Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations.

doi:10.1007/s00401-018-1871-6

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Article

Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations.

Acta neuropathologica - 1 Aug 2018

Koelsche Christian, Mynarek Martin, Schrimpf Daniel, Bertero Luca, Serrano Jonathan, Sahm Felix, Reuss David E, Hou Yanghao, Baumhoer Daniel, Vokuhl Christian, Flucke Uta, Petersen Iver, Brück Wolfgang, Rutkowski Stefan, Zambrano Sandro Casavilca, Garcia Leon Juan Luis, Diaz Coronado Rosdali Yesenia, Gessler Manfred, Tirado Oscar M, Mora Jaume, Alonso Javier, Garcia Del Muro Xavier, Esteller Manel, Sturm Dominik, Ecker Jonas, Milde Till, Pfister Stefan M, Korshunov Andrey, Snuderl Matija, Mechtersheimer Gunhild, Schüller Ulrich, Jones David T W, von Deimling Andreas

Abstract excerpt

Patients with DICER1 predisposition syndrome have an increased risk to develop pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, and several other rare tumor entities. In this study, we identified 22 primary intracranial sarcomas, including 18 in pediatric patients, with a distinct methylation signature detected by array-based DNA-methylation profiling. In addition, two uterine...

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Identifiers

PMID: 29881993
DOI: 10.1007/s00401-018-1871-6

Genes

DICER1
EGFR
FGFR4
KRAS
NRAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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