Germline SUFU mutations were identified in two families with several children under 3 diagnosed with medulloblastoma. All medulloblastomas which histology was reviewed were of the desmoplastic subtype, including three with the rare extensive nodularity subtype. In both families, the mutation detected in the SUFU gene was a frameshift mutation. Among the 25 mutation carriers identified in the two families, 7 developed medulloblastomas.
Our report highlights three features of SUFU-related tumors. These are mainly medulloblastomas with extensive nodularity or classic desmoplastic/nodular medulloblastomas. These tumors mostly appear during the first three years of life. The penetrance of the mutation may be low.