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1.
Gan To Kagaku Ryoho ; 48(2): 257-259, 2021 Feb.
Artigo em Japonês | MEDLINE | ID: mdl-33597374

RESUMO

The patient was a 77-year-old woman. She underwent a partial gastrectomy at the age of 40, and a partial colectomy at the age of 75 following a diagnosis of a carcinoid. In November 2019, a 1.5 cm mass with a clear boundary was found in the pancreatic tail, which was strongly stained uniformly. And furthermore, multiple masses between 2 cm and 3 cm with a clear boundary was found inside liver segment S1 and S6 and S7 and S8 on CT, which was strongly stained at the edge in the early phase and was seen as a low density area in the late phase. At a result of image examination, it was diagnosed as a pancreatic tail neuroendocrine tumor and its multiple liver metastases. The distal pancreatectomy, posterior segmentectomy, and partial S1 lt and S8 liver resection were performed. With postoperative pathological diagnosis, the pancreatic tumor was accessory spleen, and liver tumor were epithelioid type GIST which were positive for CD34 and PDGFRA and negative for c- kit. The pathology specimen of colectomy was re-examined, and the diagnosis from the previous surgery was changed to GIST from a carcinoid. Epithelioid type GIST was associated with a PDGFRA gene mutation and was known to have many gastric origins. Based on the clinical course, it was diagnosed as recurrence of gastric GIST at 40 years after 30 years or more.


Assuntos
Tumores do Estroma Gastrointestinal , Neoplasias Gástricas , Idoso , Feminino , Gastrectomia , Tumores do Estroma Gastrointestinal/cirurgia , Humanos , Recidiva Local de Neoplasia , Proteínas Proto-Oncogênicas c-kit , Neoplasias Gástricas/cirurgia
2.
Gan To Kagaku Ryoho ; 48(2): 269-272, 2021 Feb.
Artigo em Japonês | MEDLINE | ID: mdl-33597378

RESUMO

A 67-year-old woman was admitted with melena. A colonoscopy detected a 50 mm submucosal tumor close to the dentate line. We diagnosed the rectal gastrointestinal stromal tumor by EUS-FNA. With the expectation of tumor shrinkage and strong hope of the patient, we started imatinib mesylate as neoadjuvant chemotherapy. A CT scan after 3 months after administration of imatinib mesylate showed the reduction of the size to 35 mm. We operated transanal endoscopic surgery considering the localization of the tumor. From histopathological findings, the tumor was low risk in the modified-Fletcher classification, and low risk in the Miettinen classification. Eight months after the operation, no recurrence was observed without further adjuvant chemotherapy. In this case, we were able to resect the tumor without injuring the film of tumor by operating transanal endoscopic surgery, because of tumor shrinkage with imatinib mesylate as neoadjuvant chemotherapy. I considered that using imatinib mesylate preoperatively was contributed to minimally invasive surgery.


Assuntos
Antineoplásicos , Tumores do Estroma Gastrointestinal , Neoplasias Retais , Idoso , Antineoplásicos/uso terapêutico , Feminino , Tumores do Estroma Gastrointestinal/tratamento farmacológico , Tumores do Estroma Gastrointestinal/cirurgia , Humanos , Mesilato de Imatinib/uso terapêutico , Procedimentos Cirúrgicos Minimamente Invasivos , Terapia Neoadjuvante , Recidiva Local de Neoplasia , Neoplasias Retais/tratamento farmacológico , Neoplasias Retais/cirurgia , Reto
3.
Gan To Kagaku Ryoho ; 48(1): 101-103, 2021 Jan.
Artigo em Japonês | MEDLINE | ID: mdl-33468734

RESUMO

A 71-year-old man underwent total gastrectomy with Roux-en-Y reconstruction for gastric GIST in October 2017. Liver metastasis was identified in June 2019, and chemotherapy with imatinib was started in July. In December, the patient presented with acute upper abdominal pain and back pain. Abdominal contrast-enhanced CT showed that the jejunum extending from the duodenal stump was dilated. In addition, part of the jejunum had a poor wall contrast effect, with ascites also found surrounding it. We suspected a strangulated ileus and immediately performed emergency surgery. We found an internal hernia with incarceration of the afferent loop at the Petersen's defect. The time from the onset of symptoms to the surgery was relatively short, and the surgery was completed with hernial repair and closure of the hernial orifice without the development of bowel necrosis; the patient's postoperative course was good. Although the frequency of internal hernia after gastrectomy is relatively low, there is a risk that it may be severe if it occurs. Therefore, care should be taken to not cause internal hernias during surgery, and an internal hernia should be considered in the event of sudden abdominal pain after gastric surgery.


