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Lookup NU author(s): Professor James Allan
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© 2022 British Society for Haematology and John Wiley & Sons Ltd.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.
Author(s): Shih AJ, Jun T, Skol AD, Bao R, Huang L, Vora S, McNerney ME, Hungate EA, Le Beau MM, Larson RA, Elliott A, Lu H-M, Huether R, Hernandez F, Stolzel F, Allan JM, Onel K
Publication type: Article
Publication status: Published
Journal: British Journal of Haematology
Year: 2023
Volume: 200
Issue: 4
Pages: 489-493
Print publication date: 01/02/2023
Online publication date: 09/11/2022
Acceptance date: 19/10/2022
ISSN (print): 0007-1048
ISSN (electronic): 1365-2141
Publisher: John Wiley and Sons Inc
URL: https://doi.org/10.1111/bjh.18543
DOI: 10.1111/bjh.18543
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