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1.
Zhonghua Wei Chang Wai Ke Za Zhi ; 23(9): 872-879, 2020 Sep 25.
Artigo em Chinês | MEDLINE | ID: mdl-32927512

RESUMO

Objective: Platelet-derived growth factor alpha (PDGFRA) mutations are respectively rare in gastrointestinal stromal tumors (GIST). Most GIST with PDGFRA exon 18 mutations including D842V mutation are highly resistant to imatinib. The treatment of GIST harboring PDGFRA primary drug-resistant mutation is a major challenge. This article aims to investigate clinicopathologic features of GIST with PDGFRA-D842V mutation and the efficacy of comprehensive treatment, providing a reference for clinical practice. Methods: A retrospective cohort study was conducted to collect the clinicopathological and follow-up data of patients with GIST harboring PDGFRA mutation who were diagnosed and treated in the GIST Clinic of Renji Hospital from January 2005 to May 2020. According to the mutation site, the enrolled patients were divided into D842V mutation group and non-D842V mutation group. The differences of clinicopathologic characteristics between the two groups were compared. Furthermore, overall survival and prognostic factors were analyzed. Results: A total of 71 patients with PDGFRA-mutant GIST were included in this study, including 47 cases of D842V mutation (66.2%) and 24 cases of non-D842V mutation (33.8%). There were 28 male patients and 19 female patients in D842V mutation group, with a median age of 60 (36-82) years. There were 16 male patients and 8 female patients in non-D842V mutation group, with a median age of 62 (30-81) years. There were no significant differences in age, gender, primary location, surgical procedure, tumor size, mitotic count, expression of CD117 and DOG1, Ki-67 proliferation index and modified NIH grade between the two groups (all P>0.05). The positive rate of CD34 was 89.4% (42/47) and 62.5% (15/24) in the D842V mutation group and the non-D842V mutation group, respectively, with a statistically significant difference (χ(2)=5.644, P=0.018). Among all the cases, 66 cases underwent R0 resection without preoperative treatment; two cases underwent emergency operation with R1 resection because of tumor rupture; 2 cases were not operated after the pathological and mutation types were confirmed by biopsy (one case received avapritinib treatment and obtain partial remission). One case was diagnosed as wild-type GIST per needle biopsy in another institute, and underwent R0 resection after preoperative imatinib treatment for 6 months. After surgery, 5 high-risk GIST patients with D842V mutation and 5 high-risk GIST patients with non-D842V mutation were treated with imatinib for more than one year. The median follow-up time was 37 (1-153) months. As of the last follow-up among the patients who received R0 resection, 4 patients with D842V mutation had relapse, of whom 1 was in the period of imatinib administration, and the 3-year relapse-free survival rate was 94.2%; none of the patients with non-D842V mutation had relapse. There was no statistically significant difference in relapse-free surivval between two groups (P=0.233). Univariate analysis revealed that mitotic count (P=0.002), Ki-67 proliferation index (P<0.001) and modified NIH grade (P=0.025) were the factors associated with relapse-free survival of patients with D842V mutation after R0 resection (all P<0.05). However, the above factros were not testified as independant prognostic facors in multivariate Cox analysis (all P<0.05). Conclusion: Clinicopathologic features and the efficacy of radical resection in patients with PDGFRA-D842V mutation are similar to those in patients with non-D842V mutation.


Assuntos
Neoplasias Gastrointestinais/diagnóstico , Neoplasias Gastrointestinais/genética , Tumores do Estroma Gastrointestinal/diagnóstico , Tumores do Estroma Gastrointestinal/genética , Receptor alfa de Fator de Crescimento Derivado de Plaquetas/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Antineoplásicos/uso terapêutico , Resistencia a Medicamentos Antineoplásicos/genética , Éxons , Feminino , Neoplasias Gastrointestinais/mortalidade , Neoplasias Gastrointestinais/terapia , Tumores do Estroma Gastrointestinal/mortalidade , Tumores do Estroma Gastrointestinal/terapia , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Prognóstico , Estudos Retrospectivos
2.
Zhonghua Wei Chang Wai Ke Za Zhi ; 23(9): 880-887, 2020 Sep 25.
Artigo em Chinês | MEDLINE | ID: mdl-32927513

RESUMO

Objective: Platelet-derived growth factor α (PDGFRA)-mutant gastrointestinal stromal tumor (GIST) is a relatively rare disease, whose clinicopathological characteristics and prognosis have been poorly studied. In this paper, the clinicopathological features and prognostic factors of PDGFRA-mutant GIST are investigated to provide more data for its understanding and treatment. Methods: A retrospective case-control study was used to collect the medical records of patients with GIST who underwent surgical resection in Zhongshan Hospital of Fudan University from January 2015 to August 2019. Patients with PDGFRA-mutant GIST were enrolled, and those with synonymous PDGFRA mutations, non-tumor-related deaths, and lack of clinicopathological data were excluded. The clinicopathological data were collected and the risk factors associated with prognosis were analyzed. Results: Among the enrolled 59 patients, there were 41 males (69.5%) and 18 females (30.5%) with the median age of 60 (25-79) years. All tumors originated from the stomach. The tumor size was 5 (3-7) cm, and the mitotic count was 2 (1-4)/50 high-power fields (HPF). According to the modified NIH risk stratification, 8 cases were classified as very low risk (13.6%), 25 cases as low risk (42.4%), 14 cases as moderate risk (23.7%), and 12 cases as high risk (20.3%). There were 7 cases of exon 12 mutation and 52 cases of exon 18 mutation (including 36 cases of D842V mutation). A comparison of clinicopathological features between the D842V mutation group and the non-D842V mutation group showed no statistically significant difference (all P>0.05). During a median follow-up of 21 (0-59) months, the 1- and 3-year relapse-free survival (RFS) rates of all the patients were 96.6% and 91.5%, respectively. There were 8 cases of recurrence and 3 cases of death. Six GIST patients with D842V mutation had tumor recurrence after operation, of whom 4 cases achieved varying degrees of tumor remission after being treated with dasatinib or avapritinib. Log-rank analysis showed that the overall survival (OS) of male was better than that of female (100% vs. 83.3%, P=0.046), but there was no significant difference in OS among patients with different risk grades (P=0.057). The RFS and OS of patients with D842V mutation and non-D842V mutation, exon 12 and exon 18 mutation were similar (all P>0.05). Univariate Cox analysis showed that RFS was associated with gender (P=0.010), tumor size (P=0.042), mitotic count (P=0.003), and the modified NIH risk stratification (P=0.042), while multivariate analysis revealed that higher risk grade was an independent risk factor for recurrence of PDGFRA-mutant GIST (HR=12.796, 95%CI: 1.326-123.501, P=0.028). Gender was an independent factor for recurrence, and the risk of recurrence in males was lower than that in females (HR=0.154, 95%CI: 0.028-0.841, P=0.031). Conclusions: Gender and the modified NIH risk stratification are independent risk factors for recurrence of PDGFRA-mutant GIST, while patients with D842V and non-D842V mutation, and exon 12 and exon 18 mutation have a similar risk of recurrence and death.


