Analysis of the Hybrid Schwannoma and Neurofibroma Including a Case Report of Schwannomatosis Caused by a Mutation in the LZTR1 Gene

Schwannomatosis, a disease characterized by multiple schwannomas, can be caused by mutations in the LZTR1 and SMARCB1 genes. This study analyzed two patients with hybrid schwannoma and neurofibroma, identifying a novel frameshift mutation c.1844delA in the LZTR1 gene in one patient. This patient had a history of two schwannoma removal surgeries. The other patient, without any identified mutations, had no history of schwannoma. The study concluded that patients with schwannomatosis caused by LZTR1 mutation can have hybrid schwannoma and neurofibroma, but the presence of these hybrid tumors does not necessarily indicate schwannomatosis. The researchers are currently analyzing 66 samples of schwannomas to further investigate the frequency of hybrid schwannoma and neurofibroma and the presence of NF2, LZTR1, and SMARCB1 mutations in these samples.