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Article

Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22.

American journal of medical genetics. Part A - 1 Jan 2017

Byers Heather M, Adam Margaret P, LaCroix Amy, Leary Sarah E S, Cole Bonnie, Dobyns William B, Mefford Heather C

Abstract excerpt

Atypical teratoid rhabdoid tumors of the central nervous system are rare, highly malignant, embryonal tumors most often occurring in children under age 3 years. Most are due to a somatic change in tumor suppressor gene SMARCB1 followed by a second-hit, typically loss of heterozygosity, best detected on immunohistochemical staining. Despite the noteworthy genetic homogeneity of atypical teratoid rhabdoid tumors,...

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Share to Chromosome Disorders
Share to Chromosomes, Human, Pair 22

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Comparative Genomic Hybridization

Share to Rhabdoid Tumor

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Source

Open in PubMed Open full text

Identifiers

PMID: 27734605
DOI: 10.1002/ajmg.a.37993
PMCID: PMC5999866

Genes

SMARCB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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