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Intern Med ; 62(4): 649-653, 2023 Feb 15.
Article in English | MEDLINE | ID: mdl-35908972

ABSTRACT

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.


Subject(s)
Colorectal Neoplasms, Hereditary Nonpolyposis , Thymus Neoplasms , Male , Humans , Aged , Adult , Colorectal Neoplasms, Hereditary Nonpolyposis/complications , Colorectal Neoplasms, Hereditary Nonpolyposis/genetics , DNA Methylation/genetics , MutL Protein Homolog 1/genetics , Neoplasm Recurrence, Local/genetics , Germ-Line Mutation , Thymus Neoplasms/complications , Thymus Neoplasms/genetics , Thymus Neoplasms/surgery
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