Somatic instability of the NF2 gene in schwannomatosis.

Context: Schwannomatosis is a newly described form of neurofibromatosis of unclear pathogenesis.

Patient And Methods: We studied the NF2 locus on chromosome 22 in 7 tumor specimens resected from a 36-year-old man with schwannomatosis of the right ulnar nerve.

Results: Unrelated truncating NF2 gene mutations were detected in 4 tumor specimens.