title: Myelodysplastic Syndrome Occurring in a Patient with Gorlin Syndrome.
abstract: We report a case of myelodysplastic syndrome (MDS) occurring in an African American boy with Gorlin syndrome with a novel PTCH1 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.
authors.affiliation: Division of Dermatology, School of Medicine, Washington University, St. Louis, Missouri.|Barnes-Jewish Hospital, St. Louis, Missouri.
authors.forename: Jamie L
authors.initials: JL
authors.lastname: Mull
authors.affiliation: Division of Pediatric Hematology-Oncology, School of Medicine, Washington University, St. Louis, Missouri.|St. Louis Children's Hospital, St. Louis, Missouri.
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Madden
authors.affiliation: Division of Dermatology, School of Medicine, Washington University, St. Louis, Missouri.|St. Louis Children's Hospital, St. Louis, Missouri.
authors.forename: Susan J
authors.initials: SJ
authors.lastname: Bayliss
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001478:Basal Cell Nevus Syndrome / Q000150:complications* / Q000628:therapy; D016026:Bone Marrow Transplantation; D002648:Child; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000209:etiology* / Q000628:therapy; D000072081:Patched-1 Receptor / Q000235:genetics
chemical_list: C000606236:PTCH1 protein, human; D000072081:Patched-1 Receptor