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 › peer-review

1 Scopus citations

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)
Article number	e27030
Journal	Pediatric Blood and Cancer
Volume	65
Issue number	7
DOIs	https://doi.org/10.1002/pbc.27030
State	Published - Jul 2018

Keywords

NRAS mutation
malignant progression
peripheral nerve sheath tumor
rhabdoid tumor predisposition syndrome

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Hematology
Oncology

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10.1002/pbc.27030

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title = "Malignant progression of a peripheral nerve sheath tumor in the setting of rhabdoid tumor predisposition syndrome",

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.",

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AU - Upadhyaya, Santhosh A.

AU - McGee, Rose B.

AU - Wilky, Breelyn A.

AU - Broniscer, Alberto

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AB - 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.

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KW - peripheral nerve sheath tumor

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