Study Ties 48% Cherry Angioma Rate in NF1 Patients to Biallelic NF1 Loss
Updated
Updated · Medscape · Aug 19
Study Ties 48% Cherry Angioma Rate in NF1 Patients to Biallelic NF1 Loss
1 articles · Updated · Medscape · Aug 19
Summary
Cherry angiomas appeared in 48% of 102 adults with neurofibromatosis type 1 versus 18% of 157 controls, with an adjusted odds ratio of 10.79 in the prospective hospital study.
Genetic analysis linked those lesions to NF1-driven vascular changes: 26 of 39 NF1-associated angiomas carried somatic NF1 second-hit mutations, while none of the control lesions did.
Cell-specific sequencing placed those second hits mainly in endothelial cells and telocytes—seen in five of six and four of six lesions, respectively—and staining showed increased phospho-ERK signaling in both cell types.
Broader profiling found cooperating mutations in 12 of 17 lesions, including GNAQ codon 209 variants in five, while 71% also showed UV-related mutational signatures.
The authors said the findings recast cherry angiomas as a previously unrecognized vascular manifestation of NF1 and suggest other NF1-related vasculopathies may arise through similar mechanisms.