期刊
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
卷 35, 期 6, 页码 933-935出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/PAS.0b013e3182196a39
关键词
atypical teratoid/rhabdoid tumor; SMARCA4; BRG1; SMARCB1; INI1
资金
- IZKF Munster [HA3/016/11]
- KinderKrebsInitiative (KKI) Buchholz/Holm-Seppensen
- Fordergemeinschaft Kinderkrebszentrum Hamburg e.V.
Atypical teratoid/rhabdoid tumors (AT/RTs) are highly aggressive brain tumors of early childhood poorly responding to therapy. The majority of cases show inactivation of SMARCB1 (INI1, hSNF5, BAF47), a core member of the adenosine triphosphate (ATP)-dependent SWI/SNF chromatin-remodeling complex. We here report the case of a supratentorial AT/RT in a 9-month-old boy, which showed retained SMARCB1 staining on immunohistochemistry and lacked genetic alterations of SMARCB1. Instead, the tumor showed loss of protein expression of another SWI/SNF chromatin-remodeling complex member, the ATPase subunit SMARCA4 (BRG1) due to a homozygous SMARCA4 mutation [c.2032C > T (p.Q678X)]. Our findings highlight the role of SMARCA4 in the pathogenesis of SMARCB1-positive AT/RT and the usefulness of antibodies directed against SMARCA4 in this diagnostic setting.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据