Assuntos
Tumores do Estroma Gastrointestinal/genética , Recidiva Local de Neoplasia , Receptor alfa de Fator de Crescimento Derivado de Plaquetas/genética , Neoplasias Gástricas/genética , Adulto , Idoso , Estudos de Casos e Controles , Éxons , Feminino , Tumores do Estroma Gastrointestinal/diagnóstico , Tumores do Estroma Gastrointestinal/mortalidade , Tumores do Estroma Gastrointestinal/terapia , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Prognóstico , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Fatores Sexuais , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/mortalidade , Neoplasias Gástricas/terapia
3.
Int J Clin Oncol ; 25(8): 1506-1514, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32577952

RESUMO

BACKGROUND: Improved prediction of prognosis for gastrointestinal stromal tumours (GISTs) has become increasingly important since the introduction of targeted therapy. Here, we aimed to evaluate the prognostic significance of preoperative plasma fibrinogen (Fib) levels in patients with primary GISTs and to analyse their correlations with clinicopathological characteristics. METHODS: A total of 201 previously untreated patients with primary GISTs who had undergone radical surgery at our institution between October 2004 and July 2018 were enrolled. The optimal cut-off value for Fib levels was calculated using time-dependent receiver-operating characteristic curve analysis. RFS, the primary endpoint, was calculated by the Kaplan-Meier method and compared by the log-rank test. Univariate and multivariate Cox regression models were calculated. RESULTS: High preoperative plasma Fib levels were detected as an independent adverse prognostic factor (p = 0.008, hazard ratio 3.136, 95% CI 1.356‒7.256). Furthermore, high preoperative plasma Fib levels also indicated a poor prognosis within the modified National Institutes of Health (mNIH) high-risk subgroup (p = 0.041). In addition, preoperative plasma Fib levels showed a positive correlation with several prognostic factors and even a linear relationship with tumour size (Spearman correlation coefficient [r] = 0.411, p < 0.001). CONCLUSIONS: Our results suggest that high preoperative plasma Fib levels may indicate a poor prognosis in patients with primary GISTs. As a cost-effective biomarker, preoperative assessment of plasma Fib levels may help to further risk stratify patients with mNIH high-risk GISTs and instruct the application of targeted therapy.


Assuntos
Fibrinogênio/análise , Tumores do Estroma Gastrointestinal/sangue , Tumores do Estroma Gastrointestinal/mortalidade , Tumores do Estroma Gastrointestinal/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores/sangue , Feminino , Tumores do Estroma Gastrointestinal/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Período Pré-Operatório , Prognóstico , Modelos de Riscos Proporcionais , Curva ROC , Estudos Retrospectivos
4.
World J Surg Oncol ; 18(1): 70, 2020 Apr 07.
Artigo em Inglês | MEDLINE | ID: mdl-32264886

RESUMO

BACKGROUND: Preoperative imatinib mesylate therapy for gastrointestinal stromal tumors (GISTs) is controversial. This study aimed to explore the clinical efficacy and optimal duration of preoperative imatinib mesylate (IM) therapy in patients with locally advanced and recurrent/metastatic GISTs. METHODS: We retrospectively examined patients who received preoperative imatinib mesylate therapy from January 2013 to December 2018 at Xiangya Hospital, Central South University and the Second Xiangya Hospital of Central South University, China. Clinical data, including the results of tests for mutations in KIT and PDGFR, findings from regularly conducted re-examinations, abdominal-enhanced computed tomography/magnetic resonance imaging data, responses to imatinib, progression-free survival, and overall cancer-specific survival, were recorded. RESULTS: A total of 25 patients were enrolled in our study, including 18 with a locally advanced GIST and 7 with recurrent or metastatic GISTs. Their ages ranged from 22 to 70 years (M:F = 1.6:0.9), with a mean age of 50.48 ± 12.51 years. The tumor locations included the stomach (56.0%), rectum (16.0%), enterocoelic/retroperitoneal sites (12.0%), and the small intestine (12.0%). Based on testing for mutations in KIT and PDGFR, 22 patients received 400 mg/day KIT, and 3 patients received 600 mg/day PDGFR. The median duration of preoperative IM therapy was 8.96 ± 4.81 months, ranging from 3 to 26 months. According to the Choi criteria, 24 patients achieved a partial response (PR), and 1 patient had stable disease (SD). All patients underwent surgery after preoperative IM therapy, and no postoperative complications appeared. The 2-year PFS and 5-year PFS were 92% and 60%, respectively, and the total 5-year cancer-specific survival (CSS) was 92%. CONCLUSION: Preoperative imatinib therapy is feasible for locally advanced and recurrent/metastatic GISTs and can effectively shrink the tumor size, allow organ sparing, and avoid extensive organ resection. Moreover, the optimal duration of preoperative IM therapy in patients with locally advanced and recurrent/metastatic GISTs was 8.96 ± 4.81 months, ranging from 3 to 26 months, and gastric GISTs had a better response to preoperative IM therapy than did non-gastric GISTs.


