Complications of the nevoid basal cell carcinoma syndrome: A case report

Andrew W. Walter, Eniko K. Pivnick, Allen E. Bale, Larry E. Kun

Research output: Contribution to journalArticle

31 Scopus citations

Abstract

Purpose: 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 carcinomas 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. Conclusion: 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.

Original languageEnglish (US)
Pages (from-to)258-262
Number of pages5
JournalJournal of Pediatric Hematology/Oncology
Volume19
Issue number3
DOIs
StatePublished - May 1 1997

Keywords

  • Basal cell nevus syndrome
  • Carcinoma, basal cell
  • Child
  • Gorlin syndrome
  • Medulloblastoma

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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