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

Andrew J ShihTomi JunAndrew D SkolRiyue BaoLei HuangSapana VoraMegan E McNerneyEric A HungateMichelle M Le BeauRichard A LarsonAaron ElliottHsiao-Mei LuRobert HuetherFelicia HernandezFriedrich StölzelJames M AllanKenan Onel
Published in: British journal of haematology (2022)
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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