Novel fusion gene THBS1::ERBB2 drives a subset of superficial acral fibromyxomas

Wiedemeyer, Katharina;Del Castillo Velasco-Herrera, Martin;Billington, Jamie;Cheema, Saamin;Adams, David J;et.al.
(2026) British Journal of Dermatology — Vol. 194, n° 6, p. 1185-1187 (2026)

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Authors
  • Wiedemeyer, KatharinaDepartments of Pathology and Dermatology, University of Michigan , Ann Arbor, MI ,
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  • Del Castillo Velasco-Herrera, Martinorcid-logoWellcome Sanger Institute , Wellcome Genome Campus, Cambridge ,
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  • Billington, JamieWellcome Sanger Institute , Wellcome Genome Campus, Cambridge ,
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  • Cheema, Saaminorcid-logoWellcome Sanger Institute , Wellcome Genome Campus, Cambridge ,
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  • Ferreira de Castro Moutinho, IngridUCLouvain
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  • Adams, David Jorcid-logoWellcome Sanger Institute , Wellcome Genome Campus, Cambridge ,
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Abstract
(en) Dear Editor, Superficial acral fibromyxoma (SAFM), is a painful, solitary, slowgrowing, benign soft tissue tumour of the acral regions, typically affecting the hands and feet, for which we have little understanding of the genetic drivers. The two molecular investigations to-date have revealed loss of RB1 by immunohistochemistry (9/10 cases) and fluorescence in situ hybridization (7/7 cases), suggesting RB1 deficiency as a possible driver event of SAFM, and an absence of GNAS1 exon 8 or 9 mutations (0/8 cases), distinguishing SAFM from cellular myxoma. [...]
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Wiedemeyer, K., Del Castillo Velasco-Herrera, M., Billington, J., Cheema, S., Wong, K., Sousa-Squiavinato, A. C. M., Vermes, I., Anderson, E., Khan, M., Clarke, E. L., Merchant, W., Weigelt, M. A., Billings, S. D., Arends, M. J., Alomari, A., Monteagudo, C., Ferreira de Castro Moutinho, I., Brenn, T., van der Weyden, L., & Adams, D. J. (2026). Novel fusion gene THBS1::ERBB2 drives a subset of superficial acral fibromyxomas. British Journal of Dermatology, 194(6), 1185-1187. https://doi.org/10.1093/bjd/ljag100 (Original work published 2026)