Medulloblastoma, SHH-Activated

1. Disease Information

1.1 Overview and current definition

SHH-activated medulloblastoma is a molecularly defined subgroup of medulloblastoma characterized by activation of Sonic Hedgehog signaling and recognized in the WHO 2021 (WHO CNS5) integrated classification framework. WHO CNS5 further separates SHH-activated medulloblastoma into TP53-wildtype and TP53-mutant types, reflecting major prognostic differences. (koch2025thecurrentlandscape pages 2-4)

1.2 Common synonyms / alternative names

• “SHH medulloblastoma”
• “Sonic Hedgehog medulloblastoma”
• “Hedgehog pathway–activated medulloblastoma”
• “SHH-activated medulloblastoma, TP53-wildtype”
• “SHH-activated medulloblastoma, TP53-mutant” (koch2025thecurrentlandscape pages 2-4)

1.3 Evidence source types

The evidence supporting disease definition and subclassification here is derived from aggregated disease-level resources (reviews and multi-institutional cohorts) and clinical trial registries (ClinicalTrials.gov), not EHR data. (koch2025thecurrentlandscape pages 2-4, NCT01708174 chunk 1, NCT00939484 chunk 1)

2. Etiology

2.1 Primary causal/mechanistic factors

SHH-activated medulloblastoma is driven by genomic events that activate Hedgehog signaling at the level of pathway repressors and transducers (e.g., PTCH1, SMO, SUFU) and downstream effectors (e.g., GLI2 amplification), often in age-dependent patterns. (koch2025thecurrentlandscape pages 2-4, kim2025advancingmedulloblastomatherapy pages 4-6)

2.2 Risk factors

Genetic risk factors

• Germline predisposition is enriched in SHH tumors compared with other medulloblastoma groups and includes:
• Gorlin syndrome (classically PTCH1; also SUFU) (koch2025thecurrentlandscape pages 2-4, kim2025advancingmedulloblastomatherapy pages 4-6)
• Li–Fraumeni syndrome (TP53) (koch2025thecurrentlandscape pages 2-4)

Environmental risk factors

No specific, well-supported environmental exposures were identified in the retrieved sources for SHH-activated medulloblastoma.

2.3 Protective factors

Protective factors were not identified in the retrieved evidence.

2.4 Gene–environment interactions

No SHH-specific gene–environment interaction evidence was identified in the retrieved corpus.

3. Phenotypes

3.1 Clinical presentation (typical)

SHH-activated medulloblastoma commonly presents with symptoms and signs attributable to a posterior fossa mass and/or hydrocephalus. In adolescents/young adults (AYAs), reported presenting symptoms include nausea/vomiting, headache, and ataxia, with potential diagnostic delay. (ruggiero2026medulloblastomainadolescents pages 2-4)

3.2 Age distribution and anatomic tendencies

• SHH tumors show a bimodal age distribution enriched in infants (<3 years) and adults. (ruggiero2026medulloblastomainadolescents pages 2-4, koch2025thecurrentlandscape pages 2-4)
• In adults, SHH molecular signature is common among medulloblastomas (reported ~70% in an adult series context statement). (korshunov2021integratedmolecularanalysis pages 1-2)

3.3 HPO term suggestions (non-exhaustive)

Common clinical manifestations to map: - Headache — HP:0002315 - Nausea — HP:0002018 - Vomiting — HP:0002013 - Ataxia — HP:0001251 - Hydrocephalus — HP:0000238 - Increased intracranial pressure — HP:0002516

(Ontology suggestions are provided for KB normalization; frequencies were not consistently extractable from the retrieved SHH-specific sources.)

4. Genetic / Molecular Information

4.1 Key causal/driver genes and alterations

Common SHH-pathway drivers and subgroup modifiers include: - PTCH1 (loss-of-function; germline or somatic), SMO (activating), SUFU (loss-of-function), GLI2/GLI1 amplification, MYCN amplification, TP53 alteration (esp. high-risk childhood), and TERT promoter mutation in adult-associated SHH subtypes. (koch2025thecurrentlandscape pages 2-4, kim2025advancingmedulloblastomatherapy pages 4-6, ruggiero2026medulloblastomainadolescents pages 2-4)

A review table summarizing major SHH alterations lists TP53, TERT, PTCH1 and also GLI2, SMO, SUFU as commonly reported alterations in SHH medulloblastoma. (slika2023theneurodevelopmentaland pages 1-2)

