Modèles de données sélectionnés

Vous devez être connecté pour sélectionner plusieurs modèles de données, les télécharger ou les analyser.

3 Résultats de recherche.
Pertinence Commentaire Plus récent Moins récent

dbGaP phs000614 Genomic Analysis of Pediatric Low Grade Gliomas - Eligibility

- 04/12/2022 - 6 Formulaires, 1 Groupe Item, 1 Élément de données, 1 Langue
Groupe Item: IG.elig
Principal Investigator: Keith L. Ligon, MD, PhD, Dana-Farber Cancer Institute, Boston Children's Hospital, MA, USA MeSH: Astrocytoma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000614 Pediatric low-grade gliomas (PLGGs) are among the most common solid tumors in children but, apart from mutations or duplications in the BRAF kinase in specific subclasses, few genetic driver events are known. Diffuse PLGGs compose a set of uncommon subtypes that exhibit invasive growth and are therefore especially challenging clinically. These tumors are particularly poorly understood. We performed high-resolution copy-number analysis of 44 diffuse PLGGs to identify recurrent alterations. Diffuse PLGGs exhibited fewer such alterations than adult low-grade gliomas, but we identified several significantly recurrent events. The most significant event, 8q13.1 gains, was observed in 28% of diffuse astrocytoma WHO grade II (DA2) and resulted in partial duplication of the transcription factor MYBL1 with truncation of its C-terminal negative-regulatory domain. A similar recurrent deletion-truncation breakpoint was identified in two angiocentric gliomas in the related gene MYB on 6q23.3. Whole genome sequencing of a MYBL1-rearranged diffuse astrocytoma grade II demonstrated MYBL1 tandem duplication and few other events. Two truncated MYBL1 transcripts identified in this tumor induced anchorage-independent growth when expressed in 3T3 cells and tumor formation in nude mice. Truncated transcripts were also expressed in two additional tumors with MYBL1 partial duplication. Our results define clinically relevant molecular subclasses of diffuse PLGGs and highlight a potential role for the MYB family in the biology of low-grade gliomas. "Reprinted from www.pnas.org/cgi/doi/10.1073/pnas.1300252110 with permission from PNAS."

pht003287.v1.p1

1 Groupe Item 2 Eléments de données

pht003288.v1.p1

1 Groupe Item 3 Eléments de données

pht003289.v1.p1

1 Groupe Item 2 Eléments de données

pht003290.v1.p1

1 Groupe Item 3 Eléments de données

pht003291.v1.p1

1 Groupe Item 7 Eléments de données

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

- 23/06/2023 - 5 Formulaires, 1 Groupe Item, 1 Élément de données, 1 Langue
Groupe Item: 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 Groupe Item 2 Eléments de données

pht005277.v1.p1

1 Groupe Item 3 Eléments de données

pht005278.v1.p1

1 Groupe Item 2 Eléments de données

pht005279.v1.p1

1 Groupe Item 6 Eléments de données

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

- 04/11/2022 - 5 Formulaires, 1 Groupe Item, 4 Eléments de données, 1 Langue
Groupe Item: 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 Groupe Item 3 Eléments de données

pht003083.v1.p1

1 Groupe Item 3 Eléments de données

pht003085.v1.p1

1 Groupe Item 4 Eléments de données

Eligibility

1 Groupe Item 1 Élément de données

Aide

Do you need help on how to use the search function? Please watch the corresponding tutorial video for more details and learn how to use the search function most efficiently.

Watch Tutorial