Inherited Cancer Predisposing Mutations in Patients with Therapy-related Myeloid Neoplasms

Overview

Journal Br J Haematol

Specialty Hematology

Date 2022 Nov 9

PMID 36349721

Authors

Andrew J Shih

Tomi Jun

Andrew D Skol

Riyue Bao

Lei Huang

Sapana Vora

Megan E McNerney

Eric A Hungate

Michelle M Le Beau

Richard A Larson

Aaron Elliott

Hsiao-Mei Lu

Robert Huether

Felicia Hernandez

Friedrich Stolzel

James M Allan

Kenan Onel

Affiliations

Soon will be listed here.

Abstract

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.

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