4.2 DNA methylation / transcriptomic subclasses

Two widely used frameworks appear in the retrieved evidence: 1) SHH-α / SHH-β / SHH-γ / SHH-δ (Cavalli-style) subclasses with age associations (infant vs child vs adult) and distinct genomics including TERT promoter enrichment in adult-associated classes. (korshunov2021integratedmolecularanalysis pages 2-3, ruggiero2026medulloblastomainadolescents pages 2-4, kim2025advancingmedulloblastomatherapy pages 4-6) 2) WHO 2021 early-childhood SHH methylation classes: SHH-1, SHH-2, SHH-3, with evidence that SHH-2 can be further divided into SHH-2a and SHH-2b with distinct relapse risk in radiation-avoiding cohorts. (tonn2023riskpredictionin pages 1-2)

4.3 Somatic vs germline

Both germline and somatic alterations contribute: - Germline: PTCH/SUFU (Gorlin), TP53 (Li–Fraumeni). (koch2025thecurrentlandscape pages 2-4, kim2025advancingmedulloblastomatherapy pages 4-6) - Somatic: PTCH1/SMO/SUFU mutations and amplifications (e.g., GLI2, MYCN). (kim2025advancingmedulloblastomatherapy pages 4-6, ruggiero2026medulloblastomainadolescents pages 2-4)

4.4 Epigenetics

Genome-wide DNA methylation signatures are clinically leveraged for medulloblastoma subgrouping and SHH subclassification (e.g., Heidelberg classifier use in cohorts and trials). (tonn2023riskpredictionin pages 3-5, NCT01708174 chunk 1)

5. Mechanism / Pathophysiology

5.1 Core pathway mechanism (causal chain)

A simplified causal chain consistent with retrieved clinical/translational sources: 1) Genomic activation of the SHH pathway via loss of negative regulation (PTCH1/SUFU) or activation of transduction (SMO) (kim2025advancingmedulloblastomatherapy pages 4-6, ruggiero2026medulloblastomainadolescents pages 2-4) 2) GLI transcription factor program activation (downstream of SMO/SUFU axis) promoting proliferation/survival programs in cerebellar developmental lineages (kim2025advancingmedulloblastomatherapy pages 4-6) 3) Emergence of SHH medulloblastoma with subgroup-specific patterns of chromosomal alterations and oncogene amplification (e.g., MYCN/GLI2) that influence aggressiveness and treatment response (kim2025advancingmedulloblastomatherapy pages 4-6, ruggiero2026medulloblastomainadolescents pages 2-4)

5.2 Cell(s) of origin / lineage context

SHH tumors are described as arising from cerebellar granule neuron precursor lineage / granule lineage precursors (broadly consistent across review and AYA-focused summaries). (ruggiero2026medulloblastomainadolescents pages 2-4, charton2024modellingtheeffects pages 13-17)

5.3 Suggested GO biological process terms

• Hedgehog signaling pathway — GO:0007224
• Regulation of cell proliferation — GO:0042127
• DNA damage response (relevant to TP53-mutant biology) — GO:0006974

5.4 Suggested Cell Ontology (CL) terms

• Cerebellar granule cell precursor — (candidate CL term; exact CL ID should be confirmed in CL/UBERON crosswalk)

6. Inheritance and Population

6.1 Inheritance patterns (predisposition)

Inheritance applies primarily to tumor predisposition syndromes: - Autosomal dominant predisposition syndromes such as Gorlin (PTCH1/SUFU) and Li–Fraumeni (TP53). (koch2025thecurrentlandscape pages 2-4)

6.2 Epidemiology and subgroup proportions

• SHH-activated medulloblastoma accounts for ~25–30% of medulloblastomas overall in multiple summaries. (koch2025thecurrentlandscape pages 2-4, slika2023theneurodevelopmentaland pages 1-2)
• In an adult SHH cohort study context statement, SHH signature is more frequent in adult medulloblastoma (~70%) than pediatric (~30%). (korshunov2021integratedmolecularanalysis pages 1-2)

Note: Population-based incidence rates specific to SHH-activated medulloblastoma (e.g., CBTRUS molecular subtype incidence) were not extractable from the retrieved CBTRUS text segments during this run.