Assuntos
Derivação Gástrica , Tumores do Estroma Gastrointestinal , Hérnia Abdominal , Laparoscopia , Neoplasias Hepáticas , Idoso , Gastrectomia , Tumores do Estroma Gastrointestinal/tratamento farmacológico , Tumores do Estroma Gastrointestinal/cirurgia , Hérnia Abdominal/cirurgia , Humanos , Neoplasias Hepáticas/tratamento farmacológico , Neoplasias Hepáticas/cirurgia , Masculino
4.
Anticancer Res ; 41(1): 21-25, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33419796

RESUMO

BACKGROUND/AIM: Gastrointestinal stromal tumor (GIST) has a wide spectrum of clinical manifestations. Involvement of the groin region can cause interesting presentations but, as of 2020, has rarely been investigated. Our aim was to assess the clinicopathological and prognostic features of GIST appearing in this specific part of the body. MATERIALS AND METHODS: We investigated the world literature dealing with primary or metastatic GIST appearing in the inguinal region (IGIST). A case of metastatic IGIST from our clinical records was also included. RESULTS: We found only six cases of primary and nine of metastatic IGIST. All were of male gender, and most aged 60 years or more (10 cases). Inguinal hernia (11 cases) was the patient type most frequently affected. The association between metastatic IGIST and inguinal lymphadenopathy was statistically significant (p=0.049). CONCLUSION: IGIST is a rare entity with particular clinical manifestations. Inguinal hernia and inguinal lymphadenopathy should be carefully investigated in patients with a history of GIST.


Assuntos
Tumores do Estroma Gastrointestinal/diagnóstico , Virilha/patologia , Gerenciamento Clínico , Tumores do Estroma Gastrointestinal/secundário , Tumores do Estroma Gastrointestinal/cirurgia , Humanos , Metástase Neoplásica , Estadiamento de Neoplasias , Avaliação de Sintomas , Resultado do Tratamento
5.
Anticancer Res ; 41(1): 131-136, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33419806

RESUMO

AIM: We aimed to develop a rapid, simple procedure and an algorithm for quantitative analysis and classification of the metastatic risk of gastrointestinal stromal tumours (GIST) for clinical use. MATERIALS AND METHODS: Eighteen specimens from laparoscopic local gastrectomy were assessed by flow cytometry. We devised a new risk classification for GIST by combining flow cytometry parameters with tumour size and evaluated whether the combined parameters correlated with the modified Fletcher risk classification. RESULTS: We found a significant correlation between clinical prognostic factors (mitotic count and Ki-67 labelling index) and the flow cytometry parameters DNA ploidy, DNA index and S-phase fraction. The combined parameters established from tumour size and the flow cytometry parameters showed a high correlation with the modified Fletcher risk classification (p=0.0064). Flow cytometry had to be performed for approximately 10 minutes to determine the metastatic risk. CONCLUSION: Rapid flow cytometry parameters can classify risk without the need for histological analysis.


Assuntos
Citometria de Fluxo , Tumores do Estroma Gastrointestinal/diagnóstico , Idoso , Biomarcadores , DNA de Neoplasias , Feminino , Citometria de Fluxo/métodos , Tumores do Estroma Gastrointestinal/etiologia , Tumores do Estroma Gastrointestinal/metabolismo , Humanos , Antígeno Ki-67 , Masculino , Pessoa de Meia-Idade , Índice Mitótico , Ploidias , Prognóstico , Reprodutibilidade dos Testes , Carga Tumoral
6.
BMJ Case Rep ; 14(1)2021 Jan 27.
Artigo em Inglês | MEDLINE | ID: mdl-33504522

