Toggle Main Menu Toggle Search

Open Access padlockePrints

Inherited cancer predisposing mutations in patients with therapy-related myeloid neoplasms

Lookup NU author(s): Professor James Allan


Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


© 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.

Publication metadata

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


DOI: 10.1111/bjh.18543


Altmetrics provided by Altmetric