7. Diagnostics

7.1 Integrated diagnosis approach

Modern diagnostic practice is layered/integrated: histopathology plus molecular subgroup assignment, increasingly via genome-wide methylation profiling. A molecular pathology review states WHO CNS5 recognizes four major medulloblastoma molecular subgroups by DNA methylation profiling and notes defining the molecular subgroup by methylation profiling as standard-of-care framing in contemporary practice. (koch2025thecurrentlandscape pages 2-4)

7.2 DNA methylation profiling (practical implementation)

A major early-childhood cohort used Illumina 450K/EPIC methylation arrays and referenced a Heidelberg Brain Tumor Classifier version (v12.5) in subclass assignment and risk modeling; this illustrates real-world feasibility of methylation-driven SHH subclassification in cooperative cohorts. (tonn2023riskpredictionin pages 3-5)

7.3 Sequencing

Targeted sequencing and/or exome sequencing is used to identify actionable/pathway-defining variants (PTCH1/SMO/SUFU; TP53; amplifications) and to interpret resistance (e.g., acquired SMO mutations after SMO inhibitor exposure). (pereira2021clinicalandmolecular pages 2-3)

7.4 Differential diagnosis

Differential diagnosis in posterior fossa pediatric tumors includes other medulloblastoma molecular groups (WNT, Group 3, Group 4) and other embryonal tumors; subgrouping by methylation profiling is a central discriminator in current practice. (koch2025thecurrentlandscape pages 2-4)

8. Outcome / Prognosis

8.1 Prognostic stratifiers

• TP53 mutation status in SHH medulloblastoma is repeatedly highlighted as a major adverse prognostic factor, with approximate 5-year survival differences on the order of ~80% (TP53-wildtype) vs ~40% (TP53-mutant) in one molecular pathology review summary. (koch2025thecurrentlandscape pages 2-4)

8.2 Early-childhood SHH prognosis under radiation-avoiding therapy (key statistics)

A large cohort of 144 children <5 years with SHH desmoplastic/nodular MB or MBEN treated with radiation-sparing chemotherapy reported (overall cohort): - 5-year PFS 78% and 5-year OS 93% (tonn2023riskpredictionin pages 3-5) - Histology/age effects: MBEN 5-year PFS 93% vs DMB 71%; age >3 years associated with 5-year PFS 47% vs 84–85% for younger age bands. (tonn2023riskpredictionin pages 1-2)

Subgroup-level risk differences were identified with methylation subclassing: - 5-year PFS in the primary cohort: SHH-2a 95%, SHH-1 83%, SHH-2b 58%. (tonn2023riskpredictionin pages 1-2)

A key figure (hierarchical clustering and Kaplan–Meier) additionally summarizes combined-cohort differences (5-year PFS SHH-2a 87%, SHH-1 68%, SHH-2b 48%). (tonn2023riskpredictionin media 3b1240bb)

8.3 Adult SHH molecular subsets and prognosis

In a study of 96 adult SHH medulloblastomas, two epigenetic subsets were defined with markedly different outcomes: - Favorable subset aSHH-MBI: 5-year PFS 80%, OS 92% - Unfavorable subset aSHH-MBII: 5-year PFS 24%, OS 45%

Direct abstract quote: “We defined two aSHH-MB numerically comparable epigenetic subsets…” with the unfavorable subset showing “5-year PFS = 24% and OS = 45%”. (korshunov2021integratedmolecularanalysis pages 1-2)

9. Treatment

9.1 Current standard backbone (real-world implementation)

Multimodal therapy is generally based on maximal safe resection plus risk-adapted radiotherapy and multiagent chemotherapy; however, in infants/very young children, craniospinal irradiation is often delayed/avoided, and SHH infant tumors may be cured with chemotherapy-only approaches in selected contexts. (tonn2023riskpredictionin pages 1-2, kim2025advancingmedulloblastomatherapy pages 10-12)

9.2 Targeted therapy: SMO inhibitors (vismodegib, sonidegib)

Clinical activity and predictive biomarkers

A retrospective series of young patients treated with SMO inhibitors for recurrent SHH medulloblastoma reported: - “All patients with a somatic PTCH1 mutation responded to SMOi (6/8), including 2 prolonged complete responses.” (pereira2021clinicalandmolecular pages 1-2) - “One patient was free of disease 8.2 years after treatment.” (pereira2021clinicalandmolecular pages 1-2) - Overall 6/8 (75%) objective responses (4 PR, 2 CR) in detailed excerpted reporting. (pereira2021clinicalandmolecular pages 2-3)

Toxicities (key safety considerations)

