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- Title
Recurrent primary intracranial sarcoma, DICER1-mutant in a pediatric patient with DICER1 syndrome: the importance of molecular testing.
- Authors
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
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 later within the surgical cavity. Following the gross tumor resection of this new lesion, the same multimodal standard approach was used. From a molecular perspective, evidence of hyperactivation of the MAPK-kinase pathway with a pathogenic KRAS mutation at both diagnosis and recurrence was present. The patient is currently in remission, 18 months post-end of treatment.
- Subjects
GENETIC disorders; CHILD patients; SYNOVIOMA; SARCOMA; COMBINED modality therapy; TUMOR surgery
- Publication
Child's Nervous System, 2024, Vol 40, Issue 6, p1965
- ISSN
0256-7040
- Publication type
Case Study
- DOI
10.1007/s00381-024-06356-1