Challenges Associated With the Identification of Germline Variants on Myeloid Malignancy Genomic Profiling—A Singaporean Experience

    October 2023 in “ Frontiers in Oncology ”
    Hui‐Lin Chin, Joyce Ching Mei Lam, Dheepa Christopher, Poon Limei Michelle, Benedict Yan Junrong
    TLDR Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
    The document discusses the challenges in identifying germline variants during genomic profiling of myeloid malignancies, based on a Singaporean experience. It highlights the importance of distinguishing between somatic and germline variants for treatment planning, family health surveillance, and donor selection for bone marrow transplants. The study includes three case studies: a child with juvenile myelomonocytic leukemia and a germline PTPN11 variant, a 33-year-old male with persistent eosinophilia and a germline CBL variant, and a 38-year-old male with aplastic anemia and a germline DDX41 variant. The document emphasizes the need for collaboration between clinicians and geneticists, genetic counseling, and pre-test counseling and consent for somatic gene panels. It also suggests novel computational methods for differentiating germline from somatic variants as cost-effective alternatives.
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