Severe or clinically limiting toxicities included “myalgia and growth plate fusion with metaphyseal sclerosis” in the SMO inhibitor series; the authors highlight developmental toxicity as a key limitation for pediatric use. (pereira2021clinicalandmolecular pages 1-2)

Resistance mechanisms

Resistance can emerge via acquired SMO mutations: - Clinical relapse biopsies after SMO inhibitor treatment showed “SMO resistance mutations”. (pereira2021clinicalandmolecular pages 1-2) - This is supported by preclinical modeling where sonidegib-resistant PDX lines frequently developed SMO missense mutations (mechanistic corroboration). (pereira2021clinicalandmolecular pages 1-2)

9.3 Selected ClinicalTrials.gov implementations (NCTs)

Clinical trial registry records show how SHH activation is operationalized and which endpoints are used.

Vismodegib in recurrent/refractory medulloblastoma (adults) - NCT00939484 (Phase II, completed; N=31). Stratified by PTCH/SHH pathway activation; primary endpoint objective response sustained ≥8 weeks. (NCT00939484 chunk 1) - URL: https://clinicaltrials.gov/study/NCT00939484 (start: 2009-06; completion: 2015-08 per record excerpt). (NCT00939484 chunk 1)

Vismodegib + temozolomide vs temozolomide alone (adults, SHH activation required) - NCT01601184 (Phase I/II, randomized, open-label; terminated early). Required “activation of the Sonic Hedgehog Pathway” by IHC; Phase II primary endpoint: “6-month progression-free rate.” (NCT01601184 chunk 1) - URL: https://clinicaltrials.gov/study/NCT01601184 (first posted 2012). (NCT01601184 chunk 1)

Sonidegib (LDE225) in pediatric/adult recurrent tumors with Hh dependence - NCT01125800 (Phase I/II, single-group; N=76). Pediatric dose escalation; ORR assessed by Hh signaling status (Hh-positive vs Hh-negative). (NCT01125800 chunk 1) - URL: https://clinicaltrials.gov/study/NCT01125800 (first posted 2011). (NCT01125800 chunk 1)

Sonidegib in Hh-pathway activated relapsed medulloblastoma - NCT01708174 (Phase II; completed; N=22). Eligibility required “Hh-pathway activation by the 5-gene Hh signature assay”; primary endpoint ORR by independent review. (NCT01708174 chunk 1) - URL: https://clinicaltrials.gov/study/NCT01708174 (start date 2013-05-06 per record excerpt). (NCT01708174 chunk 1)

9.4 MAXO (Medical Action Ontology) term suggestions

• Surgical tumor resection — MAXO (surgical excision; confirm exact MAXO ID)
• Craniospinal irradiation — MAXO (radiotherapy)
• Combination chemotherapy — MAXO (chemotherapy)
• Smoothened inhibitor therapy (vismodegib/sonidegib) — MAXO (targeted small-molecule therapy)
• High-dose chemotherapy with autologous stem cell rescue — MAXO (hematopoietic stem cell transplantation adjunct)

10. Prevention

10.1 Primary prevention

No validated primary prevention measures were identified.

10.2 Secondary/tertiary prevention: predisposition recognition and therapy modification

Given non-trivial germline predisposition in SHH tumors, an actionable prevention-like strategy is early identification of tumor predisposition syndromes and therapy adaptation. For example, reviews note radiotherapy should be used cautiously in germline predisposition settings (e.g., Gorlin/Li–Fraumeni) due to risk of secondary neoplasms. (koch2025thecurrentlandscape pages 2-4)

11. Other Species / Natural Disease

No naturally occurring non-human SHH-medulloblastoma evidence was retrieved in this run.

12. Model Organisms / Experimental Models

Multiple translational approaches underpin SHH biology and drug discovery, including: - Patient-derived xenograft (PDX) models for studying SMO inhibitor resistance (generated sonidegib-resistant lines). (pereira2021clinicalandmolecular pages 1-2) - Early developmental-lineage modeling to interpret differentiation blockade in SHH medulloblastoma (reviewed at high level in modeling-focused sources). (charton2024modellingtheeffects pages 13-17)

Suggested model annotations (non-exhaustive): - Mouse SHH pathway models (Ptch1/Sufu/Sm o alterations) - Orthotopic xenografts (PDX)

Recent developments and “latest research” highlights (prioritizing 2023–2024)

