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1.
Br J Cancer ; 100(11): 1777-83, 2009 Jun 02.
Artigo em Inglês | MEDLINE | ID: mdl-19401695

RESUMO

Screening of REarranged during Transfection (RET) gene mutations has been carried out in different series of sporadic medullary thyroid carcinomas (MTC). RET-positive tumours seem to be associated to a worse clinical outcome. However, the correlation between the type of RET mutation and the patients' clinicopathological data has not been evaluated yet. We analysed RET exons 5, 8, 10-16 in fifty-one sporadic MTC, and found somatic mutations in thirty-three (64.7%) tumours. Among the RET-positive cases, exon 16 was the most frequently affected (60.6%). Two novel somatic mutations (Cys630Gly, c.1881del18) were identified. MTC patients were divided into three groups: group 1, with mutations in RET exons 15 and 16; group 2, with other RET mutations; group 3, having no RET mutations. Group 1 had higher prevalence (P=0.0051) and number of lymph node metastases (P=0.0017), and presented more often multifocal tumours (P=0.037) and persistent disease at last control (P=0.0242) than group 2. Detectable serum calcitonin levels at last screening (P=0.0119) and stage IV disease (P=0.0145) were more frequent in group 1, than in the other groups. Our results suggest that, among the sporadic MTC, cases with RET mutations in exons 15 and 16 are associated with the worst prognosis. Cases with other RET mutations have the most indolent course, and those with no RET mutations have an intermediate risk.


Assuntos
Proteínas Proto-Oncogênicas c-ret/genética , Neoplasias da Glândula Tireoide/genética , Neoplasias da Glândula Tireoide/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética , Prognóstico , Proteínas Proto-Oncogênicas c-ret/metabolismo , Neoplasias da Glândula Tireoide/metabolismo
2.
HPB Surg ; 10(4): 201-9, 1997.
Artigo em Inglês | MEDLINE | ID: mdl-9184873

RESUMO

Nesidioblastosis is an exceedingly rare occurrence in the adult and, when it appears, it is usually part of a MEA1 syndrome. We present a case of nesidioblastosis in a young woman, with no concurrent endocrine pathology, while we discuss in detail the diagnostic and therapeutic problems posed by this condition. The selected treatment was sub-total pancreatectomy (70-80%) and the histopathologic and immunohistochemical tests of the surgical specimen showed: "Diffuse Nesidioblastosis". The histopathologic and immuno-histochemical features of the resected pancreas are analysed in detail.


Assuntos
Ilhotas Pancreáticas/patologia , Pancreatectomia/métodos , Pancreatopatias/cirurgia , Adulto , Feminino , Humanos , Técnicas Imunoenzimáticas , Ilhotas Pancreáticas/metabolismo , Pancreatopatias/metabolismo , Pancreatopatias/patologia
3.
Acta Med Port ; 6(3-4): 123-8, 1993.
Artigo em Português | MEDLINE | ID: mdl-8317230

RESUMO

We report 3 years of experience with operative ultrasonography on 200 patients who underwent cholecystectomy for biliary lithiasis. Intraoperative ultrasonography and intraoperative cholangiography were performed on all of these patients and compared with the operative findings. The diagnostic accuracy of sonography was 98% and that of cholangiography 96% in the whole patient group. The predictive value of a positive ultrasonography was 92.5% while that of a positive cholangiogram was lower at 81.5%. In 32 patients who underwent surgical exploration of the common duct the use of these two intraoperative screening tests together led to a positive common duct exploration in 75% of the patients. Overall morbidity in this series was 4.8% against 12.8% (common duct exploration) and retained stones following duct exploration were present in 1 patient in intra-hepatic situation. The overall mortality rate of the entire patient group was 0%. Operative ultrasonography of the biliary tract as a screening procedure is a reliable method, a possible substitute for operative cholangiography, but perhaps in reality both methods are complementary.


Assuntos
Colangiografia , Ducto Colédoco/diagnóstico por imagem , Cálculos Biliares/diagnóstico por imagem , Cuidados Intraoperatórios , Adulto , Idoso , Idoso de 80 Anos ou mais , Colecistectomia , Ducto Colédoco/cirurgia , Estudos de Avaliação como Assunto , Feminino , Cálculos Biliares/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Ultrassonografia
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