2020 CDMRP NF Research Highlight: Pain in Neurofibromatosis

Published On: 01/01/2021

Neurofibromatosis (NF) is a group of hereditary cancer syndromes where different gene mutations result in tumors developing in the central and peripheral nervous systems [1]. There are three different types of neurofibromatosis (NF1, NF2, and schwannomatosis), and each NF type has its own diagnostic criteria and clinical manifestations [1].

One important neurofibromatosis clinical manifestation is pain. For the past several years, the Neurofibromatosis Research Program (NFRP) has listed pain as an area of emphasis in its program funding opportunities, encouraging research applications aimed at addressing this critical need in the NF community.

Clinical presentation of pain is mainly associated with schwannomatosis. The predominant characteristic of both NF2 and schwannomatosis is the development of schwannomas, tumors in the Schwann cells wrapped around peripheral nerves. However, NF2 schwannomas are more commonly associated with neurological deficits. One retrospective study found that schwannomatosis patients’ most common symptom was chronic pain [1,2]. In addition, the 2011 International Schwannomatosis Workshop identified uncovering the mechanism of pain in schwannomatosis as a top research priority [3].

Read the full research summary and additional information on pain studies across all types of NF here.

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