1) Risk prediction refinement within early-childhood SHH under radiotherapy-avoiding regimens: SHH-2 subdivides into SHH-2a vs SHH-2b with markedly different relapse risk (5-year PFS differences). (tonn2023riskpredictionin pages 1-2, tonn2023riskpredictionin media 3b1240bb) 2) Growing clinical operationalization of methylation classes in cooperative cohorts via Heidelberg classifier versions (e.g., v12.5). (tonn2023riskpredictionin pages 3-5) 3) Clinical translation of pathway-targeted therapy remains focused on SMO inhibitors with known pediatric skeletal toxicity and resistance mutations, emphasizing the need for combination strategies and biomarker-driven selection (e.g., PTCH1-mutated responders). (pereira2021clinicalandmolecular pages 1-2, NCT01601184 chunk 1)

Evidence summary table

The following table consolidates the key classification, molecular features, outcomes, and targeted-therapy evidence retrieved in this run.

Table: This table condenses the highest-yield classification, molecular, prognostic, and treatment evidence for SHH-activated medulloblastoma. It is designed to support a structured disease report with recent reviews plus key primary cohort and therapy data.

Notes on gaps / limitations of this run

• Ontology identifiers (MONDO/OMIM/Orphanet/ICD/MeSH) and population incidence rates from registry reports were not reliably extractable from the retrieved texts using the current tool outputs; filling these fields will require targeted retrieval from dedicated ontology resources or explicit registry sections not captured here.
• Several core statements are supported by reviews rather than primary genomic discovery papers due to corpus constraints; nevertheless, key numerical outcomes and trial design details were sourced from primary cohorts and ClinicalTrials.gov where possible. (tonn2023riskpredictionin pages 1-2, NCT00939484 chunk 1, NCT01708174 chunk 1)

References

1. (koch2025thecurrentlandscape pages 2-4): Alayna Koch, Ashley Childress, Emma Vallee, Alyssa Steller, and Scott Raskin. The current landscape of molecular pathology for the diagnosis and treatment of pediatric medulloblastoma. Journal of Molecular Pathology, 6:11, Jun 2025. URL: https://doi.org/10.3390/jmp6020011, doi:10.3390/jmp6020011. This article has 3 citations.

2. (NCT01708174 chunk 1): A Phase II Study of Oral LDE225 in Patients With Hedge-Hog (Hh)-Pathway Activated Relapsed Medulloblastoma (MB). Novartis Pharmaceuticals. 2013. ClinicalTrials.gov Identifier: NCT01708174

3. (NCT00939484 chunk 1): Vismodegib in Treating Patients With Recurrent or Refractory Medulloblastoma. National Cancer Institute (NCI). 2009. ClinicalTrials.gov Identifier: NCT00939484

4. (kim2025advancingmedulloblastomatherapy pages 4-6): David T. Kim, Michaela Uloho-Okundaye, Stephen C. Frederico, Santosh Guru, Min J. Kim, and Steven D. Chang. Advancing medulloblastoma therapy in pediatrics: integrative molecular classification and emerging treatments. Brain Sciences, 15:896, Aug 2025. URL: https://doi.org/10.3390/brainsci15080896, doi:10.3390/brainsci15080896. This article has 6 citations.

5. (ruggiero2026medulloblastomainadolescents pages 2-4): Antonio Ruggiero, Marco Gessi, Antonio d’Amati, Alessio Albanese, and Giorgio Attinà. Medulloblastoma in adolescents and young adults: molecular subgroups, prognostic biomarkers, and age-specific therapeutic challenges. Current Issues in Molecular Biology, 48:297, Mar 2026. URL: https://doi.org/10.3390/cimb48030297, doi:10.3390/cimb48030297. This article has 0 citations.

6. (korshunov2021integratedmolecularanalysis pages 1-2): Andrey Korshunov, Konstantin Okonechnikov, Damian Stichel, Marina Ryzhova, Daniel Schrimpf, Felix Sahm, Philipp Sievers, Oksana Absalyamova, Olga Zheludkova, Andrey Golanov, David T W Jones, Stefan M Pfister, Andreas von Deimling, and Marcel Kool. Integrated molecular analysis of adult sonic hedgehog (shh)-activated medulloblastomas reveals two clinically relevant tumor subsets with vegfa as potent prognostic indicator. Neuro-Oncology, 23:1576-1585, Feb 2021. URL: https://doi.org/10.1093/neuonc/noab031, doi:10.1093/neuonc/noab031. This article has 13 citations and is from a domain leading peer-reviewed journal.

