Cellular neurothekeoma is driven by copy number deletions, providing potential diagnostic and therapeutic avenues
To date our knowledge of the genomic landscape of cellular neurothekeoma (cNTK) remains incomplete. Thus, in order to comprehensively elucidate the mutational profile of this rare tumour type and identify driver events, we sequenced DNA (whole-exome sequencing) and RNA (pulldown transcriptome) from an international, multi-institutional cohort of cNTK tumour-normal pairs (n = 20). We identified copy number (CN) alterations as a driver event of this tumour type, with the most recurrent CN alteration being a deletion on 9p21.3 that encompassed MTAP and the C-terminal exons of CDKN2A.
Authors
- Thomas Brenn (ORCID: https://orcid.org/0000-0002-0089-0352)
- Emily L. Clarke (ORCID: https://orcid.org/0000-0001-7106-9898)
- Saamin Cheema (ORCID: https://orcid.org/0000-0002-5297-2042)
- Mark J. Arends (ORCID: https://orcid.org/0000-0002-6826-8770)
- Ian Vermes
- Martin Del Castillo Velasco‐Herrera (ORCID: https://orcid.org/0000-0001-5956-0211)
- Louise van der Weyden (ORCID: https://orcid.org/0000-0002-0645-1879)
- Steven D. Billings (ORCID: https://orcid.org/0000-0002-2278-5908)
- Carlos Couceiro Monteagudo (ORCID: https://orcid.org/0000-0002-9381-9976)
- Katharina Wiedemeyer (ORCID: https://orcid.org/0000-0002-0754-2393)
- Ingrid Ferreira (ORCID: https://orcid.org/0000-0002-4321-5250)
- Paul W. Harms (ORCID: https://orcid.org/0000-0002-0802-2883)
- Annie Cristhine Moraes Sousa‐Squiavinato (ORCID: https://orcid.org/0000-0003-0345-1571)
- Kim Wong (ORCID: https://orcid.org/0000-0002-0984-1477)
- Maximillian A. Weigelt (ORCID: https://orcid.org/0000-0001-9375-4466)
- Ahmed Al‐Omari (ORCID: https://orcid.org/0000-0002-3776-5053)
- Elizabeth Anderson (ORCID: https://orcid.org/0000-0002-6210-8653)
- David J. Adams (ORCID: https://orcid.org/0000-0001-9490-0306)
- William Merchant
- Jamie Billington
- Anshul Vasisht
Institutions
- University of Leeds (GB)
- 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)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2025-12-06
- DOI
- https://doi.org/10.1093/bjd/ljaf487
- Citations
- 1
- Primary Topic
- Neurofibromatosis and Schwannoma Cases
- Type
- article
- Field-Weighted Citation Impact
- 1.39