Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.

doi:10.1007/s00401-020-02230-x

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Article

Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.

Acta neuropathologica - 1 Jan 2021

Mansouri Sheila, Suppiah Suganth, Mamatjan Yasin, Paganini Irene, Liu Jeffrey C, Karimi Shirin, Patil Vikas, Nassiri Farshad, Singh Olivia, Sundaravadanam Yogi, Rath Prisni, Sestini Roberta, Gensini Francesca, Agnihotri Sameer, Blakeley Jaishri, Ostrow Kimberly, Largaespada David, Plotkin Scott R, Stemmer-Rachamimov Anat, Ferrer Marcela Maria, Pugh Trevor J, Aldape Kenneth D, Papi Laura, Zadeh Gelareh

Abstract excerpt

Schwannomatosis (SWNTS) is a genetic cancer predisposition syndrome that manifests as multiple and often painful neuronal tumors called schwannomas (SWNs). While germline mutations in SMARCB1 or LZTR1, plus somatic mutations in NF2 and loss of heterozygosity in chromosome 22q have been identified in a subset of patients, little is known about the epigenomic and genomic alterations that drive SWNTS-related SWNs...

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PMID: 33025139
DOI: 10.1007/s00401-020-02230-x
PMCID: PMC7785562

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

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