Stains
Neurofibromin
Copyright: 2002-2015, PathologyOutlines.com, Inc.
PubMed Search: Neurofibromin [title]
Neurofibromin
Author: Nat Pernick, M.D.
Topic Completed: 1 June 2005
Minor changes: 7 March 2019
Copyright: 2002-2015, PathologyOutlines.com, Inc.
PubMed Search: Neurofibromin [title]
Table of Contents
Definition / generalCite this page: Pernick N. Neurofibromin. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/stainsneurofibromin.html. Accessed June 2nd, 2020.
Definition / general
- Tumor suppressor gene produced by NF1 gene at 17q11.2
- Member of GTPase activating protein (GAP) family of RAS regulatory proteins
- Downregulates p21 and Ras, and also links integral membrane protein with cytoskeleton; mutations cause constitutive RAS activation
- Heterogeneous mutations seen in neurofibromatosis type 1 (NF1), the most common autosomal dominant inherited disorder in humans (1 per 3000)
- Disorder characterized by benign tumors of peripheral nerves, cafe au lait spots, retinal hamartomas
- Also increased risk of malignancy, gastrointestinal stromal tumors (Am J Surg Pathol 2005;29:1170)
