Recurrent primary intracranial sarcoma, DICER1-mutant in a pediatric patient with DICER1 syndrome: the importance of molecular testing.

doi:10.1007/s00381-024-06356-1

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Article

Recurrent primary intracranial sarcoma, DICER1-mutant in a pediatric patient with DICER1 syndrome: the importance of molecular testing.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Jun 2024

Lachance Alexandre, Dimentberg Evan, Huang Sidong, Bergeron-Gravel Samuel, Bouffet Éric, Fonseca Adriana, Crevier Louis, Saikali Stephan, Bourget Catherine, Giannakouros Panagiota, Faury Damien, Jabado Nada, Foulkes William D, Larouche Valérie, Renzi Samuele

Abstract excerpt

Pediatric intracranial sarcomas are rare, aggressive tumors with a poor prognosis in general. Here we report the case of a child who was initially diagnosed with a primary intracranial sarcoma, DICER1-mutant; subsequent genetic analyses confirmed a pathogenic germline DICER1 mutation. She received multimodal standard treatments consisting of surgery, radiotherapy and chemotherapy. The tumor recurred 2.5 years...

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Identifiers

PMID: 38478067
DOI: 10.1007/s00381-024-06356-1

Genes

DICER1
KRAS

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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