The neurofibromatosis gene in human pituitary adenomas

Endocrine Pathology
Lin Pei, Shlomo Melmed

Abstract

The neurofibromatosis 1 (NF1) gene encodes a protein neurofibromin, which contains a glutamyl transpeptidase (GTP)-activating protein (GAP)-related domain: NF1 GRD. This domain is able to down-regulate P21ras by stimulating its intrinsic GTPase. Because P2lras has an important role in regulating growth and differentiation, somatic mutations in the NF1 gene may result in mutant neurofibromins that might interfere with the Ras signaling pathway and contribute to the development of tumors. In this study, we used polymerase chain reaction (PCR)-coupled single-stranded conformational polymorphism (SSCP) and DNA sequencing to examine possible mutations in the NF1 GRD in human pituitary tumors. We screened 36 nonfunctioning and 20 growth hormone-secreting adenomas. No mutation was detected in these tumors. Our results indicate that inactivation of neurofibromin may not have a primary role in the formation of pituitary adenomas.

References

Apr 1, 1992·The Journal of Clinical Endocrinology and Metabolism·H J KargaJ L Jameson
Jan 1, 1987·Annual Review of Biochemistry·M Barbacid

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Citations

Apr 17, 2021·Cancer Genetics·Christopher S HongE Zeynep Erson-Omay

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