Assuntos
Neoplasias Gastrointestinais/cirurgia , Tumores do Estroma Gastrointestinal/cirurgia , Recidiva Local de Neoplasia/cirurgia , Adulto , Quimioterapia Adjuvante , Feminino , Neoplasias Gastrointestinais/tratamento farmacológico , Neoplasias Gastrointestinais/mortalidade , Tumores do Estroma Gastrointestinal/tratamento farmacológico , Tumores do Estroma Gastrointestinal/mortalidade , Humanos , Mesilato de Imatinib/uso terapêutico , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/tratamento farmacológico , Recidiva Local de Neoplasia/mortalidade , Estudos Retrospectivos
5.
J BUON ; 25(1): 497-507, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32277675

RESUMO

PURPOSE: Esophageal gastrointestinal stromal tumors (GISTs) compose a very rare clinical entity, representing 0.7% of all GISTs. Therefore, the clinicopathological factors that affect mortality are currently not adequately examined. We reviewed individual cases of esophageal GISTs found in the literature in order to identify the prognostic factors affecting mortality. METHODS: MEDLINE, EMBASE, and the Cochrane Library were systematically searched to identify clinical studies and case reports referring to esophageal GISTs. The clinicopathological features were recorded and evaluated. RESULTS: A total number of 105 patients were found. The median age of patients was 58 years (mean 52.4%). The majority of patients (71.6%) presented with tumor-associated symptoms. Tumors were mostly located at the lower esophagus (72.9%), and the median tumor size was 7 cm. Esophagectomy was the most common surgical approach (54.3%), followed by tumor enucleation (45.7%). The median follow-up period was 34 months; tumor recurrence occurred in 18 cases (18.9%) and 19 died of disease (19.2%). The overall survival rate was 75.8%. We found out that tumor size and high mitotic rate (>10 mitosis per hpf) were significant prognostic factors for survival. Presence of symptoms, ulceration, and tumor necrosis as well as tumor recurrence were also significant prognostic factors (p<0.01). CONCLUSIONS: Esophageal GISTs' tumor size and mitotic rate are the most significant factors for survival. For dubious cases, a pre-operative biopsy can auspiciously establish the diagnosis of an esophageal GIST. Regarding surgical treatment, tumor enucleation can be safely and feasibly performed for relatively small, intact tumors, whereas large, aggressive tumors are resected with radical esophagectomy.


Assuntos
Neoplasias Esofágicas/mortalidade , Tumores do Estroma Gastrointestinal/mortalidade , Neoplasias Esofágicas/patologia , Feminino , Tumores do Estroma Gastrointestinal/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Análise de Sobrevida
6.
Int J Surg ; 77: 190-197, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32278104

RESUMO

BACKGROUND: Rectal gastrointestinal stromal tumor (GIST) is a rare digestive disease that originates in mesenchymal tissues and has malignant tendencies. At present, no standard treatment has been developed, and surgical approaches and the resection scope for rectal GISTs are controversial. METHODS: The clinical, surgical, pathological and prognosis data of patients with primary rectal GIST in our center from January 2008 to January 2019 were retrospectively collected. The patients were divided into the radical excision (RE) and local resection (LR) groups. RESULTS: A total of 537 GIST cases were collected, and 64 patients with primary rectal GIST were included in this study, including 25 cases in the RE group and 39 cases in the LR group. Tumor size (p = 0.013), distance from the anus (p = 0.038), National Institutes of Health (NIH) criteria (p = 0.001), preoperative adjuvant therapy (p = 0.016), postoperative adjuvant therapy (p = 0.028), blood loss (p = 0.048), operative time (p = 0.020) and the duration of hospitalization (p = 0.021) were statistically different between these 2 groups. The mean overall follow-up time was 46 months (range, 1-122 months). Disease recurrence was observed in 12 patients. No statistical differences were observed in 5-year disease-free survival (DFS) (93.3% vs 92.6%, p = 0.952) or overall survival (OS) (90.0% vs 91.6%, p = 0.832) between the RE group and the LR group. CONCLUSION: Our study showed that LR has a similar prognosis to that of RE with respect to DFS and OS. For appropriate cases, LR has the advantages of a short operative time, less bleeding, and a quick recovery. Especially when combined with neoadjuvant therapy, LR can also achieve better perioperative efficacy. Therefore, LR is an effective method for resection of rectal GISTs and warrants clinical endorsement.


Assuntos
Tumores do Estroma Gastrointestinal/cirurgia , Neoplasias Retais/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Tumores do Estroma Gastrointestinal/mortalidade , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Retais/mortalidade , Estudos Retrospectivos
7.
Br J Cancer ; 122(8): 1158-1165, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32147671

RESUMO

BACKGROUND: The majority of patients with advanced gastrointestinal stromal tumours (GISTs) develop resistance to imatinib and sunitinib, the standard of care for these patients. This study evaluated the combination of buparlisib, an oral phosphoinositide 3-kinase (PI3K) inhibitor, with imatinib in patients with advanced GIST, who have failed prior therapy with imatinib and sunitinib. METHODS: This Phase 1b, multicentre, open-label study aimed to determine the maximum tolerated dose (MTD) and/or a recommended Phase 2 dose of buparlisib in combination with 400 mg of imatinib through a dose-escalation part and a dose-expansion part, and also evaluated the clinical profile of the combination. RESULTS: Sixty patients were enrolled, including 25 in the dose-escalation part and 35 in the dose-expansion part. In the combination, MTD of buparlisib was established as 80 mg. No partial or complete responses were observed. The estimated median progression-free survival was 3.5 months in the expansion phase. Overall, 98.3% of patients had treatment-related adverse events (AEs), including 45% with grade 3 or 4 AEs. CONCLUSIONS: Buparlisib in combination with imatinib provided no additional benefit compared with currently available therapies. Due to the lack of objective responses, further development of this combination was not pursued for third-line/fourth-line advanced/metastatic GIST. TRIAL REGISTRATION NUMBER: NCT01468688.


