Loss of neurofibromin in adrenal gland tumors from patients with neurofibromatosis type I

David H. Gutmann, Jeffery L. Cole, William J. Stone, Bruce A.J. Ponder, Francis S. Collins

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Abstract

The neurofibromatosis type I gene encodes a protein, neurofibromin, which may function as a tumor suppressor gene product. Recent studies have demonstrated loss of neurofibromin in tumors from NFI and non‐NFI patients, including neurofibrosar‐comas, neuroblastomas and malignant melanomas. Since neurofibromin is expressed in the adrenal gland, six pheochromocy‐tomas and one adrenal cortical tumor were examined for neurofibromin expression. In all seven tumors, no neurofibromin could be detected. Furthermore, loss of heterozygosity (LOH) analysis demonstrated that in one of the pheochromocytomas, reduction to homozygosity was observed for both 17p and 17q markers while the adrenal cortical tumor demonstrated LOH for only 17q markers. The frequent LOH surrounding the NFI locus and lack of neurofibromin expression in these tumors suggest that NFI gene mutations may contribute to the development of adrenal gland neoplasms in patients with NFI. Genes Chrom Cancer 10:55–58 (1994). © 1994 Wiley‐Liss, Inc.

Original languageEnglish
Pages (from-to)55-58
Number of pages4
JournalGenes, Chromosomes and Cancer
Volume10
Issue number1
DOIs
StatePublished - May 1994

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