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1.
Artigo em Inglês | MEDLINE | ID: mdl-38782173

RESUMO

BACKGROUND & AIMS: Conventional endoscopic mucosal resection (C-EMR) is established as the primary treatment modality for superficial nonampullary duodenal epithelial tumors (SNADETs), but recently underwater endoscopic mucosal resection (U-EMR) has emerged as a potential alternative. The majority of previous studies focused on Asian populations and small lesions (≤20 mm). We aimed to compare the efficacy and outcomes of U-EMR vs C-EMR for SNADETs in a Western setting. METHODS: This was a retrospective multinational study from 10 European centers that performed both C-EMR and U-EMR between January 2013 and July 2023. The main outcomes were the technical success, procedure-related adverse events (AEs), and the residual/recurrent adenoma (RRA) rate, evaluated on a per-lesion basis. We assessed the association between the type of endoscopic mucosal resection and the occurrence of AEs or RRAs using mixed-effects logistic regression models (propensity scores). Sensitivity analyses were performed for lesions ≤20 mm or >20 mm. RESULTS: A total of 290 SNADETs submitted to endoscopic resection during the study period met the inclusion criteria and were analyzed (C-EMR: n = 201, 69.3%; U-EMR: n = 89, 30.7%). The overall technical success rate was 95.5% and comparable between groups. In logistic regression models, compared with U-EMR, C-EMR was associated with a significantly higher frequency of overall delayed AEs (odds ratio [OR], 4.95; 95% CI, 2.87-8.53), postprocedural bleeding (OR, 7.92; 95% CI, 3.95-15.89), and RRAs (OR, 3.66; 95% CI, 2.49-5.37). Sensitivity analyses confirmed these results when solely considering either small (≤20 mm) or large (>20 mm) lesions. CONCLUSIONS: Compared with C-EMR, U-EMR was associated with a lower rate of overall AEs and RRAs, regardless of lesion size. Our results confirm the possible role of U-EMR as an effective and safe technique in the management of SNADETs.

2.
Gastrointest Endosc ; 99(4): 511-524.e6, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37879543

RESUMO

BACKGROUND AND AIMS: Circumferential endoscopic submucosal dissection (cESD) in the esophagus has been reported to be feasible in small Eastern case series. We assessed the outcomes of cESD in the treatment of early esophageal squamous cell carcinoma (ESCC) in Western countries. METHODS: We conducted an international study at 25 referral centers in Europe and Australia using prospective databases. We included all patients with ESCC treated with cESD before November 2022. Our main outcomes were curative resection according to European guidelines and adverse events. RESULTS: A total of 171 cESDs were performed on 165 patients. En bloc and R0 resections rates were 98.2% (95% confidence interval [CI], 95.0-99.4) and 69.6% (95% CI, 62.3-76.0), respectively. Curative resection was achieved in 49.1% (95% CI, 41.7-56.6) of the lesions. The most common reason for noncurative resection was deep submucosal invasion (21.6%). The risk of stricture requiring 6 or more dilations or additional techniques (incisional therapy/stent) was high (71%), despite the use of prophylactic measures in 93% of the procedures. The rates of intraprocedural perforation, delayed bleeding, and adverse cardiorespiratory events were 4.1%, 0.6%, and 4.7%, respectively. Two patients died (1.2%) of a cESD-related adverse event. Overall and disease-free survival rates at 2 years were 91% and 79%. CONCLUSIONS: In Western referral centers, cESD for ESCC is curative in approximately half of the lesions. It can be considered a feasible treatment in selected patients. Our results suggest the need to improve patient selection and to develop more effective therapies to prevent esophageal strictures.


Assuntos
Ressecção Endoscópica de Mucosa , Neoplasias Esofágicas , Carcinoma de Células Escamosas do Esôfago , Humanos , Carcinoma de Células Escamosas do Esôfago/cirurgia , Neoplasias Esofágicas/patologia , Ressecção Endoscópica de Mucosa/métodos , Esofagoscopia/métodos , Resultado do Tratamento , Estudos Retrospectivos
3.
Gut ; 73(1): 105-117, 2023 Dec 07.
Artigo em Inglês | MEDLINE | ID: mdl-37666656

