Novel fusion gene THBS1::ERBB2 drives a subset of superficial acral fibromyxomas
Year: 2026
Type: article
Study design: Observational Study
Abstract: Superficial acral fibromyxoma (SAFM), is a rare, painful, solitary, slow-growing, benign soft tissue tumour of the acral regions, typically affecting the hands and feet; RB1 loss or deletions are commonly seen, but little is understood of the genetic drivers. As fusion genes are well-established drivers of several types of skin tumours, we collated a large, international, multi-institutional cohort of 66 patients with SAFM, and performed RNA pulldown transcriptome sequencing to ascertain the presence of fusion genes in this tumour type. Our study identified a novel gene fusion, THBS1::ERBB2, present in 12% of SAFM tumours, and associated with aberrant HER2 expression.
Source: British Journal of Dermatology
DOI: 10.1093/bjd/ljag100
Authors: Katharina Wiedemeyer, Martin Del Castillo Velasco-Herrera, Jamie Billington, Saamin Cheema, Kim Wong, Annie Cristhine Moraes Sousa-Squiavinato, Ian Vermes, Elizabeth Anderson, Mahema Khan, Emily L Clarke, William Merchant, Maximillian A Weigelt, Steven D Billings, Mark J Arends, Ahmed K Alomari, Carlos Monteagudo, Ingrid Ferreira, Thomas Brenn, Louise van der Weyden, David J Adams
Institutions: University of Michigan, Wellcome Sanger Institute, University of Leeds, Leeds Teaching Hospitals NHS Trust, Cleveland Clinic, Institute of Genetics and Cancer, University of Edinburgh, Indiana University Indianapolis, Indiana University School of Medicine, Universitat de València, Cliniques Universitaires Saint-Luc, UCLouvain
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7140092030