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