Toggle Main Menu Toggle Search

Open Access padlockePrints

The Newcastle University research output collection, currently available on ePrints, will shortly be moving to a new open repository platform, Figshare. To prepare for the data migration we have paused adding new content to ePrints, and will resume once the new repository is launched. During this time you will continue to have access to ePrints (but no new content will appear). We will share updates here when available.

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

Lookup NU author(s): Professor James AllanORCiD

Downloads

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

Abstract

© 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

URL: https://doi.org/10.1111/bjh.18543

DOI: 10.1111/bjh.18543

Altmetrics

Altmetrics provided by Altmetric

Share