Assuntos
Aminopiridinas/administração & dosagem , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias Gastrointestinais/tratamento farmacológico , Tumores do Estroma Gastrointestinal/tratamento farmacológico , Mesilato de Imatinib/administração & dosagem , Morfolinas/administração & dosagem , Inibidores de Fosfoinositídeo-3 Quinase/administração & dosagem , Sunitinibe/administração & dosagem , Adulto , Idoso , Aminopiridinas/efeitos adversos , Feminino , Neoplasias Gastrointestinais/mortalidade , Tumores do Estroma Gastrointestinal/mortalidade , Humanos , Mesilato de Imatinib/efeitos adversos , Masculino , Transtornos Mentais/induzido quimicamente , Pessoa de Meia-Idade , Morfolinas/efeitos adversos
8.
Int J Surg ; 77: 1-7, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32173609

RESUMO

OBJECTIVE: The optimal treatment for gastrointestinal stromal tumor (GIST) of the rectum is controversial due to the extremely low incidence of the disease. The aim of the present study was to compare the clinical outcomes of different treatment modalities for rectal GIST by reviewing the 14-year experience in our center. METHOD: Medical records of rectal GIST patients who received surgical treatment in our center between January 2004 to December 2017 were reviewed retrospectively. Overall survival (OS) and recurrence-free survival (RFS) were used as the observation endpoints. RESULTS: Included in this study were 71 GIST patients, including 42 patients who underwent local excision (LE) and 29 patients who underwent segmental resection (SR). There were differences in tumor size (P = 0.001) and malignant risk grade (P = 0.007). The LE approach achieved a lower rate of R0 resection than SR (29/42 vs.27/29, P = 0.015) and shorter hospital stay (P = 0.004). Preoperative imatinib mesylate (IM) therapy improved the rate of sphincter-sparing surgery for patients with tumors in the very low segment of the rectum (P = 0.012) and offered better R0 resection margins (P = 0.027). Multivariate analysis showed that the resection margin status (P = 0.014), risk stratification (P = 0.001) and IM therapy (P = 0.042) were independent factors affecting RFS of rectal GIST patients but not the surgical modalities (LE vs. SR, P = 0.802). Multivariate analysis showed no significant impact of these variables on OS. CONCLUSION: Selection of surgical modalities has no significant impact on the prognosis. Local excision is the preferred surgical modality for resectable rectal GIST by virtue of less injury and shorter hospital stay. IM therapy has proved to be associated with improved RFS for rectal GIST patients.


Assuntos
Tumores do Estroma Gastrointestinal/cirurgia , Neoplasias Retais/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Tumores do Estroma Gastrointestinal/tratamento farmacológico , Tumores do Estroma Gastrointestinal/mortalidade , Humanos , Mesilato de Imatinib/uso terapêutico , Masculino , Pessoa de Meia-Idade , Neoplasias Retais/tratamento farmacológico , Neoplasias Retais/mortalidade , Estudos Retrospectivos
9.
Medicine (Baltimore) ; 99(9): e19275, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32118738

RESUMO

The advent of imatinib mesylate (IM) has dramatically revolutionized the prognosis of advanced and metastatic/recurrent gastrointestinal stromal tumors (GISTs). The objective of this retrospective study is to investigate the safety and efficacy of combination of surgery following IM treatment in the management of advanced and metastatic/recurrent GISTs. We further explore the long-term clinical outcomes in these who underwent therapy of preoperative IM.Eligible patients with GISTs before the onset of the IM therapy and were periodically followed up in the outpatient clinic were included in this study. Detailed clinical and pathologic characteristics were obtained from the medical records of our institution. Univariate and multivariate regression analyses were performed to use for the evaluation of potential prognostic factors.A total of 51 patients were included in the study, of these patients, 36 patients underwent surgery and median duration of preoperative IM is 8.2months (range 3.5-85 months). Significant median tumor shrinkage rate was 29.27% (95% confidence interval 21.00%-34.00%) observed in these patients who responded to IM, and partial response and stable disease were achieved in 24 patients (47.06%) and 23 patients (45.10%), respectively, in light of the RECIST guideline (version 1.1). After the median follow-up of 43.70 months (range 14.2-131.1 months), 1- and 3-year overall survival (OS) were estimated to be 96.1% and 94.0%, respectively, and there was a significant improvement in OS for patients who received surgical intervention versus those who did not.Our study consolidates that patients were received preoperative IM therapy could shrink the size of tumors and facilitate organ-function preservation. The long-term analysis on this study supports that surgical intervention following IM therapy benefits for patients with primary advanced and recurrent or metastatic GISTs on long-term prognosis.


Assuntos
Antineoplásicos/uso terapêutico , Neoplasias Gastrointestinais/terapia , Tumores do Estroma Gastrointestinal/terapia , Mesilato de Imatinib/uso terapêutico , Recidiva Local de Neoplasia/terapia , Adulto , Idoso , Idoso de 80 Anos ou mais , Antineoplásicos/administração & dosagem , China , Feminino , Neoplasias Gastrointestinais/diagnóstico por imagem , Neoplasias Gastrointestinais/mortalidade , Neoplasias Gastrointestinais/patologia , Tumores do Estroma Gastrointestinal/diagnóstico por imagem , Tumores do Estroma Gastrointestinal/mortalidade , Tumores do Estroma Gastrointestinal/patologia , Humanos , Mesilato de Imatinib/administração & dosagem , Masculino , Registros Médicos , Pessoa de Meia-Idade , Terapia Neoadjuvante , Metástase Neoplásica , Recidiva Local de Neoplasia/diagnóstico por imagem , Recidiva Local de Neoplasia/mortalidade , Recidiva Local de Neoplasia/patologia , Estudos Retrospectivos , Análise de Sobrevida , Resultado do Tratamento
10.
Asian J Surg ; 43(1): 1-8, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30853211

RESUMO

The purpose of this study is to assess the clinical outcomes and prognostic factors for survival of patients with duodenal gastrointestinal stromal tumors (GIST) who underwent pancreaticoduodenectomy (PD) or local resection (LR). PubMed database was searched for relevant studies. A meta-analysis was performed with Review Manager 5.3 software. Twenty-seven observational studies involving 1103 patients were included in the review. The overall morbidity and 30-day mortality was 27% and 0.5% respectively. The median (range) 5-year overall survival (OS) and disease-free survival (DFS) rates were 87% (60-100%) and 71% (44-100%) respectively. In meta-analyses, factors associated with shorter DFS included male sex, mitotic index >5/50 high-power fields, high risk, tumor size >5 cm, and the PD procedure. Factors associated with shorter OS included mitotic index >5/50 high-power fields and tumor size >5 cm. Patients in PD group had a higher incidence of mitotic index >5/50 HPF, a higher incidence of high-risk classification, a higher incidence of tumors in the second portion of the duodenum, a larger tumor size, a longer duration of operation, more intraoperative blood loss, a greater blood transfusion requirement, a higher morbidity rate, a longer hospital stay, and an increased recurrence rate than those in LR group. In conclusion, the current literature review demonstrates that the postoperative prognosis of duodenal GIST is promising and mainly affected by tumor factors. The choice of the surgical approach should depend on the anatomical location and tumor size.