RESUMO

We report the case of an 84-year-old male patient suffering from a gastrointestinal stromal tumour (GIST) of the rectum who was referred to our ENT (Ear-Nose-Throat) clinic for a rapidly progressive stridor, aphagia and dysphonia. The clinical examination revealed a mass arising from the posterior wall of the pharynx, which obstructed the laryngeal inlet and thus the airway. A metastasis of the GIST was suspected. After completing the investigation with radiological imaging, the patient underwent surgery, which consisted of a tracheostomy to secure the airway and a biopsy of the mass. The pathological examination confirmed the suspected diagnosis of a GIST vertebral metastasis.


Assuntos
Vértebras Cervicais , Tumores do Estroma Gastrointestinal/diagnóstico por imagem , Neoplasias Retais/patologia , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Idoso de 80 Anos ou mais , Biópsia , Transtornos de Deglutição/etiologia , Progressão da Doença , Tumores do Estroma Gastrointestinal/complicações , Tumores do Estroma Gastrointestinal/secundário , Humanos , Masculino , Sons Respiratórios/etiologia , Neoplasias da Coluna Vertebral/complicações , Neoplasias da Coluna Vertebral/secundário , Traqueostomia
7.
Am J Case Rep ; 22: e927761, 2021 Jan 16.
Artigo em Inglês | MEDLINE | ID: mdl-33452231

RESUMO

BACKGROUND Neurofibromatosis type 1 (NF1) is a multi-tumor syndrome in which affected patients develop malignancies that are rare in the overall population, such as tumors of neural or endocrine origin. CASE REPORT A 67-year-old woman with a clinical diagnosis of NF1 presented with abdominal pain and pneumoperitoneum. She underwent small-bowel resections for a perforated jejunal lesion and a second lesion in the ileum; pathology showed a neurofibroma at the site of the perforation and a 1-cm low-grade GIST, respectively. Additional staging with cross-sectional imaging identified a 3.7-cm pancreatic head mass and a 1.7-cm left adrenal mass; biochemical studies revealed elevated serum gastrin and urinary free metanephrines and catecholamines consistent with pheochromocytoma. Initial surgical management was a left posterior retroperitoneoscopic adrenalectomy. Postoperatively, gallium-68-DOTATOC PET/CT showed uptake in the pancreatic head and a 28-mm left thyroid nodule. Months later, she had an open pancreaticoduodenectomy. Pathology showed pheochromocytoma and a low-grade (G1) gastrinoma involving 2/8 peripancreatic lymph nodes (pT3pN1M0), respectively. Fine-needle aspiration biopsy of the thyroid nodule showed features consistent with a Hürthle cell neoplasm. Genetic testing identified a pathogenic mutation in NF1 and no mutations in BRCA1/2, CDC72, MEN1, or PALB2. The patient continues surveillance, with no evidence of recurrent disease. CONCLUSIONS We report the fifth case of gastrinoma associated with NF1 and the first to arise from the pancreas. This case of a pancreatic neuroendocrine tumor was associated with multiple additional neoplasms. Neuroendocrine tumors found in NF1 should raise suspicion of other malignancies.


Assuntos
Adenoma Oxífilo/patologia , Neoplasias das Glândulas Endócrinas/patologia , Gastrinoma/patologia , Tumores do Estroma Gastrointestinal/patologia , Neurofibromatose 1/patologia , Feocromocitoma/patologia , Adenoma Oxífilo/terapia , Idoso , Neoplasias das Glândulas Endócrinas/terapia , Feminino , Gastrinoma/terapia , Neoplasias Gastrointestinais/patologia , Neoplasias Gastrointestinais/terapia , Tumores do Estroma Gastrointestinal/terapia , Humanos , Neurofibromatose 1/complicações , Neurofibromatose 1/terapia , Feocromocitoma/terapia
8.
Zhonghua Wei Chang Wai Ke Za Zhi ; 24(2): 167-172, 2021 Feb 25.
Artigo em Chinês | MEDLINE | ID: mdl-33508923

RESUMO

Objective: To investigate the safety and feasibility of laparoscopic double-flap technique (Kamikawa) in digestive tract reconstruction after proximal gastrectomy for esophagogastric junction (EGJ) leiomyoma and gastrointestinal stromal tumor (GIST) with the maximum diameter >5 cm. Methods: A descriptive case-series study was used to retrospectively analyze the data of patients with EGJ leiomyoma and GIST undergoing laparoscopic-assisted proximal gastrectomy and double-flap technique (Kamikawa) at the Department of Gastrointestinal Surgery, Guangdong Hospital of Traditional Chinese Medicine from September 2017 to March 2019. All the tumors invaded the cardia dentate line, and the maximum diameter was >5 cm. After the exclusion of patients requiring emergency surgery and complicating with severe cardiopulmonary diseases, a total of 4 patients, including 3 males and 1 female with age of 29-49 years, were included in this study. After laparoscopic-assisted proximal gastrectomy, the residual stomach was pulled out of the abdominal cavity and marked with methylene blue at the proximal end 3~4 cm from the anterior wall of the residual stomach in the shape of "H". The gastric wall plasma muscular layer was cut along the "H" shape, and the space between the submucosa and the muscular layer was separated to both sides along the longitudinal incision line to make the seromuscular flap. The residual stomach was put back into the abdominal cavity. Under laparoscopy, 4 stitches were intermittently sutured at the upside of "H" shape and 4-5 cm from the posterior wall of the esophageal stump. The stump of the esophagus was cut open, and the submucosa and mucosa were cut under the "H" shape to enter the gastric cavity. The posterior wall of the esophageal stump was sutured continuously with the gastric stump mucosa and submucosa under laparoscopy. The anterior wall of the esophageal stump was sutured continuously with the whole layer of the residual stomach. The anterior wall of the stomach was sutured to cover the esophagus. The anterior gastric muscle flap was sutured and embedded in the esophagus to complete the reconstruction of digestive tract. The morbidity of intraoperative complications and postoperative reflux esophagitis and anastomosis-related complications were observed. Results: All the 4 patients completed the operation successfully, and there was no conversion to laparotomy. The median operative time was 239 (192-261) minutes, the median Kamikawa anastomosis time was 149 (102-163) minutes, and the median intraoperative blood loss was 35 (20-200) ml. The abdominal drainage tube and gastric tube were removed, and the fluid diet was resumed on the first day after surgery in all the 4 patients. The median postoperative hospitalization time was 6 (6-8) days. Postoperative pathology revealed 3 leiomyomas and 1 GIST. There were no postoperative complications such as anastomotic leakage or stenosis, and no reflux symptoms were observed. The median follow-up time was 22 (11-29) months after the operation, and no reflux esophagitis occurred in any of the 4 patients by gastroscopy. Conclusion: For >5 cm EGJ leiomyoma or GIST, double-flap technique (Kamikawa) used for digestive tract reconstruction after proximal gastrectomy is safe and feasible.


Assuntos
Junção Esofagogástrica , Esôfago/cirurgia , Tumores do Estroma Gastrointestinal , Leiomioma , Neoplasias Gástricas , Estômago/cirurgia , Adulto , Anastomose Cirúrgica/métodos , Junção Esofagogástrica/cirurgia , Estudos de Viabilidade , Feminino , Gastrectomia/métodos , Tumores do Estroma Gastrointestinal/cirurgia , Humanos , Laparoscopia , Leiomioma/cirurgia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Neoplasias Gástricas/cirurgia , Retalhos Cirúrgicos , Resultado do Tratamento
9.
Am J Surg ; 221(1): 183-186, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32782081

RESUMO

BACKGROUND: Transanal endoscopic microsurgery (TEM) is effective in treating adenomas and select early rectal cancers. Our objective is to evaluate TEM in treating early rectal GISTs. METHODS: Patients were identified in a prospective database with pathology confirmed rectal GIST prior to TEM over 10 years. Demographic, pathologic, operative and follow-up data was analysed and presented with descriptive statistics. RESULTS: 7 cases of rectal GIST were treated with TEM with a follow-up time of 31 months (0-71). Median tumor distance from the anal verge was 4 cm (2.5-6) and median tumor size was 3 cm (2-5.7). Negative margins were achieved in 4/7 patients. Those with positive margins were treated with repeat TEM or imatinib. 1 patient had local recurrence successfully treated by TEM. CONCLUSIONS: Overall, TEM is safe for locally excising GISTs. As rectal GISTs are rare, a multicenter registry may better elucidate outcomes with this treatment.


