Home > G. Tumoral pathology > SMARCB1-associated familial schwannomatosis
SMARCB1-associated familial schwannomatosis
Sunday 29 April 2007
Synopsis
multiple schwannomas
no vestibular schwannomas (as in neurofibromatosis type 2, NF2)
Etiology
germline mutation of INI1/SMARCB1 (17357086)
References
SMARCB1 Deficiency in Tumors From the Peripheral Nervous System: A Link Between Schwannomas and Rhabdoid Tumors? Rizzo D, Fréneaux P, Brisse H, Louvrier C, Lequin D, Nicolas A, Ranchère D, Verkarre V, Jouvet A, Dufour C, Edan C, Stéphan JL, Orbach D, Sarnacki S, Pierron G, Parfait B, Peuchmaur M, Delattre O, Bourdeaut F. Am J Surg Pathol. 2012 May 17. PMID: 22614000
Hulsebos TJ, Plomp AS, Wolterman RA, Robanus-Maandag EC, Baas F, Wesseling P. Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet. 2007 Apr;80(4):805-10. PMID: 17357086
