Novel fusion gene <i>THBS1::ERBB2</i> drives a subset of superficial acral fibromyxomas

Superficial acral fibromyxoma (SAFM), is a painful, solitary, slow-growing, benign soft tissue tumour of the acral regions, typically affecting the hands and feet, for which we have little understanding 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 SAFM (n=66), and performed RNA pulldown transcriptome sequencing (RNAseq) to ascertain the presence of fusion genes in this tumour type. Our study identified a novel fusion gene driver, THBS1::ERBB2, in a subset of SAFM (12% cases) that was associated with aberrant HER2 expression.

Authors

Institutions

Publication Details

Journal
British Journal of Dermatology
Published
2026-03-20
DOI
https://doi.org/10.1093/bjd/ljag100
Primary Topic
Cancer and Skin Lesions
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

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

Thomas Brenn, Saamin Cheema, Kim Ping Wong, Ian Vermes et al.
British Journal of Dermatology
Cancer and Skin Lesions
article

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

Thomas Brenn, Saamin Cheema, Kim Ping Wong, Ian Vermes, Carlos Couceiro Monteagudo, Katharina Wiedemeyer, Maximillian A. Weigelt, David J. Adams, William Merchant, Jamie Billington, MJ Arends, Ahmed K. Alomari, Annie Cristhine Moraes Sousa-Squiavinato, Martin Del Castillo Velasco-Herrera, Ingrid Ferreira, Louise van der Weyden, Emily L Clarke, Steven D Billings, Mahema Khan, Elizabeth Anderson
article en

Abstract

Superficial acral fibromyxoma (SAFM), is a painful, solitary, slow-growing, benign soft tissue tumour of the acral regions, typically affecting the hands and feet, for which we have little understanding 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 SAFM (n=66), and performed RNA pulldown transcriptome sequencing (RNAseq) to ascertain the presence of fusion genes in this tumour type. Our study identified a novel fusion gene driver, THBS1::ERBB2, in a subset of SAFM (12% cases) that was associated with aberrant HER2 expression.

British Journal of Dermatology
University of Leeds (GB), Cliniques Universitaires Saint-Luc (BE), Cleveland Clinic (US), Universitat de València (ES), University of Michigan (US), Leeds Teaching Hospitals NHS Trust (GB), Wellcome Sanger Institute (GB), Edinburgh Cancer Research (GB), Biomedical Research Institute (US), INCLIVA Health Research Institute (ES), Indiana University School of Medicine, Indiana University – Purdue University Indianapolis (US)
Openalex Percentile: Top 12%
Cancer and Skin Lesions
DOIOpen Access PDFOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.