ArticleFrontiers in immunology2025
Lung adenocarcinoma and colorectal cancer as double primary malignancies reveal lynch syndrome: a case report of germline MLH1 mutation with response to immunotherapy and familial aggregation.
Article in Frontiers in immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer, is a genetic condition that increases the risk of developing colorectal cancer (CRC) and other cancers due to defective DNA mismatch repair (dMMR). This article reports a case of a patient who developed lung adenocarcinoma followed by CRC. The detection of dMMR by immunohistochemistry in both the metastatic lesion and CRC led to retrospective testing, which revealed a concomitant loss of MLH1 and PMS2 in the primary lung cancer. Germline testing subsequently confirmed a diagnosis of LS associated with an MLH1 mutation, with significant familial clustering observed. The patient responded effectively to anti-PD-1 immunotherapy. This case highlights that lung adenocarcinoma can be a manifestation of LS and underscores the critical importance of retrospective MMR testing in establishing the diagnosis. Furthermore, it demonstrates the efficacy of immune checkpoint inhibitions in advanced dMMR tumors.
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