Evidence map›Paper›PMID 41264133›Full record

ArticleDiscover oncology2025

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

Meng Huang, Jian Li, Bo Liu, Yuxiang Liao, Bin Wang, Haipeng Liu, Ying Liu, Jie Zhao

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PubMed Full text at PMC Publisher
In one paragraph

Article in Discover oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Meng Huang *Department of Neurosurgery in Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China.
Jian Li *Department of Neurosurgery in Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China.
Bo LiuDepartment of Neurosurgery in Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China.
Yuxiang LiaoDepartment of Neurosurgery in Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China.
Bin WangDepartment of Neurosurgery in Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China.
Haipeng LiuDepartment of Neurosurgery in Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China.
Ying LiuDepartment of Neurosurgery in Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China. 598170861@qq.com.
Jie ZhaoDepartment of Neurosurgery in Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China. Steelzj@126.com.

Funding

National Natural Science Foundation of China 82172147National Natural Science Foundation of China 82303140Natural Science Foundation of Hunan Province 2021JJ30900Natural Science Foundation of Hunan Province,China 2016JJ2157Natural Science Foundation of Hunan Province,China 2025JJ60600
6 · The paper itself

Abstract

purposeMedulloblastoma (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.

methodsThis 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.

resultsMB2 harbored somatic chromosome 17q gain (prognostic marker) and two deleterious NF1 mutations (p.G2785V, p.N2788Y), absent in MB1. Germline analysis identified rare variants in KYAT3, SPATA31A6, and CBWD6, with potential roles in metabolic reprogramming (KYAT3) and genomic instability (SPATA31A6). No known MB predisposition syndromes or mutations were detected.

conclusionThis first report of familial non-WNT/non-SHH MBs highlights novel somatic (NF1) and germline (KYAT3, SPATA31A6) variants, suggesting unexplored oncogenic mechanisms. The findings underscore the need for further research to elucidate drivers of non-WNT/non-SHH MBs and develop targeted therapies. WES proves critical in uncovering genetic underpinnings of rare familial MBs.

Indexed as

Familiar medulloblastomaGermline mutationNon-WNT/non-SHH medulloblastomasWhole exome sequencing

Identifiers

PMID41264133
PMCPMC12748316

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