Assuntos
Tumores do Estroma Gastrointestinal/cirurgia , Neoplasias Retais/cirurgia , Microcirurgia Endoscópica Transanal , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
10.
Chirurgia (Bucur) ; 115(6): 726-734, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33378631

RESUMO

Introduction: Laparoscopic techniques have been increasingly adopted in the field of General Surgery in the last decades. The main disadvantages of laparoscopy are related to limited degrees of freedom of instruments and poor ergonomics, which are associated with a steep learning curve. Robotic surgery overcomes most of the technical limitations of laparoscopic surgery and has the potential to expand the indications of minimal access surgery (MAS) in procedures that are difficult to perform using laparoscopy. Methods: Patients who underwent MAS resections of gastric gastrointestinal stromal tumours (GIST) between January 2002 and October 2018 in a single Surgical Department were retrospectively analysed. Demographic data as well as the following characteristics were recorded for each patient: age, sex, symptoms, tumour location and size, type of surgical procedure, intraoperative blood loss, operative time, length of hospital stay, histopathological assessment of resection margins, and incidence of perioperative complications. Results: The mean patient age was 58 (range, 27-81 years). Most lesions were found on the great curvature (7) and in the distal stomach or antrum (7), respectively. Twenty patients underwent laparoscopic resection, while five patients had robotic resection of gastric GISTs. Surgical laparoscopic treatment consisted of antrectomy (n=4) and wedge gastrectomy (n=16). In all robotic cases a wedge gastrectomy was performed. One patient was converted to open surgery due to adhesions from previous operation. The mean operative time was 130 minutes (range, 70-210 minutes).The mean tumour size was 3.8 cm (range, 2-7 cm). There were no complications except one case that required reoperation for postoperative bleeding. There were no mortalities. Conclusion: The MAS approach of gastric GISTs is safe and effective and it is associated with low morbidity. Therefore, it should constitute the first option in patients with small tumours and favourable locations. The only limiting factor for the widespread use of MAS resections for gastric GISTs is surgeon expertise in this challenging technique.


Assuntos
Gastrectomia/métodos , Tumores do Estroma Gastrointestinal , Laparoscopia , Procedimentos Cirúrgicos Robóticos , Neoplasias Gástricas , Adulto , Idoso , Idoso de 80 Anos ou mais , Competência Clínica , Gastrectomia/normas , Tumores do Estroma Gastrointestinal/cirurgia , Humanos , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Minimamente Invasivos , Estudos Retrospectivos , Neoplasias Gástricas/cirurgia , Resultado do Tratamento
11.
BMJ Case Rep ; 13(12)2020 Dec 13.
Artigo em Inglês | MEDLINE | ID: mdl-33318243

RESUMO

Imatinib is used to treat several haematological and solid malignancies. Cutaneous side effects could often limit the use of this medication. We present a case of a 62-year-old woman with a history of a gastrointestinal stromal tumour that developed a delayed cutaneous adverse reaction 10 days after starting imatinib 400 mg daily. She developed the same symptoms with reintroduction at a dose of 100 mg and with an alternative tyrosine kinase inhibitor, nilotinib 50 mg/day. Given that imatinib was considered her best treatment, she underwent a long induction of drug tolerance (IDT) protocol to imatinib. Patient tolerated the medication without further reactions for 6 months and had improvement of her cancer per last imaging studies. IDT should be considered in delayed hypersensitivity reactions to imatinib after a failed reintroduction of the drug or when no other equally effective agents are available.