RESUMO

OBJECTIVE: To evaluate the risk factors for lymph node metastasis (LNM) after a non-curative (NC) gastric endoscopic submucosal dissection (ESD) and to validate and eventually refine the eCura scoring system in the Western setting. Also, to assess the rate and risk factors for parietal residual disease. DESIGN: Retrospective multicentre multinational study of prospectively collected registries from 19 Western centres. Patients who had been submitted to surgery or had at least one follow-up endoscopy were included. The eCura system was applied to assess its accuracy in the Western setting, and a modified version was created according to the results (W-eCura score). The discriminative capacities of the eCura and W-eCura scores to predict LNM were assessed and compared. RESULTS: A total of 314 NC gastric ESDs were analysed (72% high-risk resection (HRR); 28% local-risk resection). Among HRR patients submitted to surgery, 25% had parietal disease and 15% had LNM in the surgical specimen. The risk of LNM was significantly different across the eCura groups (areas under the receiver operating characteristic curve (AUC-ROC) of 0.900 (95% CI 0.852 to 0.949)). The AUC-ROC of the W-eCura for LNM (0.916, 95% CI 0.870 to 0.961; p=0.012) was significantly higher compared with the original eCura. Positive vertical margin, lymphatic invasion and younger age were associated with a higher risk of parietal residual lesion in the surgical specimen. CONCLUSION: The eCura scoring system may be applied in Western countries to stratify the risk of LNM after a gastric HRR. A new score is proposed that may further decrease the number of unnecessary surgeries.


Assuntos
Ressecção Endoscópica de Mucosa , Neoplasias Gástricas , Humanos , Neoplasias Gástricas/cirurgia , Neoplasias Gástricas/patologia , Estudos Retrospectivos , Fatores de Risco , Gastrectomia/métodos , Endoscopia Gastrointestinal , Mucosa Gástrica/cirurgia , Mucosa Gástrica/patologia
4.
Endoscopy ; 55(3): 245-251, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36228648

RESUMO

BACKGROUND : During endoscopic submucosal dissection (ESD), the normal mucosa is cut under constant optical control. We studied whether a positive horizontal resection margin after a complete en bloc ESD predicts local recurrence. METHODS: In this European multicenter cohort study, patients with a complete en bloc colorectal ESD were selected from prospective registries. Cases were defined by a horizontal resection margin that was positive or indeterminate for dysplasia (HM1), whereas controls had a free resection margin (HM0). Low risk lesions with submucosal invasion (T1) and margins free of carcinoma were analyzed separately. The main outcome was local recurrence. RESULTS: From 928 consecutive ESDs (2011-2020), 354 patients (40 % female; mean age 67 years, median follow-up 23.6 months), with 308 noninvasive lesions and 46 T1 lesions, were included. The recurrence rate for noninvasive lesions was 1/212 (0.5 %; 95 %CI 0.02 %-2.6 %) for HM0 vs. 2/96 (2.1 %; 95 %CI 0.57 %-7.3 %) for HM1. The recurrence rate for T1 lesions was 1/38 (2.6 %; 95 %CI 0.14 %-13.5 %) for HM0 vs. 2/8 (25 %; 95 %CI 7.2 %-59.1 %) for HM1. CONCLUSION: A positive horizontal resection margin after an en bloc ESD for noninvasive lesions is associated with a marginal nonsignificant increase in the local recurrence rate, equal to an ESD with clear horizontal margins. This could not be confirmed for T1 lesions.


Assuntos
Neoplasias Colorretais , Ressecção Endoscópica de Mucosa , Humanos , Feminino , Idoso , Masculino , Margens de Excisão , Estudos Prospectivos , Estudos de Coortes , Neoplasias Colorretais/cirurgia , Neoplasias Colorretais/patologia , Resultado do Tratamento , Recidiva Local de Neoplasia/patologia , Estudos Retrospectivos
5.
Endoscopy ; 55(3): 235-244, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-35863354

RESUMO

BACKGROUND : Endoscopic submucosal dissection (ESD) in colorectal lesions is technically demanding and a significant rate of noncurative procedures is expected. We aimed to assess the rate of residual lesions after a noncurative ESD for colorectal cancer (CRC) and to establish predictive scores to be applied in the clinical setting. METHODS : Retrospective multicenter analysis of consecutive colorectal ESDs. Patients with noncurative ESDs performed for the treatment of CRC lesions submitted to complementary surgery or with at least one follow-up endoscopy were included. RESULTS : From 2255 colorectal ESDs, 381 (17 %) were noncurative, and 135 of these were performed in CRC lesions. A residual lesion was observed in 24 patients (18 %). Surgery was performed in 96 patients and 76 (79 %) had no residual lesion in the colorectal wall or in the lymph nodes. The residual lesion rate for sm1 cancers was 0 %, and for > sm1 cancers was also 0 % if no other risk factors were present. Independent risk factors for lymph node metastasis were poor differentiation and lymphatic permeation (NC-Lymph score). Risk factors for the presence of a residual lesion in the wall were piecemeal resection, poor differentiation, and positive/indeterminate vertical margin (NC-Wall score). CONCLUSIONS : Lymphatic permeation or poor differentiation warrant surgery owing to their high risk of lymph node metastasis, mainly in > sm1 cancers. In the remaining cases, en bloc and R0 resections resulted in a low risk of residual lesions in the wall. Our scores can be a useful tool for the management of patients who undergo noncurative colorectal ESDs.


