Medulloblastoma ? SHH Or WNT Pathway Mutations

Medulloblastoma is the most prevalent malignant brain tumour in children, originating in the cerebellum. Molecular profiling has pinpointed several subgroups, particularly those influenced by Sonic Hedgehog (SHH) or WNT pathway alterations. These signalling pathways are essential for normal brain development; they govern cell proliferation, differentiation, and survival.

Mutations in genes like PTCH1, SMO, or SUFU cause the SHH pathway to be too active in SHH-subgroup medulloblastomas. This leads to uncontrolled cell proliferation. This subgroup frequently impacts newborns and adults, with prognosis varying based on supplementary genetic modifications.

Mutations in CTNNB1 (β-catenin) that turn on the WNT signalling pathway are what cause WNT-subgroup medulloblastomas. This subgroup usually affects older children and has a high chance of getting better since they respond well to treatment.

To figure out what kind of tumour it is, doctors use MRI, histology, and molecular testing. Surgery, craniospinal irradiation, and chemotherapy are common treatments. For SHH-driven tumours, researchers are looking into molecularly targeted medicines such as SMO inhibitors.

Pathway-specific mutations make precision oncology possible, which means better, less harmful treatments and longer lives for both children and adults with medulloblastoma.