Assuntos
Antineoplásicos/administração & dosagem , Tolerância a Medicamentos/fisiologia , Tumores do Estroma Gastrointestinal/tratamento farmacológico , Mesilato de Imatinib/administração & dosagem , Antineoplásicos/efeitos adversos , Exantema/etiologia , Feminino , Tumores do Estroma Gastrointestinal/patologia , Humanos , Mesilato de Imatinib/efeitos adversos , Pessoa de Meia-Idade , Prurido/etiologia
12.
Niger J Clin Pract ; 23(12): 1776-1779, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33355835

RESUMO

Gastrointestinal tumors are uncommonly found outside the gastrointestinal tract, and extremely rare in the vaginal wall. In this case report, a 39-year-old female, she was finally diagnosed with an extra gastrointestinal stromal tumor (EGIST) when she presented with a recurrent vaginal tumor, while misdiagnosed after the first surgery. She had definitive surgical clearance and was taking targeted drug therapy with no sign of recurrence after follow-up for 13 months. Immunohistochemistry and cytogenetic's remain the most definitive method to diagnose EGISTs. Surgical resection and postoperative adjuvant targeted therapy are the optimum treatment options.


Assuntos
Tumores do Estroma Gastrointestinal , Adulto , Terapia Combinada , Feminino , Tumores do Estroma Gastrointestinal/diagnóstico , Tumores do Estroma Gastrointestinal/cirurgia , Humanos , Imuno-Histoquímica , Recidiva Local de Neoplasia , Vagina/cirurgia
13.
Surg Clin North Am ; 100(6): 1201-1214, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33128889

RESUMO

Minimally invasive endoscopic resection procedures continue to evolve, with submucosal tunneling endoscopic resection (STER) being a durable option for en bloc resection of submucosal tumors. Whether STER can be effectively used for larger (>3.5 cm) lesions remains to be seen. STER-ET is a novel approach for removal of extraluminal tumors, but data are currently limited to support its use.


Assuntos
Ressecção Endoscópica de Mucosa/métodos , Tumores do Estroma Gastrointestinal/cirurgia , Membrana Mucosa/cirurgia , Trato Gastrointestinal Superior/cirurgia , Mucosa Esofágica/cirurgia , Mucosa Gástrica/cirurgia , Neoplasias Gastrointestinais/cirurgia , Humanos
14.
Nihon Shokakibyo Gakkai Zasshi ; 117(10): 888-895, 2020.
Artigo em Japonês | MEDLINE | ID: mdl-33041300

RESUMO

In order to demonstrate the bleeding risk factors of GIST (gastrointestinal stromal tumor), we retrospectively investigated clinicopathological features between hemorrhagic (H group, 24 cases) and nonhemorrhagic GIST (NH group, 30 cases). In addition, we investigated features between the E group (6 cases) necessitating TAE (trans-catheter arterial embolization) and NE group (other 48 cases). Whereas H group partly includes high-risk grade GIST with chronic bleeding, meanwhile the E group (reflecting acute bleeding) is characterized by a highly enhanced mass with ulceration, comprising of smaller low-risk grade GIST. Amongst the 29 cases for forceps biopsy, which were 6 cases (21%) including one of E group, needed be hospitalized for postbiopsy bleeding. Acute bleeding in GIST may not be associated with malignant transformation. Postbiopsy bleeding or massive hemorrhage can also be encountered particularly in highly enhanced GIST with ulceration, even with a small and low-risk grade.


Assuntos
Embolização Terapêutica , Tumores do Estroma Gastrointestinal , Hemorragia Gastrointestinal/etiologia , Tumores do Estroma Gastrointestinal/diagnóstico por imagem , Tumores do Estroma Gastrointestinal/terapia , Humanos , Estudos Retrospectivos
15.
Nihon Shokakibyo Gakkai Zasshi ; 117(10): 914-918, 2020.
Artigo em Japonês | MEDLINE | ID: mdl-33041303

RESUMO

A fifty-year-old man with a liver metastasis of a duodenal gastrointestinal stromal tumor (GIST) previously treated with imatinib. Thirty-three months following initiation of the therapy, he visited the emergency room of our hospital presenting with an upper abdominal pain. Dynamic CT scan revealed a ruptured liver metastasis of duodenal GIST. We used transcatheter arterial embolization to stop the bleeding. Due to the rarity of this condition, we herein report this case with an article review.


