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2 Resultados da pesquisa.

dbGaP phs000563 Pilocytic Astrocytoma in NF1 - pht003084.v1.p1

- 04/11/2022 - 5 Formulários, 1 Grupo de itens, 4 Elementos de dados, 1 Idioma

Grupo de itens: pht003084

Principal Investigator: David Gutmann, MD, PhD, Washington University School of Medicine, St. Louis, MO, USA MeSH: Pilocytic Astrocytoma,Glioma,Neurofibromatosis Type 1 https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000563 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.

pht003082.v1.p1

1 Grupo de itens 3 Elementos de dados

pht003083.v1.p1

1 Grupo de itens 3 Elementos de dados

pht003085.v1.p1

1 Grupo de itens 4 Elementos de dados

Eligibility

1 Grupo de itens 1 Elemento de dados

dbGaP phs001054 Genomic Characterization of Pediatric Low-Grade Gliomas - Eligibility

- 23/06/2023 - 5 Formulários, 1 Grupo de itens, 1 Elemento de dados, 1 Idioma

Grupo de itens: IG.elig

Principal Investigator: Adam Resnick, PhD, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, PA, USA MeSH: Glioma,Astrocytoma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001054 Pediatric low-grade gliomas (PLGGs) are the most common pediatric brain-tumor, with more than ten histologic subtypes recognized by the World Health Organization. We performed a genomic analysis of 230 PLGGs of which 73 had whole genome/RNA sequencing performed and show that MYB-QKI fusions define the seizure associated tumor, Angiocentric Glioma (AG). MYB-QKI fusions present in AGs contribute to tumorigenesis through three mechanisms: MYB activation by truncation, enhancer translocation driving aberrant MYB-QKI expression, and hemizygous loss of QKI, a tumor suppressor gene. Such interplay between three oncogenic mechanisms has diagnostic and therapeutic implications in AGs, and illustrates the functional complexity associated with rearrangements in cancer.

pht005276.v1.p1

1 Grupo de itens 2 Elementos de dados

pht005277.v1.p1

1 Grupo de itens 3 Elementos de dados

pht005278.v1.p1

1 Grupo de itens 2 Elementos de dados

pht005279.v1.p1

1 Grupo de itens 6 Elementos de dados

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