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

被引：3

作者：

Shih, Andrew J. ^{[1
]}

Jun, Tomi ^{[2
]}

Skol, Andrew D. ^{[3
,13
]}

Bao, Riyue ^{[4
,5
]}

Huang, Lei ^{[6
,14
]}

Vora, Sapana ^{[3
]}

McNerney, Megan E. ^{[3
,7
]}

Hungate, Eric A. ^{[3
]}

Le Beau, Michelle M. ^{[8
]}

Larson, Richard A. ^{[8
]}

Elliott, Aaron ^{[9
]}

Lu, Hsiao-Mei ^{[9
]}

Huether, Robert ^{[9
,15
]}

Hernandez, Felicia ^{[9
]}

Stolzel, Friedrich ^{[10
]}

Allan, James M. ^{[11
]}

Onel, Kenan ^{[2
,12
]}

机构：

[1] Northwell Hlth, Feinstein Inst Med Res, Manhasset, NY USA

[2] Sema4, Stamford, CT USA

[3] Univ Chicago, Dept Pediat, Chicago, IL 60637 USA

[4] Univ Pittsburgh, Dept Med, Pittsburgh, PA USA

[5] UPMC Hillman Canc Ctr, Pittsburgh, PA USA

[6] Univ Chicago, Ctr Res Informat, Chicago, IL 60637 USA

[7] Univ Chicago, Dept Pathol, 5841 S Maryland Ave, Chicago, IL 60637 USA

[8] Univ Chicago, Dept Med, 5841 S Maryland Ave, Chicago, IL 60637 USA

[9] Ambry Genet, Aliso Viejo, CA USA

[10] Tech Univ Dresden, Univ Hosp Carl Gustav Carus Dresden, Dept Internal Med 1, Dresden, Germany

[11] Newcastle Univ, Northern Inst Canc Res, Newcastle Upon Tyne, Tyne & Wear, England

[12] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA

[13] Ann & Robert H Lurie Childrens Hosp Chicago, Ctr Genom, Chicago, IL 60611 USA

[14] Kite, Santa Monica, CA USA

[15] Tempus Labs, Chicago, IL USA

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2023年 / 200卷 / 04期

基金：

美国国家卫生研究院;

关键词：

cancer predisposition; germline; leukaemia; therapy-related myeloid neoplasm; whole-exome sequencing; MEDICAL GENETICS; AMERICAN-COLLEGE; SUSCEPTIBILITY; GENOMICS; ORIGIN; GENES;

D O I：

10.1111/bjh.18543

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：489 / 493

页数：5

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