BCOR-CCNB3 fusion-positive clear cell sarcoma of the kidney

被引：12

作者：

Han, Hyojeong ^{[1
]}

Bertrand, Kelsey C. ^{[1
]}

Patel, Kalyani R. ^{[2
]}

Fisher, Kevin E. ^{[2
]}

Roy, Angshumoy ^{[1
,2
]}

Muscal, Jodi A. ^{[1
]}

Venkatramani, Rajkumar ^{[1
]}

机构：

[1] Texas Childrens Hosp, Baylor Coll Med, Sect Hematol Oncol, Dept Pediat, 1102 Bates Ave,Suite 0430-05, Houston, TX 77030 USA

[2] Texas Childrens Hosp, Baylor Coll Med, Dept Pathol & Immunol, Houston, TX 77030 USA

来源：

PEDIATRIC BLOOD & CANCER | 2020年 / 67卷 / 04期

关键词：

pediatric oncology; renal tumors; solid tumors; INTERNAL TANDEM DUPLICATIONS; BCOR;

D O I：

10.1002/pbc.28151

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Clear cell sarcoma of the kidney (CCSK) is the second most common malignant pediatric renal tumor. Two of the recurrent somatic alterations reported in CCSK are BCL-6 corepressor (BCOR) internal tandem duplication (ITD) and YWHAE-NUTM2B/E gene fusion. A minority of patients with CCSKs have other rare somatic alterations. We report two patients with CCSK showing BCOR-CCNB3 (where CCNB3 is cyclin B3) fusion, who had similar clinical presentation of a large renal mass with tumor thrombus extending through the inferior vena cava into the right atrium and a favorable response to chemotherapy. We recommend BCOR-CCNB3 fusion testing for all patients with CCSK who lack BCOR-ITD or YWHAE-NUTM2B/E gene fusions.

引用

页数：4

共 13 条

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