AUTHOR=Chin Hui-Lin , Lam Joyce Ching Mei , Christopher Dheepa , Michelle Poon Limei , Junrong Benedict Yan TITLE=Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience JOURNAL=Frontiers in Oncology VOLUME=13 YEAR=2023 URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2023.1182639 DOI=10.3389/fonc.2023.1182639 ISSN=2234-943X ABSTRACT=
Genomic profiling to identify myeloid-malignancy-related gene mutations is routinely performed for patients with suspected or definite myeloid malignancies. The most common specimen types in our experience are peripheral blood and bone marrow aspirates. Although primarily intended to identify somatic mutations, not infrequently, potentially clinically significant germline variants are also identified. Confirmation of the germline status of these variants is typically performed by hair follicle or skin fibroblast testing. If the germline variant is classified as a pathogenic or likely pathogenic variant and occurs in a gene known to be associated with a disease relevant to the patient’s phenotype (for example, the identification of a