Assuntos
Procedimentos Cirúrgicos do Sistema Digestório/métodos , Neoplasias Gastrointestinais/cirurgia , Tumores do Estroma Gastrointestinal/cirurgia , Pancreaticoduodenectomia/métodos , Neoplasias Gastrointestinais/mortalidade , Neoplasias Gastrointestinais/patologia , Tumores do Estroma Gastrointestinal/mortalidade , Tumores do Estroma Gastrointestinal/patologia , Humanos , Prognóstico , Resultado do Tratamento
11.
Gastric Cancer ; 23(1): 118-125, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31041650

RESUMO

BACKGROUND: A multidisciplinary approach based on guidelines and pathological diagnosis by specialized pathologists are important for improving the prognosis and QoL of GIST patients. This study examined the adherence to the guidelines and the concordance of the pathological diagnosis of high-risk GISTs. PATIENTS AND METHODS: Among 541 patients with high-risk GISTs recruited to the prospective registry between Dec. 2012 and Dec. 2015, 534 patients were analyzed after central pathology with KIT and DOG1 IHC and genotyping of KIT and PDGFRA. RESULTS: Of the 534 patients, 432 (81%) received imatinib adjuvant therapy at a starting dose of 400 or 300 mg/day. Multivariate analysis indicated that age (HR 0.71; 95% CI 0.58-0.88), tumor size (HR for > 10 cm vs < 5 cm, 3.87; 95% CI 1.72-8.74), mitosis (HR for > 10 vs < 5, 3.54; 95% CI 1.84-6.79), tumor rupture (HR 3.69; 95% CI 1.43-9.52) and performance status (HR 0.55; 95% CI 0.31-0.99) were independently related to adjuvant therapy. Among the 534 high-risk GISTs diagnosed locally, 19 tumors (3.6%) were diagnosed as non-GISTs, and the other 93 (18.1%) GISTs were reclassified into lower risk categories by central pathology. Among 10 patients with non-GISTs and 8 patients with PDGFRA D842V mutations, 4 (40%) and 3 (38%) patients, respectively, continued the therapy after receiving the central pathology results. CONCLUSIONS: The adherence to guidelines and the concordance of pathological diagnoses were comparatively good for high-risk GISTs. Central pathology may contribute to improved diagnosis, but further refinements may be required.


Assuntos
Tumores do Estroma Gastrointestinal/tratamento farmacológico , Tumores do Estroma Gastrointestinal/patologia , Idoso , Anoctamina-1/metabolismo , Antineoplásicos/efeitos adversos , Antineoplásicos/uso terapêutico , Quimioterapia Adjuvante , Feminino , Tumores do Estroma Gastrointestinal/mortalidade , Fidelidade a Diretrizes , Humanos , Mesilato de Imatinib/efeitos adversos , Mesilato de Imatinib/uso terapêutico , Masculino , Pessoa de Meia-Idade , Proteínas de Neoplasias/metabolismo , Estudos Prospectivos , Proteínas Proto-Oncogênicas c-kit/genética , Proteínas Proto-Oncogênicas c-kit/metabolismo , Receptor alfa de Fator de Crescimento Derivado de Plaquetas/genética , Sistema de Registros
12.
Eur J Surg Oncol ; 46(1): 180-188, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31431322

RESUMO

BACKGROUND: Gastrointestinal stromal tumors (GIST) are the most frequent mesenchymal neoplasms of the gastrointestinal tract with highly variable potential for relapse. Tumor size and mitotic index (MI) are major risk factors that predict the outcome of GIST patients. Recent risk stratification schemes include some or all of the empirical size thresholds of 2 cm, 5 cm, and 10 cm and MI thresholds of 5 per 50 high-power fields (hpf) and 10 per 50 hpf. However, data that verify these numbers are sparse. METHODS: By exhaustive regression tree analysis, maximally selected rank statistics and survival difference analysis with bootstrap sampling on a naive GIST population of 161 patients with a mean follow-up of 44 months, current stratification schemes using tumor size and MI were analyzed herein. RESULTS: /Conclusions: Thresholds that optimally stratify the risk of recurrence are observed at tumor sizes of 4-5 cm and 10-11 cm and at mitotic indices of about 5 per 50 hpf and 10 per 50 hpf, respectively. While these data validate the canonical thresholds for size and MI used in risk stratification of GIST, transition regions as well as differences in the implementation of these thresholds between the different classification schemes proposed in the recent years should be considered when classifying GIST.


Assuntos
Tumores do Estroma Gastrointestinal/patologia , Tumores do Estroma Gastrointestinal/cirurgia , Recidiva Local de Neoplasia/patologia , Medição de Risco/métodos , Feminino , Tumores do Estroma Gastrointestinal/mortalidade , Humanos , Masculino , Índice Mitótico , Prognóstico , Fatores de Risco , Análise de Sobrevida , Carga Tumoral
13.
Am J Surg ; 219(3): 436-439, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31679654

RESUMO

BACKGROUND: The value of adjuvant systemic therapy after margin-negative resection for gastric gastrointestinal stromal tumors (GISTs) remains unclear. METHODS: The National Cancer Data Base was queried to identify patients undergoing margin negative resections for gastric GISTs >2 cm between 2010 and 2015. Patients were stratified by tumor size (small: 2.1-5 cm, intermediate: 5.1-10 cm, large: >10 cm), histologic grade (low: ≤5 mitoses/50 HPF and high: >5 mitoses/50 HPF), and use of adjuvant therapy. Multivariable cox proportional hazard methods were used to compare overall survival (OS). RESULTS: 3520 patients met inclusion criteria. Adjuvant therapy was associated with a statistical improvement in OS (86% vs. 76%, p = 0.014) for those with large tumors but had no measurable effect in patients with small or intermediate sized tumors. On multivariable analysis, this association was independent of grade. CONCLUSIONS: Adjuvant therapy is associated with improved OS for patients with gastric GISTs >10 cm but provides no statistically significant benefit in OS for those with GISTs 2-10 cm.


