Non-WNT/non-SHH medulloblastoma in siblings: case report and literature review
This 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.
Authors
- Jie Zhao (ORCID: https://orcid.org/0000-0002-8795-2770)
- Bin Wang (ORCID: https://orcid.org/0000-0001-8861-571X)
- Lei Zhu (ORCID: https://orcid.org/0000-0003-1685-7968)
- Jian Li (ORCID: https://orcid.org/0000-0003-3320-7924)
- Ying Liu (ORCID: https://orcid.org/0000-0003-3392-5977)
- Haipeng Liu (ORCID: https://orcid.org/0000-0002-3338-6291)
- Meng Huang (ORCID: https://orcid.org/0000-0003-2575-9403)
- Yuxiang Liao
Institutions
- Central South University (CN)
- National University of Defense Technology (CN)
- Xiangya Hospital Central South University (CN)
Publication Details
- Journal
- Discover Oncology
- Published
- 2025-11-20
- DOI
- https://doi.org/10.1007/s12672-025-04038-1
- Primary Topic
- Glioma Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00