Metastatic malignant cylindroma arising on a background of digenic inheritance of <i>BRCA2</i> and <i>CYLD</i> pathogenic variants targeted with PARP inhibition
Digenic inheritance of pathogenic variants in cancer-predisposing genes should prompt clinicians to be vigilant for atypical malignant presentations. We demonstrate that rapid whole-genome sequencing can inform the treatment of metastatic malignant cylindroma and identify novel systemic therapies.
Authors
- Gene Ching Chiek Koh
- William Fostier (ORCID: https://orcid.org/0000-0003-3564-4933)
- Akhtar Husain (ORCID: https://orcid.org/0000-0001-8563-3859)
- Neil Rajan (ORCID: https://orcid.org/0000-0002-5850-5680)
- Yasin Memari (ORCID: https://orcid.org/0000-0002-1747-542X)
- Serena Nik‐Zainal (ORCID: https://orcid.org/0000-0001-5054-1727)
- Helen Davies (ORCID: https://orcid.org/0000-0001-6381-3664)
- Georgie Holt (ORCID: https://orcid.org/0000-0002-8123-2748)
- Shirin Namini
- Bipin Mathew (ORCID: https://orcid.org/0000-0002-5653-1316)
Institutions
- University of Cambridge (GB)
- Leeds Teaching Hospitals NHS Trust (GB)
- Royal Victoria Infirmary (GB)
- Clinical Research Institute (US)
- Cambridge School (PT)
- Bridge University (SS)
- University of Newcastle Australia (AU)
- Newcastle University (GB)
Publication Details
- Journal
- Clinical and Experimental Dermatology
- Published
- 2025-02-04
- DOI
- https://doi.org/10.1093/ced/llaf064
- Citations
- 1
- Primary Topic
- Cancer and Skin Lesions
- Type
- article
- Field-Weighted Citation Impact
- 2.00