7. (slika2023theneurodevelopmentaland pages 1-2): Hasan Slika, Paolo Alimonti, Divyaansh Raj, Chad Caraway, Safwan Alomari, Eric M. Jackson, and Betty Tyler. The neurodevelopmental and molecular landscape of medulloblastoma subgroups: current targets and the potential for combined therapies. Cancers, 15:3889, Jul 2023. URL: https://doi.org/10.3390/cancers15153889, doi:10.3390/cancers15153889. This article has 25 citations.

8. (korshunov2021integratedmolecularanalysis pages 2-3): Andrey Korshunov, Konstantin Okonechnikov, Damian Stichel, Marina Ryzhova, Daniel Schrimpf, Felix Sahm, Philipp Sievers, Oksana Absalyamova, Olga Zheludkova, Andrey Golanov, David T W Jones, Stefan M Pfister, Andreas von Deimling, and Marcel Kool. Integrated molecular analysis of adult sonic hedgehog (shh)-activated medulloblastomas reveals two clinically relevant tumor subsets with vegfa as potent prognostic indicator. Neuro-Oncology, 23:1576-1585, Feb 2021. URL: https://doi.org/10.1093/neuonc/noab031, doi:10.1093/neuonc/noab031. This article has 13 citations and is from a domain leading peer-reviewed journal.

9. (tonn2023riskpredictionin pages 1-2): Svenja Tonn, Andrey Korshunov, Denise Obrecht, Martin Sill, Michael Spohn, Katja von Hoff, Till Milde, Torsten Pietsch, Tobias Goschzik, Brigitte Bison, Björn-Ole Juhnke, Nina Struve, Dominik Sturm, Felix Sahm, Michael Bockmayr, Carsten Friedrich, André O von Bueren, Nicolas U Gerber, Martin Benesch, David T W Jones, Marcel Kool, Annika K Wefers, Ulrich Schüller, Stefan M Pfister, Stefan Rutkowski, and Martin Mynarek. Risk prediction in early childhood shh medulloblastoma treated with radiation-avoiding chemotherapy: evidence for more than two subgroups. Neuro-oncology, 25:1518-1529, Jan 2023. URL: https://doi.org/10.1093/neuonc/noad027, doi:10.1093/neuonc/noad027. This article has 8 citations and is from a domain leading peer-reviewed journal.

10. (tonn2023riskpredictionin pages 3-5): Svenja Tonn, Andrey Korshunov, Denise Obrecht, Martin Sill, Michael Spohn, Katja von Hoff, Till Milde, Torsten Pietsch, Tobias Goschzik, Brigitte Bison, Björn-Ole Juhnke, Nina Struve, Dominik Sturm, Felix Sahm, Michael Bockmayr, Carsten Friedrich, André O von Bueren, Nicolas U Gerber, Martin Benesch, David T W Jones, Marcel Kool, Annika K Wefers, Ulrich Schüller, Stefan M Pfister, Stefan Rutkowski, and Martin Mynarek. Risk prediction in early childhood shh medulloblastoma treated with radiation-avoiding chemotherapy: evidence for more than two subgroups. Neuro-oncology, 25:1518-1529, Jan 2023. URL: https://doi.org/10.1093/neuonc/noad027, doi:10.1093/neuonc/noad027. This article has 8 citations and is from a domain leading peer-reviewed journal.

11. (charton2024modellingtheeffects pages 13-17): C Charton. Modelling the effects of pediatric sonic hedgehog medulloblastoma driver mutations on granule lineage development. Unknown journal, 2024.

12. (pereira2021clinicalandmolecular pages 2-3): Victor Pereira, Jacob Torrejon, Dulanjalee Kariyawasam, Pablo Berlanga, Léa Guerrini-Rousseau, Olivier Ayrault, Pascale Varlet, Arnault Tauziède-Espariat, Stéphanie Puget, Stéphanie Bolle, Kevin Beccaria, Thomas Blauwblomme, Laurence Brugières, Jacques Grill, Birgit Geoerger, Christelle Dufour, and Samuel Abbou. Clinical and molecular analysis of smoothened inhibitors in sonic hedgehog medulloblastoma. Neuro-oncology Advances, Jul 2021. URL: https://doi.org/10.1093/noajnl/vdab097, doi:10.1093/noajnl/vdab097. This article has 26 citations and is from a peer-reviewed journal.