Assuntos
Quimioterapia Adjuvante , Tumores do Estroma Gastrointestinal/tratamento farmacológico , Tumores do Estroma Gastrointestinal/cirurgia , Idoso , Idoso de 80 Anos ou mais , Terapia Combinada , Feminino , Tumores do Estroma Gastrointestinal/mortalidade , Humanos , Masculino , Margens de Excisão , Pessoa de Meia-Idade , Gradação de Tumores , Análise de Sobrevida , Carga Tumoral
14.
J Surg Res ; 246: 584-590, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31653414

RESUMO

BACKGROUND: Primary gastrointestinal stromal tumor (GIST)-mimicking gynecologic masses are easily misdiagnosed. This study aimed to investigate the clinicopathological features, management, and prognosis of primary GIST mimicking as gynecologic mass. METHODS: Clinicopathological and survival data of GIST mimicking as gynecologic mass admitted to our center from January 2005 to December 2017 were retrospectively analyzed. RESULTS: Thirty-eight patients were included. The most common primary tumor site was the jejunoileum (n = 33, 86.9%), and 33 patients (86.9%) were classified as high recurrence risk. The short-term outcomes of operative incision length (P = 0.004), time to gas passage (P = 0.002), and hospital stay (P = 0.012) with laparoscopy-assisted resection were significantly shorter than those with open resection, showing no significant differences of long-term outcomes. With a median follow-up of 56 mo for 31 patients (81.6%), 18 (58.1%) received adjuvant therapy with imatinib. The 5-year disease-free survival and disease-specific survival of pelvic high-risk GIST was 37.0% and 48.3%, respectively; both were significantly lower than those of the other female high-risk group (both P < 0.05). CONCLUSIONS: GIST mimicking as gynecologic mass is not uncommon, most originate from the jejunoileum and have a high risk of recurrence. Laparoscopy-assisted resection may be preferable for more favorable short-term outcomes. Compared with the other female high-risk GIST, pelvic high-risk GIST has a significantly worse prognosis; a longer duration of adjuvant therapy with imatinib than recommended may be beneficial.


Assuntos
Antineoplásicos/uso terapêutico , Tumores do Estroma Gastrointestinal/diagnóstico , Mesilato de Imatinib/uso terapêutico , Laparoscopia , Recidiva Local de Neoplasia/epidemiologia , Adulto , Idoso , Quimioterapia Adjuvante/métodos , Diagnóstico Diferencial , Intervalo Livre de Doença , Feminino , Tumores do Estroma Gastrointestinal/mortalidade , Tumores do Estroma Gastrointestinal/cirurgia , Tumores do Estroma Gastrointestinal/terapia , Neoplasias dos Genitais Femininos/diagnóstico , Humanos , Íleo/patologia , Íleo/cirurgia , Jejuno/patologia , Tempo de Internação/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Fatores de Risco
15.
World J Surg Oncol ; 17(1): 156, 2019 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-31484583

RESUMO

BACKGROUND: Liver resection is a treatment of choice for colorectal and neuroendocrine liver metastases, and laparoscopy is an accepted approach for surgical treatment of these patients. The role of liver resection for patients with non-colorectal non-neuroendocrine liver metastases (NCNNLM), however, is still disputable. Outcomes of laparoscopic liver resection for this group of patients have not been analyzed. MATERIAL AND METHODS: In this retrospective study, patients who underwent laparoscopic liver resection for NCNNLM at Oslo University Hospital between April 2000 and January 2018 were analyzed. Perioperative and oncologic data of these patients were examined. Postoperative morbidity was classified using the Accordion classification. Kaplan-Meier method was used for survival analysis. Median follow-up was 26 (IQR, 12-41) months. RESULTS: Fifty-one patients were identified from a prospectively collected database. The histology of primary tumors was classified as adenocarcinoma (n = 16), sarcoma (n = 4), squamous cell carcinoma (n = 4), melanoma (n = 16), gastrointestinal stromal tumor (n = 9), and adrenocortical carcinoma (n = 2). The median operative time was 147 (IQR, 95-225) min, while the median blood loss was 200 (IQR, 50-500) ml. Nine (18%) patients experienced postoperative complications. There was no 90-day mortality in this study. Thirty-five (68%) patients developed disease recurrence or progression. Seven (14%) patients underwent repeat surgical procedure for recurrent liver metastases. One-, three-, and five-year overall survival rates were 85%, 52%, and 38%, respectively. The median overall survival was 37 (95%CI, 25 to 49) months. CONCLUSION: Laparoscopic liver resection for NCNNLM results in good outcomes and should be considered in patients selected for surgical treatment.


Assuntos
Adenocarcinoma/mortalidade , Carcinoma Adrenocortical/mortalidade , Tumores do Estroma Gastrointestinal/mortalidade , Hepatectomia/mortalidade , Laparoscopia/mortalidade , Neoplasias Hepáticas/mortalidade , Melanoma/mortalidade , Adenocarcinoma/patologia , Adenocarcinoma/cirurgia , Neoplasias do Córtex Suprarrenal/mortalidade , Neoplasias do Córtex Suprarrenal/patologia , Neoplasias do Córtex Suprarrenal/cirurgia , Carcinoma Adrenocortical/patologia , Carcinoma Adrenocortical/cirurgia , Idoso , Carcinoma de Células Escamosas/mortalidade , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/cirurgia , Feminino , Seguimentos , Neoplasias Gastrointestinais/mortalidade , Neoplasias Gastrointestinais/patologia , Neoplasias Gastrointestinais/cirurgia , Tumores do Estroma Gastrointestinal/patologia , Tumores do Estroma Gastrointestinal/cirurgia , Humanos , Neoplasias Hepáticas/secundário , Neoplasias Hepáticas/cirurgia , Masculino , Melanoma/patologia , Melanoma/cirurgia , Pessoa de Meia-Idade , Assistência Perioperatória , Prognóstico , Estudos Prospectivos , Estudos Retrospectivos , Sarcoma/mortalidade , Sarcoma/patologia , Sarcoma/cirurgia , Taxa de Sobrevida
16.
Eur J Cancer ; 121: 29-39, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31536852

