Biallelic Somatic SMARCA4 Mutations in Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT)

被引：16

作者：

Bailey, Shivani ^{[1
]}

Murray, Matthew J. ^{[1
]}

Witkowski, Leora ^{[2
]}

Hook, Elizabeth ^{[3
]}

Hasselblatt, Martin ^{[4
]}

Crawford, Robin ^{[5
]}

Foulkes, William D. ^{[2
,6
,7
,8
]}

Tischkowitz, Marc ^{[9
]}

Nicholson, James C. ^{[1
]}

机构：

[1] Addenbrookes Hosp, Dept Paediat Haematol & Oncol, Cambridge CB2 0QQ, England

[2] McGill Univ, Dept Oncol & Human Genet, Program Canc Genet, Montreal, PQ, Canada

[3] Addenbrookes Hosp, Dept Histopathol, Cambridge CB2 0QQ, England

[4] Univ Hosp Munster, Inst Neuropathol, Munster, Germany

[5] Addenbrookes Hosp, Dept Gynaecol, Cambridge CB2 0QQ, England

[6] McGill Univ, Dept Med Genet, Lady Davis Inst, Montreal, PQ, Canada

[7] McGill Univ, Jewish Gen Hosp, Segal Canc Ctr, Montreal, PQ H3T 1E2, Canada

[8] McGill Univ, Dept Human Genet, Montreal, PQ, Canada

[9] Univ Cambridge, Dept Med Genet, Cambridge CB2 1TN, England

来源：

PEDIATRIC BLOOD & CANCER | 2015年 / 62卷 / 04期

基金：

英国医学研究理事会;

关键词：

BRG1; INI1; malignant rhabdoid tumor of the ovary; SCCOHT; SMARCA4; SMARCB1; RHABDOID TUMOR;

D O I：

10.1002/pbc.25279

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare, aggressive tumor that primarily affects young women. SCCOHT has recently been identified as a monogenic disorder caused by germline and/or somatic SMARCA4 mutations. We describe a 15-year-old Caucasian female with a SCCOHT harboring a previously unreported somatic mutation in the SMARCA4 gene (c.1757delA; p.K586.fs) with loss of heterozygosity. No germline mutation was identified. Subsequent immunohistochemical staining confirmed loss of SMARCA4 protein. These molecular findings will aid with SCCOHT diagnosis through immunohistochemical staining for SMARCA4 and in the future may have implications for the management of this disease. Pediatr Blood Cancer 2015;62:728-730. (c) 2014 Wiley Periodicals, Inc.

引用

页码：728 / 730

页数：3

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