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- Title
Inherited cancer predisposing mutations in patients with therapy‐related myeloid neoplasms.
- Authors
Shih, Andrew J.; Jun, Tomi; Skol, Andrew D.; Bao, Riyue; Huang, Lei; Vora, Sapana; McNerney, Megan E.; Hungate, Eric A.; Le Beau, Michelle M.; Larson, Richard A.; Elliott, Aaron; Lu, Hsiao‐Mei; Huether, Robert; Hernandez, Felicia; Stölzel, Friedrich; Allan, James M.; Onel, Kenan
- Abstract
Summary: Some patients with therapy‐related myeloid neoplasms (t‐MN) may have unsuspected inherited cancer predisposition syndrome (CPS). We propose a set of clinical criteria to identify t‐MN patients with high risk of CPS (HR‐CPS). Among 225 t‐MN patients with an antecedent non‐myeloid malignancy, our clinical criteria identified 52 (23%) HR‐CPS patients. Germline whole‐exome sequencing identified pathogenic or likely pathogenic variants in 10 of 27 HR‐CPS patients compared to 0 of 9 low‐risk CPS patients (37% vs. 0%, p = 0.04). These simple clinical criteria identify t‐MN patients most likely to benefit from genetic testing for inherited CPS.
- Subjects
TUMORS; GENETIC testing; GERM cells
- Publication
British Journal of Haematology, 2023, Vol 200, Issue 4, p489
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/bjh.18543