Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant

被引：9

作者：

Ji, Jianling ^{[1
,2
,4
]}

Navid, Fariba ^{[3
,5
]}

Hiemenz, Mathew C. ^{[1
,2
,4
]}

Kaneko, Maki ^{[1
,2
]}

Zhou, Shengmei ^{[1
,2
,4
]}

Saitta, Sulagna C. ^{[1
,2
,4
]}

Biegel, Jaclyn A. ^{[1
,2
,4
]}

机构：

[1] Childrens Hosp Los Angeles, Dept Pathol, 4650 Sunset Blvd MS 173, Los Angeles, CA 90027 USA

[2] Childrens Hosp Los Angeles, Lab Med, 4650 Sunset Blvd MS 173, Los Angeles, CA 90027 USA

[3] Childrens Hosp Los Angeles, Hematol Oncol & Blood & Marrow Transplantat, Los Angeles, CA 90027 USA

[4] Univ Southern Calif, Keck Sch Med, Dept Pathol, Los Angeles, CA 90007 USA

[5] Univ Southern Calif, Keck Sch Med, Dept Pediat, Los Angeles, CA USA

来源：

CANCER GENETICS | 2019年 / 231卷

关键词：

CBL; Cancer predisposition; RASopathy; Embryonal rhabdomyosarcoma; PATERNAL UNIPARENTAL DISOMY; NOONAN SYNDROME; C-CBL; MUTATIONS; CHILDREN; HETEROZYGOSITY; SPECTRUM; SOS1; GENE;

D O I：

10.1016/j.cancergen.2018.12.006

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Germline pathogenic variants in CBL are associated with an autosomal dominant RASopathy and an increased risk for malignancies, particularly juvenile myelomonocytic leukemia. Herein, we describe a patient with clinical features of a Noonan-spectrum disorder who developed embryonal rhabdomyosarcoma of the bladder at age two years. Tumor analysis using the OncoKids (R) cancer panel revealed a CBL pathogenic variant: NM_005188.3:c.1100A>C (p.Gln367Pro). Sanger sequencing of peripheral blood DNA confirmed a de novo heterozygous germline variant. This is the first report of embryonal rhabdomyosarcoma in association with a germline CBL pathogenic variant, further broadening the CBL cancer predisposition spectrum.

引用

页码：62 / 66

页数：5

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