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Pilocytic Astrocytoma in NF1

ABSTRACT:

Neurofibromatosis type 1 (NF1) inherited cancer predisposition syndrome is one of the most common autosomal dominant tumor predisposition syndromes in which affected individuals develop brain tumors. These low-grade glial neoplasms (pilocytic astrocytomas) typically arise in children younger than 7 years of age and are hypothesized to result from a combination of germline and acquired somatic NF1 tumor suppressor gene mutations. In this study, whole genome sequence analysis was performed on three NF1-associated pilocytic astrocytoma tumors (NF1-PA) and matched normal blood samples to establish the genomic landscape of NF1-PA. These data support the existence of multiple distinct mechanisms (mutation, LOH, and methylation) underlying somatic NF1 inactivation in NF1-PA tumors.

PROVIDER: phs000563 | dbGaP |

SECONDARY ACCESSION(S): PRJNA178529PRJNA178528

REPOSITORIES: dbGaP

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			Action	DRS
	GapExchange_phs000563.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs000563.NF1_PilocyticAstrocytoma.v1.p1.MULTI.pdf	Pdf
	manifest_phs000563.NF1_PilocyticAstrocytoma.v1.p1.c3.DS-BST-MDS.pdf	Pdf
	manifest_phs000563.NF1_PilocyticAstrocytoma.v1.p1.c3.DS-BST.pdf	Pdf

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Project description:Neurofibromatosis type 1 (NF1) inherited cancer predisposition syndrome is one of the most common autosomal dominant tumor predisposition syndromes in which affected individuals develop brain tumors. These low-grade glial neoplasms (pilocytic astrocytomas) typically arise in children younger than 7 years of age and are hypothesized to result from a combination of germline and acquired somatic NF1 tumor suppressor gene mutations. In this study, whole genome sequence analysis was performed on three NF1-associated pilocytic astrocytoma tumors (NF1-PA) and matched normal blood samples to establish the genomic landscape of NF1-PA. These data support the existence of multiple distinct mechanisms (mutation, LOH, and methylation) underlying somatic NF1 inactivation in NF1-PA tumors.

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