ArticleNeuro-oncology2018
Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis.
Article in Neuro-oncology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 67 citations in OpenAlex.
- Phase II Study of Nonmetastatic Desmoplastic Medulloblastoma in Children Younger Than 4 Years of Age: A Report of the Children's Oncology Group (ACNS1221).Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2020Trial
- Risk-adapted therapy for young children with medulloblastoma (SJYC07): therapeutic and molecular outcomes from a multicentre, phase 2 trial.The Lancet. Oncology · 2018Trial
- Molecular and clinical features of a Japanese medulloblastoma cohort: Subgroup-specific prognostic stratification using economical/accessible diagnostic methods.Brain pathology (Zurich, Switzerland) · 2026Article
- Article
- Synchronous Cardiac Fibroma and Medulloblastoma in Gorlin Syndrome: A Paradigmatic Case and Narrative Review.Children (Basel, Switzerland) · 2025Article
- Salvage therapies for first relapse of SHH medulloblastoma in early childhood.Neuro-oncology · 2025Article
- Hedgehog pathway, cell cycle, and primary cilium.Cell death discovery · 2025Review
- The Prognostic Value of the Hedgehog Signaling Pathway in Ovarian Cancer.International journal of molecular sciences · 2025Article
- Article
- The predictive value of pre-treatment MRI-based radiomics and clinical characteristics for medulloblastoma recurrence in pediatric patients.Frontiers in neurology · 2025Article
- Sonic hedgehog signaling: Alternative splicing and pathogenic role in medulloblastoma.Genes & diseases · 2023Review
- Review
- Pediatric meningiomas: A literature review and diagnostic update.Neuro-oncology advances · 2023Article
- Inhibition of the transcription factor ZNF281 by SUFU to suppress tumor cell migration.Cell death and differentiation · 2023Article
- Research progress in molecular pathology markers in medulloblastoma.Exploration of targeted anti-tumor therapy · 2023Review
- Cancer risk and tumour spectrum in 172 patients with a germlineJournal of medical genetics · 2022Article
- The Expression Quantitative Trait Loci in Immune Response Genes Impact the Characteristics and Survival of Colorectal Cancer.Diagnostics (Basel, Switzerland) · 2022Article
- Recent advances in the molecular prognostication of meningiomas.Frontiers in oncology · 2022Review
- Congenital medulloblastoma in two brothers with SUFU-mutated Gorlin-Goltz syndrome: Case reports and literature review.Frontiers in oncology · 2022Article
- Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG).Familial cancer · 2021Article
Corrections and comments
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Authors and funding
20 authors at 10 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Germline mutations of suppressor of fused homolog (SUFU) predispose to sonic hedgehog (SHH) medulloblastoma. Germline SUFU mutations have been reported in nevoid basal cell carcinoma syndrome (NBCCS), but little is known about the cancer risk and clinical spectrum. Methods: We performed a retrospective review of all patients with medulloblastoma and a germline SUFU mutation in France. Results: Twenty-two patients from 17 families were identified with medulloblastoma and a germline SUFU mutation (median age at diagnosis: 16.5 mo). Macrocrania was present in 20 patients, but only 5 met the diagnostic criteria for NBCCS. Despite treatment with surgery and chemotherapy, to avoid radiotherapy in all patients except one, the outcome was worse than expected for SHH medulloblastoma, due to the high incidence of local relapses (8/22 patients) and second malignancies (n = 6 in 4/22 patients). The 5-year progression-free survival and overall survival rates were 42% and 66%. Mutations were inherited in 79% of patients, and 34 additional SUFU mutation carriers were identified within 14 families. Medulloblastoma penetrance was incomplete, but higher than in Patched 1 (PTCH1) mutation carriers. Besides medulloblastoma, 19 other tumors were recorded among the 56 SUFU mutation carriers, including basal cell carcinoma (BCC) in 2 patients and meningioma in 3 patients. Conclusion: Germline SUFU mutations strongly predispose to medulloblastoma in the first years of life, with worse prognosis than usually observed for SHH medulloblastoma. The clinical spectrum differs between SUFU and PTCH1 mutation carriers, and BCC incidence is much lower in SUFU mutation carriers. The optimal treatment of SUFU mutation-associated medulloblastoma has not been defined.
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