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

Santhosh A. Upadhyaya; Rose B. Mcgee; Breelyn A Wilky; Alberto Broniscer

doi:10.1002/pbc.27030

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

Santhosh A. Upadhyaya, Rose B. Mcgee, Breelyn A Wilky, Alberto Broniscer

Medicine

Research output: Contribution to journal › Article

Abstract

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.

Original language	English (US)
Journal	Pediatric Blood and Cancer
DOIs	https://doi.org/10.1002/pbc.27030
State	Accepted/In press - Jan 1 2018

Fingerprint

Rhabdoid Tumor

Nerve Sheath Neoplasms

Germ-Line Mutation

Genetic Counseling

Genes

Neoplasms

Keywords

Malignant progression
NRAS mutation
Peripheral nerve sheath tumor
Rhabdoid tumor predisposition syndrome

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Hematology
Oncology

Cite this

Upadhyaya, S. A., Mcgee, R. B., Wilky, B. A., & Broniscer, A. (Accepted/In press). Malignant progression of a peripheral nerve sheath tumor in the setting of rhabdoid tumor predisposition syndrome. Pediatric Blood and Cancer. https://doi.org/10.1002/pbc.27030

Malignant progression of a peripheral nerve sheath tumor in the setting of rhabdoid tumor predisposition syndrome. / Upadhyaya, Santhosh A.; Mcgee, Rose B.; Wilky, Breelyn A; Broniscer, Alberto.

In: Pediatric Blood and Cancer, 01.01.2018.

Research output: Contribution to journal › Article

Upadhyaya, SA, Mcgee, RB, Wilky, BA & Broniscer, A 2018, 'Malignant progression of a peripheral nerve sheath tumor in the setting of rhabdoid tumor predisposition syndrome', Pediatric Blood and Cancer. https://doi.org/10.1002/pbc.27030

Upadhyaya SA, Mcgee RB, Wilky BA, Broniscer A. Malignant progression of a peripheral nerve sheath tumor in the setting of rhabdoid tumor predisposition syndrome. Pediatric Blood and Cancer. 2018 Jan 1. https://doi.org/10.1002/pbc.27030

Upadhyaya, Santhosh A. ; Mcgee, Rose B. ; Wilky, Breelyn A ; Broniscer, Alberto. / Malignant progression of a peripheral nerve sheath tumor in the setting of rhabdoid tumor predisposition syndrome. In: Pediatric Blood and Cancer. 2018.

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10.1002/pbc.27030