RESUMO

AIM: We evaluated the efficacy and safety of TAS-116, a novel class of an orally active selective inhibitor of heat shock protein 90, in patients with advanced gastrointestinal stromal tumour (GIST) after failure of three or more lines of standard treatment with imatinib, sunitinib and regorafenib. METHODS: In this single-arm phase II study, patients received 160 mg/day oral TAS-116 for five consecutive days, followed by a 2-day rest. The primary end-point was centrally assessed progression-free survival (PFS). The secondary end-points were objective response rate, disease control rate, overall survival (OS), metabolic response rate, safety, pharmacokinetics and pharmacogenomics. RESULTS: Forty-one patients were enrolled in Japan, and 40 patients underwent efficacy and safety evaluation. At the cut-off date, the median PFS was 4.4 months (95% confidence interval [CI], 2.8-6.0) and 12-week progression-free rate was 73.4% (95% CI, 58.1-88.7). Thirty-four patients (85.0%) had stable disease for ≥ 6 weeks. The median OS was 11.5 months (95% CI, 7.0-not reached). All patients experienced at least one treatment-related adverse event (AE), including diarrhoea (80.0%), decreased appetite (45.0%) and increase in blood creatinine level (42.5%). Grade ≥3 AEs and treatment-related grade ≥3 AEs occurred in 23 (57.5%) and 21 (52.5%) patients, respectively. All AEs resolved after dose modification, and no TAS-116-related AEs led to treatment discontinuation. CONCLUSION: TAS-116 showed significant activity in advanced GIST refractory to standard treatment. Further development of TAS-116 is warranted. TRIAL REGISTRATION: JapicCTI-163182.


Assuntos
Benzamidas/administração & dosagem , Benzamidas/efeitos adversos , Resistencia a Medicamentos Antineoplásicos/efeitos dos fármacos , Neoplasias Gastrointestinais/tratamento farmacológico , Tumores do Estroma Gastrointestinal/tratamento farmacológico , Pirazóis/administração & dosagem , Pirazóis/efeitos adversos , Administração Oral , Idoso , Benzamidas/farmacocinética , Feminino , Neoplasias Gastrointestinais/metabolismo , Neoplasias Gastrointestinais/mortalidade , Neoplasias Gastrointestinais/patologia , Tumores do Estroma Gastrointestinal/metabolismo , Tumores do Estroma Gastrointestinal/mortalidade , Tumores do Estroma Gastrointestinal/patologia , Proteínas de Choque Térmico HSP90/antagonistas & inibidores , Humanos , Mesilato de Imatinib/uso terapêutico , Japão , Masculino , Pessoa de Meia-Idade , Metástase Neoplásica , Compostos de Fenilureia/uso terapêutico , Pirazóis/farmacocinética , Piridinas/uso terapêutico , Sunitinibe/uso terapêutico , Resultado do Tratamento
17.
Libyan J Med ; 14(1): 1659669, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31474194

RESUMO

S100A4 is particularly associated with the progression and metastasis of numerous human malignancies. This study was designed to examine the clinicopathologic significance of S100A4 in gastrointestinal stromal tumor (GISTs). The level of OPNS100A4 expression in a large cohort of resectable GISTs was evaluated with immunohistochemistry. Its correlation with the clinicopathologic parameters of patients with resectable GISTs was analyzed. A survival analysis was performed to evaluate the prognostic significance of S100A4 expression using Kaplan-Meier method. Results: In 108 patients with resectable GISTs, the most high-risk GISTs had a strong level of S100A4 expression. Strong S100A4 expression was significantly associated with tumor size, mitosis, and recurrence, but not gender and age. Patients with weak S100A4 expression had a relatively longer disease-free survival compared to patients with strong S100A4 expression.Therefore, S100A4 expression is a putative marker for tumor progression and an adverse prognosis in GISTs.


Assuntos
Biomarcadores Tumorais/metabolismo , Tumores do Estroma Gastrointestinal/metabolismo , Tumores do Estroma Gastrointestinal/cirurgia , Proteína A4 de Ligação a Cálcio da Família S100/metabolismo , Idoso , China/epidemiologia , Progressão da Doença , Intervalo Livre de Doença , Feminino , Neoplasias Gastrointestinais/diagnóstico por imagem , Neoplasias Gastrointestinais/patologia , Tumores do Estroma Gastrointestinal/mortalidade , Tumores do Estroma Gastrointestinal/patologia , Expressão Gênica/imunologia , Humanos , Imuno-Histoquímica/métodos , Masculino , Pessoa de Meia-Idade , Prognóstico , Análise de Sobrevida , Tomografia Computadorizada por Raios X/métodos
18.
Zhonghua Wei Chang Wai Ke Za Zhi ; 22(9): 856-860, 2019 Sep 25.
Artigo em Chinês | MEDLINE | ID: mdl-31550825

RESUMO

Objective: To investigate the differences of clinicopathological features, diagnosis, treatment and prognosis between patients with extra-gastrointestinal stromal tumors (EGIST) and duodenal gastrointestinal stromal tumors (DGIST). Methods: A retrospective case - control study was performed. Case inclusion criteria: (1) tumor confirmed by histology and pathology; (2) primary tumor locating in the extra - gastrointestinal tract or duodenum; (3) without other synchronous tumors; (4) complete clinical and pathological data. Clinical data of 20 EGIST patients and 32 DGIST patients from March 2011 to September 2016 at Department of Gastrointestinal Surgery, Ruijin Hospital, Shanghai Jiaotong University School of Medicine were retrospectively collected and analyzed. The observational parameters included clinicopathological characteristics, treatment and prognosis conditions. Continuous data of abnormal distribution were expressed as median (range) and compared using the Mann-Whitney U-test. Survival curves were drawn by the Kaplan-Meier method and compared with the Log-rank test. Results: Of the 20 EGIST patients, 8 were males and 12 were females with age of 61.0 (30.0 to 86.0) years and of the 32 DGIST patients, 12 were males and 20 were females with age of 55.5 (27.0 to 70.0) years. Compared with DGIST patients, EGIST patients were older (U=188.000, P=0.012], had larger tumor size [10.0 (3.0 to 29.0) cm vs. 4.0 (1.5 to 10.0) cm, U=98.500, P<0.001] and higher ratio of high risk classification [85.0% (17/20) vs. 12.5% (4/32), χ(2)=26.870, P<0.001]. Among the 20 EGIST patients, 5 were diagnosed with distal metastasis and received imatinib (400 mg/d), and the other 15 patients underwent radical resection who were included in survival analysis. All the 32 DGIST patients underwent radical resection. The median follow-up of whole group was 43 (14 to 76) months. The 3-year recurrence/metastasis-free survival rate of 15 cases undergoing radical resection in the EGIST group was 85.6%, which was lower than that of the DGIST group (88.6%), and the difference was not statistically significant (P=0.745). There was no significant difference in the 3-year overall survival rate between the EGIST group (92.9%) and the DGIST group (100%) (P=0.271). Conclusions: As compared to DGIST, EGIST mostly occurs in those with older age, larger tumor size and higher risk grade. The prognosis of EGIST patients after radical resection is similar to that of DGIST patients.


