Malignant progression of a peripheral nerve sheath tumor in the setting of rhabdoid tumor predisposition syndrome

被引：4

作者：

Upadhyaya, Santhosh A. ^{[1
]}

McGee, Rose B. ^{[2
]}

Wilky, Breelyn A. ^{[3
]}

Broniscer, Alberto ^{[4
]}

机构：

[1] St Jude Childrens Res Hosp, Dept Oncol, MS 260,262 Danny Thomas Pl, Memphis, TN 38105 USA

[2] St Jude Childrens Res Hosp, Dept Oncol, Div Canc Predisposit, Memphis, TN 38105 USA

[3] Univ Miami, Miller Sch Med, Dept Oncol, Miami, FL 33136 USA

[4] Childrens Hosp Pittsburgh, Dept Pediat, Pittsburgh, PA 15213 USA

来源：

PEDIATRIC BLOOD & CANCER | 2018年 / 65卷 / 07期

关键词：

malignant progression; NRAS mutation; peripheral nerve sheath tumor; rhabdoid tumor predisposition syndrome; FAMILIAL SCHWANNOMATOSIS; INI1; EXPRESSION; GERM-LINE; MUTATIONS; SMARCB1; PATIENT; GENE; IMMUNOHISTOCHEMISTRY; HSNF5/INI1; CARCINOMA;

D O I：

10.1002/pbc.27030

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Malignant progression of a benign or low-grade tumor in individuals with germline alteration of SMARCB1 gene is not well characterized. In a family in which two carrier children had germline SMARCB1 mutations and atypical teratoid rhabdoid tumor, we report malignant progression of a nerve sheath tumor over a 7-year period in an affected adult family member. Prompt identification of the germline SMARCB1 alteration and the resultant rhabdoid tumor predisposition syndrome can help guide genetic counseling and surveillance in affected family members.

引用

页数：5

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