Two Cases of Thymic Cancer in Patients with Lynch Syndrome

We herein report two cases of thymic cancer with Lynch syndrome showing a high frequency of microsatellite instability and loss of mismatch repair protein expression without MLH1 promoter hyper-methylation. In Case 1, a 71-year-old man had a pathogenic germline variant in MLH1 and underwent tumor re...

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Detalles Bibliográficos
Autores principales: Watanabe, Mototsugu, Tanakaya, Kohji, Furukawa, Shinichi, Shiotani, Toshio, Sato, Yumiko, Taniguchi, Fumitaka, Kanaya, Nobuhiko, Aoki, Hideki, Sugano, Koukichi, Ishida, Hideyuki, Akagi, Kiwamu, Kataoka, Kazuhiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10017246/
https://www.ncbi.nlm.nih.gov/pubmed/35908972
http://dx.doi.org/10.2169/internalmedicine.9729-22
Descripción
Sumario:We herein report two cases of thymic cancer with Lynch syndrome showing a high frequency of microsatellite instability and loss of mismatch repair protein expression without MLH1 promoter hyper-methylation. In Case 1, a 71-year-old man had a pathogenic germline variant in MLH1 and underwent tumor resection. No relapse has been reported thus far. In Case 2, a 43-year-old man underwent genetic testing that also showed a pathogenic germline variant in MLH1. Since these two cases had MLH variants, we suspect a possible association between thymic cancer with Lynch syndrome and germline pathogenic variants in MLH1.

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