Assuntos
Neoplasias Colorretais , Ressecção Endoscópica de Mucosa , Humanos , Ressecção Endoscópica de Mucosa/efeitos adversos , Ressecção Endoscópica de Mucosa/métodos , Metástase Linfática , Endoscopia , Estudos Retrospectivos , Neoplasia Residual , Neoplasias Colorretais/cirurgia , Neoplasias Colorretais/patologia , Resultado do Tratamento
6.
Rev Esp Enferm Dig ; 115(4): 214-215, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36719331

RESUMO

A 17-year-old male with no previous medical history presented with a 1-year history of rectal bleeding, mucus discharge and occasional rectal prolapse. Colonoscopy revealed several polypoidal growth masses in the distal rectum, formed by multiple sessile polyps with a glistening mucus-covered surface and fleshy, friable appearance, that coalesced forming large conglomerates. Given their complexity and large size, piecemeal endoscopic mucosal resection of the rectal lesions was performed and histopathological examination revealed ulcerated polypoid mucosa with mixed inflammatory cell infiltrate in the lamina propria and dilated cystic mucus-filled glands. Remarkably, bony trabeculae surrounded by osteoblastic cells were also seen. These findings were consistent with juvenile polyps with foci of osseous metaplasia. Osseous metaplasia has been described in a wide variety of tissue types, such as prostate, uterus, breasts, lungs and urinary tract, with respect to both neoplastic and non-neoplastic conditions. However, it is exceedingly rare in colonic polyps and, to the best of our knowledge, only 9 cases have been described in juvenile polyps.


Assuntos
Calcinose , Coristoma , Pólipos do Colo , Ressecção Endoscópica de Mucosa , Hamartoma , Pólipos , Masculino , Feminino , Humanos , Adolescente , Pólipos Intestinais/cirurgia , Pólipos do Colo/patologia , Reto/cirurgia , Colonoscopia , Coristoma/patologia , Hamartoma/patologia , Metaplasia , Pólipos/patologia
7.
Rev Esp Enferm Dig ; 115(10): 585-586, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-36633164

RESUMO

A 40-year-old male with no previous medical history presented to emergency department with a 2-week history of progressive dyspnea. He also described night sweats and weight loss (15 kg) during the last 3 months. Thoraco-abdominal computed tomography showed multiple bilateral lung nodules associated with supra-clavicular, hilar and peri-esophageal lymphadenopathies and gastric parietal thickening. These imaging features were suggestive of primary gastric cancer with lung and lymph node metastases. Therefore, he undergone upper digestive endoscopy that showed a large ulcerated protruding lesion at the greater curvature of the body suggestive of malignancy. Gastric biopsies of the lesion confirmed a solid neoplasia constituted by solid nests and sheets of highly pleomorphic, bizarre cells with cytotrophoblastic and syncytiotrophoblastic differentiation that, on immunohistochemistry, stained positive for ß-HCG, SALL-4 and glypican-3. CT-guided biopsy of lung nodules revealed malignant cells with similar histopathological and immunohistochemical features. Elevated serum alpha-fetoprotein and ß-HCG were also detected. Clinical and ultrasound examination were negative for testicular masses. These findings were consistent with a primary gastric choriocarcinoma presenting with lung and lymph node metastases (stage IV). Although chemotherapy was started, the patient evolved unfavorably and died after 9 months. Primary gastric choriocarcinoma is a rare and aggressive gastrointestinal malignancy. This case demonstrates its rapid growth rate and high metastatic potential that may lead to symptoms from secondary involvement of distant organs.


Assuntos
Coriocarcinoma , Neoplasias Gástricas , Adulto , Humanos , Masculino , Coriocarcinoma/diagnóstico por imagem , Coriocarcinoma/patologia , Metástase Linfática , Neoplasias Gástricas/diagnóstico por imagem , Neoplasias Gástricas/patologia , Tomografia Computadorizada por Raios X
8.
Rev Esp Enferm Dig ; 115(1): 16-21, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-35297258

RESUMO

BACKGROUND AND AIM: Amyloidosis is a systemic disease characterized by extracellular deposition of amyloid protein, most commonly in the heart and kidney. Hepatic amyloidosis is a rare form of presentation that ranges from mild hepatomegaly and altered liver biochemical tests to acute liver failure. The aims of this study were to evaluate the prevalence of amyloidosis in patients undergoing liver biopsy and describe its main clinical characteristics and prognostic impact. METHODS: A retrospective analysis of all patients with a histological diagnosis of hepatic amyloidosis between January 2010 and December 2019 was performed. MAJOR RESULTS: A total of 7 patients were identified from a total of 1773 liver biopsy procedures (0.4%), with a female predominance (6/7) and median age of diagnosis of 62 years. The most common clinical manifestations included hepatomegaly (4/7), jaundice (2/7) and peripheral edema (2/7), whereas 3/7 patients were asymptomatic. Every patient presented abnormalities in liver biochemical tests, more commonly cholestasis (6/7), but also cytolysis (4/7) or hyperbilirubinemia (2/7). Abnormal imaging findings included hepatomegaly, steatosis or parenchymal heterogeneity. In most patients (5/7), other organs were involved, most commonly with nephrotic syndrome (3/7) and infiltrative cardiomyopathy (3/7). The most common type was AA amyloidosis (3/7) followed by AL amyloidosis (2/7). The 1-year mortality rate was 43% and the median survival was 24 months. CONCLUSIONS: We report a low prevalence (0.4%) of amyloidosis among patients undergoing liver biopsy. Although rare, hepatic amyloidosis is associated with a dismal prognosis and a high index of suspicion is crucial to achieve an early diagnosis. .


Assuntos
Amiloidose , Falência Hepática Aguda , Humanos , Feminino , Pessoa de Meia-Idade , Masculino , Hepatomegalia/complicações , Hepatomegalia/diagnóstico , Hepatomegalia/patologia , Estudos Transversais , Estudos Retrospectivos , Amiloidose/complicações
9.
Dig Dis ; 40(6): 835-838, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35081538

RESUMO

A 48-year-old woman was admitted in the emergency department due to epigastric pain, nausea, vomiting, and cough. She presented with fever and increased inflammatory parameters. A thoracoabdominal computed tomography (CT) was performed and revealed thickening of the gastric fundus and esophagus, with an apparent laceration in esophageal mucosa and associated dissection of esophageal wall. In upper endoscopy (UE), a bulging of esophageal and gastric walls was observed, with an ulceration in proximal esophagus, suggestive of a perforation. After multidisciplinary discussion, a minimally invasive endoscopic approach was decided. Internal esophageal drainage (IED) was assured with performance of some incisions with Dual-knife® (Olympus, Tokyo) along the mucosal and submucosal layers in the esophagus. During the incision, extravasation of pus was evident. One week later, due to clinical worsening and evidence of esophageal perforation in CT scan, UE was repeated. We confirmed esophageal perforation with visualization of two millimetric defects in the proximal esophagus. Significant bulging of the gastric fundus and body was also observed. IED was repeated with mucosal incision of the gastric bulging using Needle-Cut 3V® (Olympus, Tokyo), with extravasation of a significant quantity of pus. We decided to proceed to endoscopic vacuum therapy that was performed with sponge placement in the esophageal lumen (Endosponge®, B. Braun, Melsungen, Germany). UE was repeated 1 week later with sponge removal and confirmation of resolution of esophageal perforation. An improvement of the thickening of gastric fundus and body was also seen. One month later after admission, the patient was discharged home, eating normally, and remains well in the follow-up.


Assuntos
Perfuração Esofágica , Esofagite , Feminino , Humanos , Pessoa de Meia-Idade , Perfuração Esofágica/cirurgia , Gastroscopia , Supuração
10.
Rev Esp Enferm Dig ; 114(8): 489-490, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-34517710

RESUMO

A 79-year-old male, with a past medical history of hypertension, dyslipidemia and type 2 diabetes, underwent routine esophagogastroduodenoscopy and colonoscopy. The patient was asymptomatic, with unremarkable blood tests. Upper gastrointestinal endoscopy showed multiple whitish nodular lesions in the first part of the duodenum.


