title: Complications of the nevoid basal cell carcinoma syndrome: a case report.
abstract: OBJECTIVE
  We report that patients with nevoid basal cell carcinoma syndrome (Gorlin syndrome) are at risk for developing neoplasms, especially basal cell carcinomas and rarely medulloblastoma.
  
  
  METHODS
  A case report is presented of a 5-year-old child with medulloblastoma and multiple basal cell carcinomas who was diagnosed with nevoid basal cell carcinoma syndrome. Genetic analyses were performed on tumor DNA from the patient's medulloblastoma and basal cell carcinoma as well as germline DNA from the patient and unaffected family members.
  
  
  RESULTS
  After radiation therapy for medulloblastoma, the patient developed thousands of additional basal cell carcinomas. Analysis of tumor DNA revealed the characteristic defect of nevoid basal cell carcinoma syndrome, loss of heterozygosity at 9q22. Photodynamic therapy was successfully used to control the majority of her cutaneous tumors.
  
  
  CONCLUSIONS
  DNA analysis confirmed the presence of the distinctive genetic lesion of nevoid basal cell carcinoma syndrome in both medulloblastoma and basal cell carcinoma. Omitting or limiting radiation therapy for children with nevoid basal cell carcinoma syndrome and medulloblastoma should be considered.
authors.affiliation: Department of Hematology-Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
authors.forename: A W
authors.initials: AW
authors.lastname: Walter
authors.forename: E K
authors.initials: EK
authors.lastname: Pivnick
authors.forename: A E
authors.initials: AE
authors.lastname: Bale
authors.forename: L E
authors.initials: LE
authors.lastname: Kun
mesh_terms: D000483:Alleles; D001478:Basal Cell Nevus Syndrome / Q000188:drug therapy / Q000235:genetics; D014408:Biomarkers, Tumor; D002528:Cerebellar Neoplasms / Q000235:genetics / Q000532:radiotherapy; D002675:Child, Preschool; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D006801:Humans; D008527:Medulloblastoma / Q000235:genetics / Q000532:radiotherapy; D009378:Neoplasms, Multiple Primary / Q000235:genetics / Q000532:radiotherapy; D012878:Skin Neoplasms / Q000188:drug therapy / Q000235:genetics
chemical_list: D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm