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. None of the NF2 mutations were present in the blood specimen. Loss of heterozygosity at the NF2 locus was seen in all tumors, and in every case the same allele was lost. Loss of distal chromosome 22 markers was variable. Fluorescence in situ hybridization results were consistent with monosomy 22 in 4 tumors and mitotic recombination or nondisjunction in 1.
Conclusions: Molecular analysis of tumor specimens distinguishes schwannomatosis from other forms of neurofibromatosis. Further work is needed to understand the natural history and molecular biology of this condition.