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Cancro gástrico hereditário difuso : o estado da arte
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O Cancro Gástrico Hereditário Difuso (CGHD) é uma forma rara de aparecimento de cancro gástrico (CG) que apresenta uma penetrância familiar elevada. É causado, em cerca de 40% dos casos, por mutações na proteína de adesão celular E-Caderina. Esta proteína é codificada no gene CDH1 e as suas mutações conferem um elevado risco de CG Diffuso e de Carcinoma Lobular da Mama (CML). Mutações da E-Caderina relacionam-se com o aparecimento de CG em doentes jovens, que é caracterizado pela existência de múltiplos foci de Carcinoma de Células em Anel de Sinete (CCAS) de muito pequenas dimensões profundamente a uma mucosa geralmente intacta. Por isso, os métodos de rastreio endoscópico e biópsias gástricas aleatórias têm-se revelado incapazes na detecção de neoplasia, em exames pré-operatórios. Desta forma, os doentes portadores de mutações patológicas no gene CDH1 têm indicação para Gastrectomia Total, entre os 20 e os 30 anos de idade, não sendo ainda consensual a extensão da linfadenectomia usada. Em mulheres portadoras de mutações no CDH1, está recomendado a realização de Ressonância Magnética (RM) mamária bilateral, associada ou não a Mamografia, desde os 30 anos, com periodicidade anual.
Hereditary Diffuse Gastric Cancer (HDGC) is an inherited type of Gastric Cancer (GC), in about 40% of cases it is caused, by a germline mutation in cell adhesion protein E-Cadherin and has a high familial penetrance. This protein is encoded in CDH1 gene and its mutations grant a considerable risk of development of Diffuse GC and Lobular Brest Cancer (LBC). E-Cadherin germline mutations are associated with the arising of Diffuse GC in very young patients and it is featured by the arising of many very small foci of Signet Ring Cell Carcinoma (SRCC) usually beneath lesion free (intact) mucosa, as such endoscopic surveillance methods and random gastric biopsies have been unable to reveal such lesions prior to surgery. Thus, CDH1 pathologic mutation carriers should be advised to undergo Total Gastrectomy at an early age, generally between ages 20 and 30, however, there is still not a general agreement on the extent of lymphadenectomy. It is also recommended annual bilateral Breast Magnetic Resonance Imaging (MRI) starting at age 30 in female CDH1 germline mutation carriers, which may be associated with Mammography.
Hereditary Diffuse Gastric Cancer (HDGC) is an inherited type of Gastric Cancer (GC), in about 40% of cases it is caused, by a germline mutation in cell adhesion protein E-Cadherin and has a high familial penetrance. This protein is encoded in CDH1 gene and its mutations grant a considerable risk of development of Diffuse GC and Lobular Brest Cancer (LBC). E-Cadherin germline mutations are associated with the arising of Diffuse GC in very young patients and it is featured by the arising of many very small foci of Signet Ring Cell Carcinoma (SRCC) usually beneath lesion free (intact) mucosa, as such endoscopic surveillance methods and random gastric biopsies have been unable to reveal such lesions prior to surgery. Thus, CDH1 pathologic mutation carriers should be advised to undergo Total Gastrectomy at an early age, generally between ages 20 and 30, however, there is still not a general agreement on the extent of lymphadenectomy. It is also recommended annual bilateral Breast Magnetic Resonance Imaging (MRI) starting at age 30 in female CDH1 germline mutation carriers, which may be associated with Mammography.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2016
Palavras-chave
Neoplasias gástricas Síndromes neoplásicas hereditárias Estômago Caderinas Carcinoma lobular Neoplasias da mama