Assuntos
Diabetes Mellitus Tipo 2 , Neoplasias Duodenais , Linfoma Folicular , Idoso , Neoplasias Duodenais/diagnóstico por imagem , Neoplasias Duodenais/patologia , Duodeno/patologia , Endoscopia Gastrointestinal , Humanos , Linfoma Folicular/diagnóstico por imagem , Linfoma Folicular/patologia , Masculino
11.
Rev Esp Enferm Dig ; 114(10): 592-598, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-34818895

RESUMO

BACKGROUND AND AIM: gastric inflammatory fibroid polyps constitute only 0.1 % of all gastric polyps. They are usually amenable to resection by snare polypectomy. However, on rare occasions, these lesions may require resection by endoscopic submucosal dissection. This study aimed to evaluate the effectiveness and safety of endoscopic submucosal dissection in the management of gastric inflammatory fibroid polyps not amenable to resection with snare polypectomy. METHODS: a retrospective observational study of all consecutive patients who underwent endoscopic submucosal dissection for gastric inflammatory fibroid polyps between January 2011 and December 2020 was performed. RESULTS: there were nine cases of gastric inflammatory fibroid polyps resected by endoscopic submucosal dissection. Most patients were female (7/9) with a mean age of 62.2 years. All gastric inflammatory fibroid polyps were described as solitary antral subepithelial lesions with a mean diameter of 16.7 mm, which appeared well-circumscribed and homogeneous lesions located at muscularis mucosa and submucosa without deeper invasion on endoscopic ultrasound. All lesions were successfully resected by en bloc and complete resection with free margins obtained in 8/9 specimens. Adverse events were reported in 2/9 cases including one intra-procedural bleeding successfully controlled with hemostatic clips and one aspiration pneumonia that evolved favorably. Mean follow-up duration was 33.7 months and no delayed complications or cases of recurrence were reported. CONCLUSIONS: endoscopic submucosal dissection appears safe and effective for the resection of gastric inflammatory fibroid polyps that present as large subepithelial lesions, if performed by experienced endoscopists after adequate characterization by endoscopic ultrasound, with high rates of technical success and low recurrence rates.


Assuntos
Ressecção Endoscópica de Mucosa , Neoplasias Gastrointestinais , Hemostáticos , Leiomioma , Neoplasias de Tecido Fibroso , Pólipos , Neoplasias Gástricas , Feminino , Mucosa Gástrica/patologia , Mucosa Gástrica/cirurgia , Humanos , Leiomioma/patologia , Masculino , Pessoa de Meia-Idade , Neoplasias de Tecido Fibroso/patologia , Pólipos/patologia , Pólipos/cirurgia , Estudos Retrospectivos , Neoplasias Gástricas/patologia , Neoplasias Gástricas/cirurgia , Resultado do Tratamento
12.
Rev Esp Enferm Dig ; 114(7): 425-427, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35105152

RESUMO

Gastrointestinal involvement occurs in approximately 4% of cases of systemic amyloidosis. The most common site of amyloid deposition is small bowel, followed by stomach, colorectum and esophagus. Although rare, gastrointestinal amyloidosis may be associated with severe complications including gastrointestinal bleeding or perforation and may be mistaken for malignancy.


Assuntos
Amiloidose , Gastroenteropatias , Amiloidose/complicações , Amiloidose/diagnóstico por imagem , Gastroenteropatias/complicações , Gastroenteropatias/diagnóstico por imagem , Hemorragia Gastrointestinal/complicações , Hemorragia Gastrointestinal/etiologia , Humanos , Estômago/patologia
13.
Chirurgia (Bucur) ; 117(5): 535-543, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36318683

RESUMO

Background: Colonoscopy is currently the gold-standard for the detection of colorectal lesions, but its accuracy in tumor localization is limited. This study aims to determine the accuracy of colonoscopy in localization of colorectal malignancy, identify possible influencing factors and evaluate the surgical consequences of an incorrect preoperative localization. Methods: A retrospective cross-sectional study of all patients with colorectal malignant lesions diagnosed by colonoscopy who underwent subsequent resection surgery between January 2019 and December 2020 was performed. Colonoscopy accuracy was evaluated in terms of correspondence between endoscopic and intra-operative tumor localization. Results: A total of 115 patients were included, mostly males (63.5%), with mean age of 68.7 years. There was concordance between endoscopic and intra-operative localization in 76 cases, which corresponds to an accuracy of 66.1%. Colonoscopy completeness (p=0.008) and adequate bowel preparation (p=0.023) were significantly associated with greater concordance between endoscopic and intra-operative tumor location. Of the 39 incorrectly localized lesions, 19 (48.7%) required changes in surgical management. Conclusion: Colonoscopy is often inaccurate for localizing malignant colorectal lesions, which may frequently result in intra-operative changes in surgical strategy. Colonoscopy completeness and adequate bowel preparation were significant predictors for a correct endoscopic localization, underscoring the importance of colonoscopy quality for this particular indication.


