𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

✍ Scribed by Dr. David H. Gutmann; Jeffery L. Cole; William J. Stone; Bruce A. J. Ponder; Francis S. Collins

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
361 KB
Volume
10
Category
Article
ISSN
1045-2257

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✦ Synopsis

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 NF I and non-NF I patients, including neurofibrosarcomas. neuroblastomas and malignant melanomas. Since neurofibromin is expressed in the adrenal gland, six pheochromocytomas 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 I7p 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 Chrorn Cancer 10: 55-58 (1994).

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