Germline loss-of-function variant in the E3 ubiquitin ligase TRAF2 in a young adult patient with medulloblastoma: a case report

Josh N. Vo; Andrea Franson; Sebastian M. Waszak; Yi-Mi Wu; Nicole Becker; Arul M. Chinnaiyan; Dan R. Robinson

doi:10.1186/s40478-024-01896-8

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Germline loss-of-function variant in the E3 ubiquitin ligase TRAF2 in a young adult patient with medulloblastoma: a case report

Journal article

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Germline loss-of-function variant in the E3 ubiquitin ligase TRAF2 in a young adult patient with medulloblastoma: a case report

Josh N. Vo, Andrea Franson, Sebastian M. Waszak, Yi-Mi Wu, Nicole Becker, Arul M. Chinnaiyan and Dan R. Robinson

Acta neuropathologica communications, Vol.12(1), pp.195-10

12/20/2024

DOI: 10.1186/s40478-024-01896-8

PMCID: PMC11662563

PMID: 39707575

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Abstract

We identified a rare heterozygous germline loss-of-function variant in the tumor necrosis factor receptor-associated factor 2 ( TRAF2 ) in a young adult patient diagnosed with medulloblastoma. This variant is located within the TRAF-C domain of the E3 ubiquitin ligase protein and is predicted to diminish the binding affinity of TRAF2 to upstream receptors and associated adaptor proteins. Integrative genomics revealed a biallelic loss of TRAF2 via partial copy-neutral loss-of-heterozygosity of 9q in the medulloblastoma genome. We further performed comparative analysis with an in-house cohort of 20 medulloblastomas sequenced using the same platform, revealing an atypical molecular profile of the TRAF2 -associated medulloblastoma. Our research adds to the expanding catalog of genetic tumor syndromes that increase the susceptibility of carriers to MB.

Biomedical and Life Sciences

Biomedicine

Case Report

Neurology

Neurosciences

Pathology

Details

Title: Subtitle: Germline loss-of-function variant in the E3 ubiquitin ligase TRAF2 in a young adult patient with medulloblastoma: a case report
Creators: Josh N. Vo - University of Michigan
Andrea Franson - University of Michigan
Sebastian M. Waszak - École Polytechnique Fédérale de Lausanne
Yi-Mi Wu - Michigan Center for Translational Pathology
Nicole Becker - University of Michigan
Arul M. Chinnaiyan - University of Michigan
Dan R. Robinson - Michigan Center for Translational Pathology
Resource Type: Journal article
Publication Details: Acta neuropathologica communications, Vol.12(1), pp.195-10
DOI: 10.1186/s40478-024-01896-8
PMID: 39707575
PMCID: PMC11662563
NLM abbreviation: Acta Neuropathol Commun
ISSN: 2051-5960
eISSN: 2051-5960
Publisher: BioMed Central
Grant note: U2CCA271854-03; U2CCA271854-03 / Early Detection Research Network CSDG-21-177-01 / American Cancer Society R35CA231996 / NCI Outstanding Investigator Award
Language: English
Date published: 12/20/2024
Academic Unit: Pathology
Record Identifier: 9984966846502771

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