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Carcinoma endometrioide com deficiência de MMR: à propósito de um caso clínico
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Authors
Abstract(s)
O Carcinoma Endometrioide ou Carcinoma Endometrial Endometrioide (CEE) com
deficiência de MMR (dMMR) é um tipo de carcinoma endometrial com incidência
especialmente elevada nos países industrializados.
Trata-se de um tumor que se apresenta sob forma de hemorragia uterina anormal
principalmente em mulheres na pós-menopausa no decorrer de uma exposição
prolongada do endométrio ao estrogénio ou no decorrer de mutações herdadas
geneticamente (como é o caso da Síndrome de Lynch), levando na maioria dos casos à
uma hiperplasia endometrial atípica que evolui para carcinoma.
A dMMR ocorre devido à perda de expressão em um dos seus genes, responsáveis por
manter a integridade do DNA. O que ocorre mais frequentemente é a perda de expressão
de MLH1 e PMS2, devido à metilação do promotor de MLH1 de forma esporádica. Isto
faz com que partes do DNA, acumulem erros levando a um fenómeno chamada
instabilidade de microssatélites (IMS).
Tumores com dMMR apresentam globalmente um prognóstico intermediário, por isso
uma adequada gestão diagnóstica e terapêutica são fundamentais para evitar recidiva
destes carcinomas.
O diagnóstico é histológico, realizado por meio de biópsia do endométrio após
histerectomia total. Em casos de baixo risco o tratamento geralmente é curativo (cirurgia
com histerectomia e salpingo-ooforectomia), mas para um risco intermediário a alto é
necessária terapia adjuvante. Já nos estadios avançados ou recorrentes, a combinação de
quimioterapia com imunoterapia demonstrou melhores resultados.
Neste trabalho é apresentado um caso clínico de uma mulher de 55 anos que se dirigiu à
urgência da Unidade Local de Saúde Cova da Beira por queixas de metrorragias pósmenopausa. A ecografia mostrou espessamento endometrial na região fúndica pelo que
foi proposta histeroscopia com biópsia que revelou hiperplasia atípica do endométrio. O
exame imunohistoquímico mostrou presença de instabilidade de microssatélites e
alteração da expressão do gene MLH1. Foi então proposta uma histerectomia total com
anexectomia bilateral que revelou um Carcinoma Endometrioide estadio IA3 de grau 1
com dMMR.
A partir deste caso clínico fez-se uma revisão da literatura sobre o Carcinoma
Endometrioide com dMMR, de forma a apresentar neste trabalho os diversos fatores de
risco que têm contribuido para o aumento deste tipo de carcinoma, bem como os desafios diagnósticos e terapêuticos associados, através de uma revisão de literatura e
comparação com um caso clínico.
Endometrioid Carcinoma or Endometrial Endometrial Carcinoma (EEC) with MMR deficiency (MMRd) is a type of endometrial carcinoma with a particularly high incidence in industrialized countries. This is a tumor that presents itself in the form of abnormal uterine bleeding mainly in postmenopausal women during prolonged exposure of the endometrium to estrogen or during genetically inherited mutations (as is the case with Lynch Syndrome). leading in most cases to atypical endometrial hyperplasia that evolves into carcinoma. MMR deficiency occurs due to the loss of expression in one of its genes, responsible for maintaining DNA integrity. What occurs most frequently is the loss of expression of MLH1 and PMS2, due to sporadic methylation of the MLH1 promoter. This causes parts of the DNA that repeat to accumulate errors, leading to a phenomenon called microsatellite instability (MSI). dMMR tumors generally present an intermediate prognosis, therefore adequate diagnostic and therapeutic management are essential to prevent recurrence of these carcinomas. The diagnosis is histological, carried out through endometrial biopsy after total hysterectomy. In low-risk cases, treatment is usually curative (surgery with hysterectomy and salpingo-oophorectomy), but for intermediate to high risk, adjuvant therapy is necessary. In advanced or recurrent stages, the combination of chemotherapy and immunotherapy has demonstrated better results. This paper presents a clinical case of a 55-year-old woman who went to the emergency room at the Cova da Beira Local Health Unit due to complaints of postmenopausal metrorrhagia. Ultrasound showed endometrial thickening in the fundic region, so hysteroscopy with biopsy was performed, which revealed atypical endometrial hyperplasia. Immunohistochemical examination showed the presence of microsatellite instability and alteration in the expression of the MLH1 gene. A total hysterectomy with bilateral adnexectomy was then proposed, which revealed a stage IA3 grade 1 Endometrioid Carcinoma with MMRd. Based on this clinical case, a review of the literature on Endometrioid Carcinoma with MMR deficiency was carried out in order to present in this work the various risk factors that have contributed to the increase in this type of carcinoma, as well as the diagnostic and therapeutic challenges. associates, through a literature review and comparison with a clinical case.
Endometrioid Carcinoma or Endometrial Endometrial Carcinoma (EEC) with MMR deficiency (MMRd) is a type of endometrial carcinoma with a particularly high incidence in industrialized countries. This is a tumor that presents itself in the form of abnormal uterine bleeding mainly in postmenopausal women during prolonged exposure of the endometrium to estrogen or during genetically inherited mutations (as is the case with Lynch Syndrome). leading in most cases to atypical endometrial hyperplasia that evolves into carcinoma. MMR deficiency occurs due to the loss of expression in one of its genes, responsible for maintaining DNA integrity. What occurs most frequently is the loss of expression of MLH1 and PMS2, due to sporadic methylation of the MLH1 promoter. This causes parts of the DNA that repeat to accumulate errors, leading to a phenomenon called microsatellite instability (MSI). dMMR tumors generally present an intermediate prognosis, therefore adequate diagnostic and therapeutic management are essential to prevent recurrence of these carcinomas. The diagnosis is histological, carried out through endometrial biopsy after total hysterectomy. In low-risk cases, treatment is usually curative (surgery with hysterectomy and salpingo-oophorectomy), but for intermediate to high risk, adjuvant therapy is necessary. In advanced or recurrent stages, the combination of chemotherapy and immunotherapy has demonstrated better results. This paper presents a clinical case of a 55-year-old woman who went to the emergency room at the Cova da Beira Local Health Unit due to complaints of postmenopausal metrorrhagia. Ultrasound showed endometrial thickening in the fundic region, so hysteroscopy with biopsy was performed, which revealed atypical endometrial hyperplasia. Immunohistochemical examination showed the presence of microsatellite instability and alteration in the expression of the MLH1 gene. A total hysterectomy with bilateral adnexectomy was then proposed, which revealed a stage IA3 grade 1 Endometrioid Carcinoma with MMRd. Based on this clinical case, a review of the literature on Endometrioid Carcinoma with MMR deficiency was carried out in order to present in this work the various risk factors that have contributed to the increase in this type of carcinoma, as well as the diagnostic and therapeutic challenges. associates, through a literature review and comparison with a clinical case.
Description
Keywords
Hiperplasia Endometrial Carcinoma Endometrial Carcinoma Endometrioide Deficiência no Sistema de
Reparação dos Erros de Emparelhamento Instabilidade de Microssatélites (Ims)