Study identifies KRASG12V variant in localized hypertrophic neuropathy, suggesting RAS-MAPK dysregulation as a therapeutic target with selumetinib.
Background/Purpose: Localized hypertrophic neuropathy (LHN) is a neoplastic disease characterized by hypertrophy of single peripheral nerves. Affecting spinal nerve roots, it can mimic plexiform neurofibroma (PN) growth. Since pathogenic somatic KRAS variants have been identified in biopsies from LHN patients, it is supposed that LHN is caused by dysregulation of the RAS-MAPK-signaling pathway and subsequent hyperproliferation of neural cells. Therefore, RAS-induced LHN might be a novel therapeutic target for the MEK inhibitor selumetinib in addition to the approved use for NF1-associated PN.
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Vaassen et al. (2025) studied this question.
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