{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Yabut OR"],"funding":["NIH/NCI","NIMH NIH HHS","American Brain Tumor Association","NCI NIH HHS","NINDS NIH HHS","National Institutes of Health","NIH HHS"],"pagination":["RP100767"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11750132"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["13"],"pubmed_abstract":["Mutations in Sonic Hedgehog (SHH) signaling pathway genes, for example, <i>Suppressor of Fused</i> (SUFU), drive granule neuron precursors (GNP) to form medulloblastomas (MB<sup>SHH</sup>). However, how different molecular lesions in the Shh pathway drive transformation is frequently unclear, and <i>SUFU</i> mutations in the cerebellum seem distinct. In this study, we show that fibroblast growth factor 5 (FGF5) signaling is integral for many infantile MB<sup>SHH</sup> cases and that <i>FGF5</i> expression is uniquely upregulated in infantile MB<sup>SHH</sup> tumors. Similarly, mice lacking SUFU (Sufu-cKO) ectopically express <i>Fgf5</i> specifically along the secondary fissure where GNPs harbor preneoplastic lesions and show that FGFR signaling is also ectopically activated in this region."],"journal":["eLife"],"pubmed_title":["Aberrant FGF signaling promotes granule neuron precursor expansion in SHH subgroup infantile medulloblastoma."],"pmcid":["PMC11750132"],"funding_grant_id":["R01 MH077694","R01MH077694-S1","K01CA201068","A131363","K01 CA201068","R01MH077694","R01 NS118995","R01NS118995"],"pubmed_authors":["Ngo T","Pleasure SJ","Gomez HG","Castillo JG","Arela J","Yabut OR"],"additional_accession":[]},"is_claimable":false,"name":"Aberrant FGF signaling promotes granule neuron precursor expansion in SHH subgroup infantile medulloblastoma.","description":"Mutations in Sonic Hedgehog (SHH) signaling pathway genes, for example, <i>Suppressor of Fused</i> (SUFU), drive granule neuron precursors (GNP) to form medulloblastomas (MB<sup>SHH</sup>). However, how different molecular lesions in the Shh pathway drive transformation is frequently unclear, and <i>SUFU</i> mutations in the cerebellum seem distinct. In this study, we show that fibroblast growth factor 5 (FGF5) signaling is integral for many infantile MB<sup>SHH</sup> cases and that <i>FGF5</i> expression is uniquely upregulated in infantile MB<sup>SHH</sup> tumors. Similarly, mice lacking SUFU (Sufu-cKO) ectopically express <i>Fgf5</i> specifically along the secondary fissure where GNPs harbor preneoplastic lesions and show that FGFR signaling is also ectopically activated in this region.","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jan","modification":"2026-06-02T10:19:56.279Z","creation":"2025-04-03T23:36:26.91Z"},"accession":"S-EPMC11750132","cross_references":{"pubmed":["39835775"],"doi":["10.7554/eLife.100767"]}}