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CASE REPORT article

Front. Oncol.
Sec. Gastrointestinal Cancers: Hepato Pancreatic Biliary Cancers
Volume 14 - 2024 | doi: 10.3389/fonc.2024.1414665

MSH6 germline mutations leading to Lynch syndromeassociated cholangiocarcinoma: A case report

Provisionally accepted
Zheng Zhang Zheng Zhang Subo Ma Subo Ma *Shixing Li Shixing Li Zhengfu Chen Zhengfu Chen *Runda Song Runda Song *Zhanpeng Wang Zhanpeng Wang *
  • China-Japan Union Hospital, Jilin University, Changchun, Jilin Province, China

The final, formatted version of the article will be published soon.

    Lynch syndrome, a hereditary cancer susceptibility syndrome, arises from pathogenic mutations in mismatch repair genes. This syndrome is strongly linked to colorectal and endometrial cancers, as well as an elevated risk for other cancers such as gastric, ovarian, renal pelvis/ureter, and prostate. Notably, Lynch syndrome is rarely associated with cholangiocarcinoma (CCA). In this case study, we present a unique instance of Lynch syndrome-related CCA resulting from a singular MSH6 mutation. Notably, our findings reveal discrepancies between immunohistochemistry (IHC) and microsatellite stability results compared to genetic testing outcomes. This discrepancy underscores the limitations of solely relying on IHC analysis and microsatellite stability testing for the detection of hereditary tumors, emphasizing the crucial role of genetic testing in such cases. This insight enhances our comprehension of the mechanisms involved in cancer development and underscores the significance of thorough analysis integrating immunohistochemistry and genetic testing for diagnosing Lynch syndrome-related cancers.

    Keywords: Lynch Syndrome, Cholangiocarcinoma, Mismatch repair genes, Immunohistochemistry, MSH6 gene

    Received: 09 Apr 2024; Accepted: 22 Jul 2024.

    Copyright: © 2024 Zhang, Ma, Li, Chen, Song and Wang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Subo Ma, China-Japan Union Hospital, Jilin University, Changchun, 130033, Jilin Province, China
    Zhengfu Chen, China-Japan Union Hospital, Jilin University, Changchun, 130033, Jilin Province, China
    Runda Song, China-Japan Union Hospital, Jilin University, Changchun, 130033, Jilin Province, China
    Zhanpeng Wang, China-Japan Union Hospital, Jilin University, Changchun, 130033, Jilin Province, China

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