Schwannomatosis patients develop extremely painful spinal, peripheral, and cranial-nerve Schwann cell tumors (schwannomas) and frequently suffer from additional neurological symptoms including numbness and weakness in the extremities. Although the mechanism of Schwann cell tumor development is not fully understood, recent studies suggest that mutation of the tumor suppressor gene Snf5/Ini1/SMARCB1 may be involved in familial schwannomatosis. Recent data also suggests that inactivation of the NF2 gene may also play a role in SMARCB1-initiated schwannoma development. Dr. Vitte, with funding from an FY09 NFRP Postdoctoral Traineeship Award, successfully developed a preclinical animal model to better understand the role of Snf5 in Schwann cell tumor development and schwannomatosis-related neurological pain. Interestingly, preliminary data suggests that inactivation of both Nf2 and Snf5 in the novel preclinical model results in the development of nerve lesions. Dr. Vitte has also developed a collaboration with investigators at the University of California, Los Angeles, to evaluate the role of Snf5 in schwannomatosis neuropathic pain.
Mouse Model of Schwannomatosis-Related Neuropathic Pain