Non-WNT/non-SHH medulloblastoma in siblings: case report and literature review.

ABSTRACT:

Purpose

Medulloblastoma (MB), a malignant cerebellar embryonal tumor, is predominantly sporadic, with rare familial cases linked to germline mutations in SUFU, PTCH1, TP53, and APC, primarily driving WNT and SHH molecular subtypes. Familial non-WNT/non-SHH MBs remain poorly understood, with limited genetic insights.

Methods

This study presents two siblings (11-year-old male, 16-year-old female) with non-WNT/non-SHH MBs. Whole exome sequencing (WES) was performed on tumor samples (MB1-T, MB2-T), peripheral blood (MB2-PB, parents), and analyzed for somatic/germline variants. Screening criteria excluded intronic/synonymous single nucleotide variants (SNVs) and common alleles.

Results

MB2 harbored somatic chromosome 17q gain (prognostic marker) and two deleterious NF1 mut

SUBMITTER: Huang M 

PROVIDER: S-EPMC12748316 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature