Cellular neurothekeoma is driven by copy number deletions, providing potential diagnostic and therapeutic avenues
(2026) British Journal of Dermatology — Vol. 194, n° 3, p. 593-595 (2026)
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Cellular_neurothekeoma_is_driven_by_copy_number_deletions_providing_potential_diagnostic_and_therapeutic_avenues.pdf
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- Authors
Del Castillo Velasco-Herrera, Martin 
Adams, David J
- Abstract
- (en) Dear Editor, To date our knowledge of the genomic landscape of cellular neurothekeoma (cNTK) remains incomplete, with only microarray analysis of differentially expressed genes between neurothekeomas and nerve sheath myxomas, or case reports of targeted sequencing or whole-exome sequencing (WES) performed on individual patients. These cases reported somatic mutations in PI3K, ALK, SMO and ERBB3 in a patient with cNTK, a somatic mutation in NF1 in a patient with atypical cNTK and a somatic mutation in FLCN in a patient with a cutaneous plexiform hybrid tumour of perineurioma and cNTK. [...]
- Affiliations
Wellcome Sanger Institute Experimental Cancer Genetics
Citations
Sousa-Squiavinato, A. C. M., Billington, J., Del Castillo Velasco-Herrera, M., Wong, K., Cheema, S., Vermes, I., Anderson, E., Vasisht, A., Harms, P. W., Clarke, E. L., Merchant, W., Weigelt, M. A., Billings, S. D., Monteagudo, C., Alomari, A. K., Arends, M. J., Wiedemeyer, K., Ferreira de Castro Moutinho, I., Brenn, T., et al. (2026). Cellular neurothekeoma is driven by copy number deletions, providing potential diagnostic and therapeutic avenues. British Journal of Dermatology, 194(3), 593-595. https://doi.org/10.1093/bjd/ljaf487 (Original work published 2026)