Assuntos
Embolização Terapêutica , Tumores do Estroma Gastrointestinal , Neoplasias Hepáticas , Duodeno , Tumores do Estroma Gastrointestinal/diagnóstico por imagem , Tumores do Estroma Gastrointestinal/tratamento farmacológico , Humanos , Mesilato de Imatinib/uso terapêutico , Neoplasias Hepáticas/diagnóstico por imagem , Neoplasias Hepáticas/tratamento farmacológico , Masculino , Pessoa de Meia-Idade
16.
Medicine (Baltimore) ; 99(41): e22497, 2020 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-33031286

RESUMO

RATIONALE: Paragangliomas (PGLs) are rare neuroendocrine tumors that are strongly influenced by genetics, and succinate dehydrogenase-deficient PGLs appear to constitute one of the most important categories. Interestingly, somatic PGLs only possess genomic alterations involving the SDHB and SDHD subunits, and no SDHA alterations have been described. Here, we are presenting the clinical and genetic analyses of 2 cases with the first somatic SDHA variant identified in PGLs. PATIENT CONCERNS: Here, we reported 2 family members with the diagnosis of PGL. Patient 1 is a 55-year-old woman with a functionally perigastric PGL that co-occurred with a gastric gastrointestinal stromal tumor (GIST), and patient 2 is a 43-year-old woman with a nonfunctionally pericardial PGL, who was the younger sister of the first patient. DIAGNOSES: Imaging surveys of the 2 cases depicted the presence of a perigastric and a pericardial mass, respectively. A diagnosis of paragangliomas was established by immunohistochemistry (IHC). INTERVENTIONS: Both patients underwent single-stage resection of the lesion after preoperative oral α-adrenoceptor therapy for 2 weeks. We later performed comprehensive genomic profiling on the tumor samples, including PGL and GIST from patient 1 and PGL from patient 2, and searched for novel actionable mutations, including in all succinate dehydrogenase subunits, as the IHC results were negative for SDHB. OUTCOMES: Both patients had an uneventful recovery after surgery and the sequencing showed a novel somatic variant in the SDHA gene on chromosome 5q11 (c.1945_1946delTT). Regular follow-up with biochemical testing and image studies showed no evidence of recurrence after a year for patient 1 and 6 years for patient 2. LESSONS: PGLs often lead to considerable diagnostic difficulty due to their multiple anatomical locations and variable symptoms, as presented by our cases. The comprehensive use of images and plasma/urine catecholamine measurement can aid the diagnosis of PGLs. In addition, our findings also demonstrate the usefulness and importance of genetic analysis of SDHA mutations in patients exhibiting SDHB IHC-negative PGL. Additional studies utilizing comprehensive genomic profiling are needed to identify the group of PGLs harboring this SDHA genomic alteration.


Assuntos
Complexo II de Transporte de Elétrons/genética , Tumores do Estroma Gastrointestinal/genética , Neoplasias Primárias Múltiplas/genética , Paraganglioma Extrassuprarrenal/genética , Neoplasias Gástricas/genética , Adulto , Feminino , Tumores do Estroma Gastrointestinal/diagnóstico , Tumores do Estroma Gastrointestinal/patologia , Testes Genéticos , Humanos , Imuno-Histoquímica , Pessoa de Meia-Idade , Mutação , Paraganglioma Extrassuprarrenal/diagnóstico , Paraganglioma Extrassuprarrenal/patologia , Irmãos , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/patologia
17.
Drugs Today (Barc) ; 56(9): 561-571, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33025950

RESUMO

Avapritinib is a tyrosine kinase inhibitor (TKI) that has recently received Food and Drug Administration (FDA) approval for the treatment of metastatic or unresectable gastrointestinal stromal tumors harboring a platelet-derived growth factor receptor alpha (PDGFRA) exon 18 mutation. Mutations in the activation loop of PDGFRA or KIT confer resistance to conventional TKIs due to structural changes in the receptor. Avapritinib was developed to selectively target these mutations, thereby offering a new treatment option for patients in whom imatinib, sunitinib, and regorafenib have failed. This review covers the basic science and preclinical studies that guided avapritinib's development, in addition to the data currently available from early clinical studies as well as those later-stage trials that led to its approval.


