Myelodysplastic Syndrome Occurring in a Patient with Gorlin Syndrome

We report a case of myelodysplastic syndrome ( MDS ) occurring in an African American boy with Gorlin syndrome with a novel PTCH 1 mutation. Before developing MDS , the patient had been treated with chemotherapy and radiation for a medulloblastoma. He received a bone marrow transplant for the MDS and eventually died of treatment complications. Secondary hematologic malignancies are a known complication of certain chemotherapeutics, although whether a patient with Gorlin syndrome has a greater propensity for the development of such malignancies is unclear.