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A Case of Perimenopausal Endometrial Cancer in a Woman with MSH2 Germline Mutation
Journal of Menopausal Medicine ; : 143-146, 2013.
Artículo en Inglés | WPRIM | ID: wpr-199877
ABSTRACT
Lynch syndrome is a genetic malignancy syndrome affecting the colon, endometrium, and other organs. It is difficult to find a Lynch syndrome patient without any family history of cancer. We have recently examined an endometrial cancer patient with a MSH2 gene mutation without a family history of cancer. A 55-year old Korean woman was admitted to a local clinic for vaginal bleeding. An endometrial biopsy revealed the presence of adenocarcinoma (endometrioid type, grade 1). After surgical staging, no further adjuvant therapy was required. Analysis of the tissue using immunohistochemistry (IHC) showed the endometrium stained negatively for MSH2. Microsatellite instability (MSI) was analyzed for five markers. The patient was scored as unstable. Further, additional gene sequencing revealed one missense mutation in c.23C > T (p.Thr8Met). This is the first case of Lynch syndrome endometrial cancer in Korea in which the patient does not have any family history of cancer.
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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Hemorragia Uterina / Biopsia / Inmunohistoquímica / Adenocarcinoma / Neoplasias Colorrectales Hereditarias sin Poliposis / Neoplasias Endometriales / Colon / Mutación de Línea Germinal / Mutación Missense / Endometrio Límite: Femenino / Humanos País/Región como asunto: Asia Idioma: Inglés Revista: Journal of Menopausal Medicine Año: 2013 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Hemorragia Uterina / Biopsia / Inmunohistoquímica / Adenocarcinoma / Neoplasias Colorrectales Hereditarias sin Poliposis / Neoplasias Endometriales / Colon / Mutación de Línea Germinal / Mutación Missense / Endometrio Límite: Femenino / Humanos País/Región como asunto: Asia Idioma: Inglés Revista: Journal of Menopausal Medicine Año: 2013 Tipo del documento: Artículo