Assuntos
Tumores do Estroma Gastrointestinal , Neoplasias de Tecido Conjuntivo , Adulto , Idoso , Idoso de 80 Anos ou mais , China , Neoplasias Duodenais/diagnóstico , Neoplasias Duodenais/mortalidade , Neoplasias Duodenais/patologia , Duodeno/patologia , Feminino , Tumores do Estroma Gastrointestinal/diagnóstico , Tumores do Estroma Gastrointestinal/mortalidade , Tumores do Estroma Gastrointestinal/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias de Tecido Conjuntivo/diagnóstico , Neoplasias de Tecido Conjuntivo/patologia , Prognóstico , Estudos Retrospectivos , Estatísticas não Paramétricas
19.
Zhonghua Wai Ke Za Zhi ; 57(8): 585-590, 2019 Aug 01.
Artigo em Chinês | MEDLINE | ID: mdl-31422627

RESUMO

Objective: To investigate the efficacy and feasibility of laparoscopic resection for gastric gastrointestinal stromal tumor (GIST) in unfavorable location by comparing with open surgery. Methods: Clinicopathological and follow-up data of 176 patients with gastric GIST in unfavorable location admitted at Union Hospital, Tongji Medical College, Huazhong University of Science and Technology from January 2005 to December 2017 were analyzed retrospectively. There were 94 males and 82 females, aging of (57.4±12.7) years (range: 20-90 years). Of the 176 patients, 64 underwent laparoscopic surgery (laparoscopic group) and 112 underwent open surgery (open group). One-to-one propensity score matching (PSM) was performed to balance the covariance between laparoscopic group and open surgery group. Before PSM, the differences between the two group in tumor size and modified National Institutes of Health risk classification were significant. After PSM, there were 63 pairs (63 cases in laparoscopic group and 63 cases in open group) and the baseline characteristics were comparable between the two groups(P>0.05). The difference of short-term outcome between the two groups were compared using t test, χ(2) test or Wilcoxon rank-sum test. The survival curve was established by Kaplan-Meier method and the Log-rank test was used to compare the survival of the two groups. Results: The operation time of laparoscopic group was shorter ((141.6±100.6) minutes vs. (100.4±67.7) minutes, t=2.681, P=0.008), the hospitalization cost was higher ((5.2±0.7) ten thousand yuan vs. (4.2±0.8) ten thousand yuan, t=7.357, P=0.000) than open group. The time to first flatus ((49.1±8.2) hours vs. (71.0±4.6) hours, t=-18.482, P=0.000) and preoperative hospital stay ((10.3±6.0) days vs. (14.8±7.6) days, t=-3.717, P=0.000) was shorter in laparoscopic group. With a median follow-up time of 44 months (range: 10 to 154 months), the 1-, 3-, 5-year relapse-free survival rates in the laparoscopic group and open group were 98.3%, 92.1%, 92.1% and 100%, 86.3%, 83.2%, respectively (χ(2)=0.696, P=0.404). The 1-, 3-, 5-year overall survival rates in the laparoscopic group and open group were 96.6%, 94.7%, 94.7% and 100%, 91.1%, 81.4%, respectively (χ(2)=0.366, P=0.545). Conclusions: In experienced medical centers, laparoscopic resection is safe and feasible for GIST in unfavorable location. Compared to open surgery, laparoscopic resection achieves a faster postoperative recovery and a similar long-term prognosis.


Assuntos
Gastrectomia/métodos , Tumores do Estroma Gastrointestinal/cirurgia , Neoplasias Gástricas/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Convalescença , Estudos de Viabilidade , Feminino , Seguimentos , Gastrectomia/mortalidade , Tumores do Estroma Gastrointestinal/mortalidade , Humanos , Laparoscopia , Masculino , Pessoa de Meia-Idade , Pontuação de Propensão , Estudos Retrospectivos , Medição de Risco , Neoplasias Gástricas/mortalidade , Análise de Sobrevida , Resultado do Tratamento , Adulto Jovem
20.
Mol Genet Genomic Med ; 7(9): e927, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31397088

RESUMO

BACKGROUND: Type 1 neurofibromatosis (NF1) is a genetic tumor predisposing Rasopathy. NF1 patients have an increased risk for developing benign and malignant tumors, but the occurrence of intestinal tumors has not been investigated at the population level. METHODS: In this retrospective register-based total population study, diagnoses of gastrointestinal tract tumors were retrieved from the Finnish Care Register for Health Care for 1,410 NF1 patients and 14,030 reference persons. We also reviewed the death certificates of 232 NF1 patients who died during years 1987-2013, and specifically searched for diagnosis of gastrointestinal stromal tumor (GIST). RESULTS: The register analysis revealed an increased overall hazard ratio (HR) of 2.6 (95% CI 1.9-3.6) for intestinal tumors in NF1 compared to general population. The highest HR of 15.6 (95% CI 6.9-35.1) was observed in the small intestine. The focused analysis of NF1 death certificates and GISTs demonstrated that the GIST was the primary cause of death in seven patients. CONCLUSION: This study emphasizes the need for careful evaluation of NF1 patients with gastrointestinal complaints. The challenge in diagnosis is that the tumors preferably occur at the small intestine, which is difficult target for diagnostic procedures. We also show that the NF1 GISTs may lead to fatal outcome despite of benign histopathological findings at the time of the diagnosis.


Assuntos
Neoplasias Gastrointestinais/mortalidade , Tumores do Estroma Gastrointestinal/mortalidade , Neurofibromatose 1/mortalidade , Sistema de Registros , Adulto , Idoso , Feminino , Neoplasias Gastrointestinais/genética , Neoplasias Gastrointestinais/patologia , Tumores do Estroma Gastrointestinal/genética , Tumores do Estroma Gastrointestinal/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Neurofibromatose 1/genética , Neurofibromatose 1/patologia , Estudos Retrospectivos
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