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Revisiting the Schwannomatosis Diagnosis 2 – A Role for Vestibular Schwannomas?

By November 29, 2011December 18th, 2023Awareness, Science & Research, SWN

Schwannomatosis is the rarest form of neurofibromatosis (NF), affecting an estimated 1:40,000 people, and it causes tumors to grow on peripheral nerves as well as severe and unmanageable pain.  It has also been the most mysterious form of NF, both in terms of accurate clinical diagnosis and in terms of understanding its biology and genetics.

In 2005, the Children’s Tumor Foundation spearheaded the publication of the first diagnostic criteria for schwannomatosis.  In those initial critieria, it was stated that if a person had one or two vestibular schwannomas  (tumors on the 8th cranial nerve in the brain) then this would exclude a diagnosis of schwannomatosis and indicate a diagnosis of NF2.  In 2007,  the first candidate gene for schwannomatosis – INI1/SmarcB1/Snf5 – was identified, and though this gene does not appear to be universally involved in all cases of schwannomatosis, it has aided in the diagnosis of the disorder and in researching its molecular basis.
Now a team led by Dr. D. Gareth Evans (University of Manchester) reports in the American Journal of Medical Genetics on two people each presenting with a unilateral (single) vestibular tumor as well as peripheral nerve tumors but for whom a diagnosis of NF2 has been eliminated through clinical or genetic evaluation.  This is an important finding, and suggests that there may be other cases elsewhere that have previously been diagnosed as NF2 that are in fact schwannomatosis.

The Children’s Tumor Foundation has made significant contributions to advancing schwannomatosis research through grant funding, including establishing the first Schwannomatosis International Database, as well as organizing a series of International Schwannomatosis Workshops to spur collaboration.  In December, we’ll be announcing some newly funded schwannomatosis research projects and unveiling future plans for our continued commitment to advancing this research area.