13. (tonn2023riskpredictionin media 3b1240bb): Svenja Tonn, Andrey Korshunov, Denise Obrecht, Martin Sill, Michael Spohn, Katja von Hoff, Till Milde, Torsten Pietsch, Tobias Goschzik, Brigitte Bison, Björn-Ole Juhnke, Nina Struve, Dominik Sturm, Felix Sahm, Michael Bockmayr, Carsten Friedrich, André O von Bueren, Nicolas U Gerber, Martin Benesch, David T W Jones, Marcel Kool, Annika K Wefers, Ulrich Schüller, Stefan M Pfister, Stefan Rutkowski, and Martin Mynarek. Risk prediction in early childhood shh medulloblastoma treated with radiation-avoiding chemotherapy: evidence for more than two subgroups. Neuro-oncology, 25:1518-1529, Jan 2023. URL: https://doi.org/10.1093/neuonc/noad027, doi:10.1093/neuonc/noad027. This article has 8 citations and is from a domain leading peer-reviewed journal.

14. (kim2025advancingmedulloblastomatherapy pages 10-12): David T. Kim, Michaela Uloho-Okundaye, Stephen C. Frederico, Santosh Guru, Min J. Kim, and Steven D. Chang. Advancing medulloblastoma therapy in pediatrics: integrative molecular classification and emerging treatments. Brain Sciences, 15:896, Aug 2025. URL: https://doi.org/10.3390/brainsci15080896, doi:10.3390/brainsci15080896. This article has 6 citations.

15. (pereira2021clinicalandmolecular pages 1-2): Victor Pereira, Jacob Torrejon, Dulanjalee Kariyawasam, Pablo Berlanga, Léa Guerrini-Rousseau, Olivier Ayrault, Pascale Varlet, Arnault Tauziède-Espariat, Stéphanie Puget, Stéphanie Bolle, Kevin Beccaria, Thomas Blauwblomme, Laurence Brugières, Jacques Grill, Birgit Geoerger, Christelle Dufour, and Samuel Abbou. Clinical and molecular analysis of smoothened inhibitors in sonic hedgehog medulloblastoma. Neuro-oncology Advances, Jul 2021. URL: https://doi.org/10.1093/noajnl/vdab097, doi:10.1093/noajnl/vdab097. This article has 26 citations and is from a peer-reviewed journal.

16. (NCT01601184 chunk 1): Study of Vismodegib in Combination With Temozolomide Versus Temozolomide Alone in Patients With Medulloblastomas With an Activation of the Sonic Hedgehog Pathway. Centre Leon Berard. 2012. ClinicalTrials.gov Identifier: NCT01601184

17. (NCT01125800 chunk 1): A Phase I Dose Finding and Safety Study of Oral LDE225 in Children and a Phase II Portion to Assess Preliminary Efficacy in Recurrent or Refractory MB. Novartis Pharmaceuticals. 2011. ClinicalTrials.gov Identifier: NCT01125800

18. (tonn2023riskpredictionin pages 2-3): Svenja Tonn, Andrey Korshunov, Denise Obrecht, Martin Sill, Michael Spohn, Katja von Hoff, Till Milde, Torsten Pietsch, Tobias Goschzik, Brigitte Bison, Björn-Ole Juhnke, Nina Struve, Dominik Sturm, Felix Sahm, Michael Bockmayr, Carsten Friedrich, André O von Bueren, Nicolas U Gerber, Martin Benesch, David T W Jones, Marcel Kool, Annika K Wefers, Ulrich Schüller, Stefan M Pfister, Stefan Rutkowski, and Martin Mynarek. Risk prediction in early childhood shh medulloblastoma treated with radiation-avoiding chemotherapy: evidence for more than two subgroups. Neuro-oncology, 25:1518-1529, Jan 2023. URL: https://doi.org/10.1093/neuonc/noad027, doi:10.1093/neuonc/noad027. This article has 8 citations and is from a domain leading peer-reviewed journal.

19. (kim2025advancingmedulloblastomatherapy pages 12-14): David T. Kim, Michaela Uloho-Okundaye, Stephen C. Frederico, Santosh Guru, Min J. Kim, and Steven D. Chang. Advancing medulloblastoma therapy in pediatrics: integrative molecular classification and emerging treatments. Brain Sciences, 15:896, Aug 2025. URL: https://doi.org/10.3390/brainsci15080896, doi:10.3390/brainsci15080896. This article has 6 citations.