Assuntos
Tumores do Estroma Gastrointestinal/tratamento farmacológico , Pirazóis/uso terapêutico , Pirróis/uso terapêutico , Triazinas/uso terapêutico , Ensaios Clínicos como Assunto , Tumores do Estroma Gastrointestinal/genética , Humanos , Mutação , Inibidores de Proteínas Quinases/uso terapêutico , Proteínas Proto-Oncogênicas c-kit/genética , Receptor alfa de Fator de Crescimento Derivado de Plaquetas/genética , Estados Unidos
18.
Medicine (Baltimore) ; 99(40): e22493, 2020 Oct 02.
Artigo em Inglês | MEDLINE | ID: mdl-33019445

RESUMO

RATIONALE: Gastrointestinal stromal tumors that present outside the gastrointestinal tract are known for extra-gastrointestinal stromal tumors (EGISTs) and they share the same morphological and immunohistochemical characteristics with gastrointestinal stromal tumors. Here we report a rare case of diffuse primary EGIST arising at peritoneum. PATIENT CONCERNS: A 57-year-old male presented to the hospital with abdominal pain and right lower abdominal tenderness. DIAGNOSIS: The core needle puncture biopsy showed epithelial-like cells and the nuclei were ovoid and focally elongated. Immunohistochemical examination was consistent with a primary EGIST of the peritoneum. INTERVENTIONS: The patient was treated with Imatinib mesylate. OUTCOMES: Five months later, there is no complication resulting from treatment. The follow-up abdominal contrast-enhanced CT showed the lesion was significantly decreased in size, and was evaluated as partial response. The patient continued the treatment with Imatinib as prescribed by the oncologist. LESSONS: EGISTs are rare and should be considered in the differential diagnosis of the peritoneal tumors and immunohistochemistry helps to confirm the diagnosis. Further study with longer follow-up is desired to characterize these uncommon tumors.


Assuntos
Tumores do Estroma Gastrointestinal/patologia , Neoplasias Peritoneais/patologia , Antineoplásicos/uso terapêutico , Tumores do Estroma Gastrointestinal/diagnóstico , Tumores do Estroma Gastrointestinal/tratamento farmacológico , Humanos , Mesilato de Imatinib/uso terapêutico , Masculino , Pessoa de Meia-Idade , Neoplasias Peritoneais/diagnóstico , Neoplasias Peritoneais/tratamento farmacológico
19.
Medicine (Baltimore) ; 99(36): e22125, 2020 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-32899097

RESUMO

RATIONALE: Primary gastric squamous cell carcinoma (SCC) is rarely encountered clinically. SCC, which presents as a submucosal tumor, is even rarer. Without the support of pathological evidence, it is difficult to make a correct preoperative diagnosis. Due to limited clinical data, the pathogenesis and treatment of gastric SCC remain unclear. PATIENT CONCERNS: A 69-year-old man was admitted to our hospital with unexplained weight loss. Endoscopy revealed a submucosal mass without any ulcer on its surface located on the body of the stomach. The results of 2 gastroscopic mucosal biopsies were chronic inflammation. DIAGNOSES: The clinical diagnosis by computed tomography (CT) and gastroscopy was gastrointestinal stromal tumor (GIST) preoperatively. The postoperative pathological examination demonstrated this tumor as moderately differentiated SCC. INTERVENTIONS: Total gastrectomy, distal pancreatectomy, and splenectomy were performed. OUTCOMES: The patient was discharged 7 days after the surgery without any complications. The follow-up CT scan showed no evidence of metastatic disease 6 months after surgery. LESSONS: Large primary gastric SCC could present as a submucosal mass. Gastroscopic mucosal biopsy may not be able to get tumor tissue due to inflammatory reaction.


Assuntos
Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/patologia , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/patologia , Idoso , Carcinoma de Células Escamosas/cirurgia , Diagnóstico Diferencial , Tumores do Estroma Gastrointestinal/diagnóstico , Humanos , Masculino , Neoplasias Gástricas/cirurgia
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