Assuntos
Colonoscopia , Neoplasias Colorretais , Masculino , Humanos , Idoso , Feminino , Estudos Retrospectivos , Estudos Transversais , Resultado do Tratamento , Neoplasias Colorretais/cirurgia
14.
Rev Esp Enferm Dig ; 113(7): 550-551, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33267601

RESUMO

A 50-year-old female with ulcerative colitis (UC) (pancolitis) for 13 years was referred for a screening colonoscopy. At onset, she presented with severely active disease and required intravenous corticosteroids to induce remission. Since then, the disease has been in remission with oral mesalamine and azathioprine and she remains steroid-free, without new episodes of hospitalization. She was asymptomatic and had no other relevant medical history.


Assuntos
Colite Ulcerativa , Divertículo , Anti-Inflamatórios não Esteroides/uso terapêutico , Azatioprina/uso terapêutico , Colite Ulcerativa/complicações , Colite Ulcerativa/tratamento farmacológico , Colonoscopia , Feminino , Humanos , Mesalamina/uso terapêutico , Pessoa de Meia-Idade
16.
Gastrointest Endosc ; 87(6): 1566-1575, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29454568

RESUMO

BACKGROUND AND AIMS: The time course for the development of clinically significant hereditary diffuse gastric cancer (HDGC) is unpredictable. Little is known about the progression from preclinical, indolent lesions to widely invasive, aggressive phenotypes. Gastroendoscopy often fails to detect early lesions, and risk-reducing/prophylactic total gastrectomy (PTG) is the only curative approach. We present an HDGC family with early-onset disease in which clinical and histologic findings provided insight into the understanding of different HDGC phenotypes. METHODS: The proband was diagnosed at age 18 years with widely invasive, metastatic DGC. CDH1 genetic testing identified a pathogenic, germline CDH1 variant (c.1901C>T, p.Ala634Val). Thirty family members were tested, and 15 CDH1 carriers were identified. RESULTS: Six family members had PTG, with negative preoperative workup. The proband's 14-year-old sister is the youngest patient, reported to date, to have PTG after negative preoperative biopsy sampling. Intramucosal HDGC foci were detected in all PTG specimens (1-33). In contrast to the "indolent" phenotype of these foci, the aggressive DGC from the proband showed pleomorphic cells, absent E-cadherin expression, increased proliferation (Ki-67 index), and activation of oncogenic events (p53, pSrc and pStat3 overexpression). All family members had Helicobacter pylori gastritis. Cag-A-positive strains were detected in all specimens, except in the proband's sister. CONCLUSIONS: HDGC is a heterogeneous disease regarding clinical behavior, endoscopic findings, histopathologic features, and immunophenotypic/molecular profile. The presence of bizarre, pleomorphic cells in endoscopic biopsy specimens is suggestive of advanced disease and should prompt clinical intervention. The involvement of a full multidisciplinary team is essential for the management of these patients.


Assuntos
Neoplasias da Mama/patologia , Carcinoma Lobular/patologia , Síndromes Neoplásicas Hereditárias/patologia , Neoplasias Gástricas/patologia , Adolescente , Adulto , Idade de Início , Idoso de 80 Anos ou mais , Antígenos CD , Neoplasias da Mama/genética , Caderinas/genética , Carcinoma Lobular/genética , Família , Feminino , Gastrectomia , Gastrite/complicações , Gastrite/microbiologia , Gastroscopia , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Infecções por Helicobacter/complicações , Helicobacter pylori , Humanos , Antígeno Ki-67/metabolismo , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Síndromes Neoplásicas Hereditárias/complicações , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/prevenção & controle , Linhagem , Fenótipo , Procedimentos Cirúrgicos Profiláticos , Neoplasias Gástricas/complicações , Neoplasias Gástricas/genética , Neoplasias Gástricas/prevenção & controle , Proteína Supressora de Tumor p53/metabolismo , Adulto Jovem
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