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A Case of Primary Intracranial Sarcoma, DICER1-Mutant, in a Child with a Germline DICER1 Mutation

Authors :
Suzanne Elizabeth Kosteniuk
George Michaiel
Christopher Dunham
Source :
Brain Sciences, Vol 13, Iss 7, p 1040 (2023)
Publication Year :
2023
Publisher :
MDPI AG, 2023.

Abstract

DICER1 syndrome is a tumor predisposition syndrome caused by abnormal micro-RNA processing which leads to a variety of benign and malignant neoplasms in many organ systems, including the central nervous system. This paper reports the case of a primary intracranial sarcoma, DICER1-mutant, in a patient with a germline DICER1 variant thought most likely to be de novo. The patient is a ten-year-old boy who presented acutely with altered level of consciousness, emesis, and left-sided weakness. Imaging revealed a large right frontal hemorrhagic lesion, which was urgently debulked. Histology demonstrated a high-grade sarcomatous lesion. Molecular studies revealed compound heterozygous DICER1 variants (a frame shift insertion and a missense mutation), and a KRAS missense mutation. The final pathologic diagnosis was rendered to be “primary intracranial sarcoma, DICER1-mutant”. Germline genetic testing revealed that the patient possessed a germline DICER1 variant (parental testing was negative). A dramatic reduction in tumor size was precipitated via chemotherapy (ifosfamide, carboplatin, and etoposide) and radiotherapy (focal proton beam therapy). There was no evidence of residual disease at the primary site at the end of the therapy.

Details

Language :
English
ISSN :
20763425
Volume :
13
Issue :
7
Database :
Directory of Open Access Journals
Journal :
Brain Sciences
Publication Type :
Academic Journal
Accession number :
edsdoj.3d9706250ca4e69b5bfd3503467ce55
Document Type :
article
Full Text :
https://doi.org/10.3390/brainsci13071040