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Session: ePoster: Colon and Colorectal Cancer 1 (Sun8)

EP253 - Collaborative Approach to Managing Lynch Syndrome Across Multiple Departments in our hospital

Sunday, May 11, 2025
8:21 AM – 8:26 AM PT
Location: Monitor 4, Sails Pavilion, Upper Level

    ePoster Presenter(s)

  • Shintaro Akabane

    medical doctor
    Department of Gastroenterological and Transplant Surgery, Hiroshima University
    Hiroshima, Hiroshima, Japan

    All of the relevant financial relationships listed below have been mitigated.
    This individual has no financial relationships with ineligible companies.

    • Author(s)

  • TH

    Takao Hinoi, n/a

    professor
    Department of Clinical and Molecular Genetics, Hiroshima University Hospital
    Hiroshima, Hiroshima, Japan

    Disclosure information not submitted.

  • HN

    Hiroaki Niitsu, n/a

    Medical doctor
    Department of Clinical and Molecular Genetics, Hiroshima University Hospital
    Hiroshima, Hiroshima, Japan

    Disclosure information not submitted.

  • AT

    Asuka Toshida, n/a

    Genetic counselor
    Department of Clinical and Molecular Genetics, Hiroshima University Hospital
    Hiroshima, Hiroshima, Japan

    Disclosure information not submitted.

  • HN

    Hikaru Nakahara, n/a

    Bioinformatician
    Department of Clinical and Molecular Genetics, Hiroshima University Hospital
    Hiroshima, Hiroshima, Japan

    Disclosure information not submitted.

  • TM

    Tetsuya Mochizuki, n/a

    Medical doctor
    Department of Gastroenterological and Transplant Surgery, Hiroshima University
    Hiroshima, Hiroshima, Japan

    Disclosure information not submitted.

  • TY

    Takuya Yano, n/a

    Assistant professor
    Department of Gastroenterological and Transplant Surgery, Hiroshima University
    Hiroshima, Hiroshima, Japan

    Disclosure information not submitted.

  • HO

    Hiroshi Okuda, n/a

    Associate Professor
    Department of Gastroenterological and Transplant Surgery, Hiroshima University
    Hiroshima, Hiroshima, Japan

    Disclosure information not submitted.

  • MS

    Manabu Shimomura, n/a

    Assistant professor
    Department of Gastroenterological and Transplant Surgery, Hiroshima University
    Hiroshima, Hiroshima, Japan

    Disclosure information not submitted.

  • HO

    Hideki Ohdan, n/a

    Professor
    Department of Gastroenterological and Transplant Surgery, Hiroshima University
    Hiroshima, Hiroshima, Japan

    Disclosure information not submitted.

All of the relevant financial relationships listed below have been mitigated.
Shintaro Akabane: This individual has no financial relationships with ineligible companies.
Image or Table (Do Not add text here):

Purpose/Background: Lynch syndrome (LS) is an inherited disease caused by germline pathogenic variants in mismatch repair genes resulting in deficient DNA mismatch repair (dMMR) in various types of cancers. LS is determined by screening with immunohistochemistry for mismatch repair proteins (MMR-IHC), microsatellite instability (MSI) testing, and comprehensive genomic profiling (CGP) testing. Especially in colorectal cancer (CRC), MMR-IHC is recommended for all surgically resected cases as universal tumor screening (UTS). In other types of cancers, we performed LS screening in cases in which hereditary cancer syndrome was highly suspected by a family history of cancers. In addition, LS is suspected by CGP tests in which presumed germline pathogenic variants (PGPV) are detected. Here, we describe our strategy for LS screening in various types of cancers.

Methods/Interventions: We retrospectively investigated 935 CRCs in which UTS was performed in Hiroshima University Hospital between 2013 and 2023. We also studied 136 gynecologic cancers in which MSI tests were performed, and 115 upper urothelial cancers in which MMR-IHC were done. Furthermore, the frequency of PGPV and LS detected in 1,569 cases of CGP tests were studied.

Results/Outcomes: In CRCs, 82 (8.8%) present with MSI-high, of which 6 cases (0.6%) were diagnosed as LS. Ten gynecological (7.4%) and fifteen upper urothelial (12.7%) cancers were found to be dMMR by MSI testing and MMR-IHC, respectively. Genetic counseling was provided in five dMMR gynecological cancers, and three were determined as LS. In contrast, genetic counseling was provided in a case of upper urothelial cancer, but the genetic test revealed negative for LS. PGPV in MMR genes were found in 21 cases out of 1,569 CGP tests, of which seven (0.5%) were determined as LS.

Conclusion/Discussion: The ability to detect dMMR CRCs and LS by UTS in our institute was comparable to previous literature. dMMR were also determined in approximately 10% of gynecological and upper urothelial cancers which are known as LS-associated cancers, suggesting the usefulness of UTS in these cancers. We also determined the PGPV of MMR genes and LS in some CGP tests, which are important to be aware of LS. Collectively, we need to improve our LS screening system through the expansion of UTS in LS-associated cancers other than CRCs and the widespread of CGP testing.