Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria

American Journal of Medical Genetics Part A

Schwannomatosis research presented included genetic studies that indicate that constitutional mutations in the SMARCB1 tumor suppressor gene occur in 40–50% of familial cases and in 8–10% of sporadic cases of schwannomatosis, insights from research on HIV and pediatric rhabdoid tumors that shed light on potential molecular pathways that are dysregulated in schwannomatosis-related schwannomas, mouse models of schwannomatosis that promise to further expand our understanding of tumorigenesis and the tumor microenvironment, and clinical reports that describe the occurrence of intracranial meningiomas in schwannomatosis patients and in families with germline SMARCB1 mutations.