Inherited cancer predisposing mutations in patients with therapy‐related myeloid neoplasms. (9th November 2022)

• Record Type: Journal Article
• 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
• Is Part Of: British journal of haematology. Volume 200:Number 4(2023)
• Page Start: 489
• Page End: 493
• Publication Date: 2022-11-09
• Subjects: cancer predisposition -- germline -- leukaemia -- therapy‐related myeloid neoplasm -- whole‐exome sequencing; Hematology -- Periodicals; Blood -- Diseases -- Periodicals; 616.15
• DOI: 10.1111/bjh.18543
• Languages: English
• ISSNs: 0007-1048

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.