Double nonallelic somatic activating oncogene variants in a series of mosaic vascular anomalies
We performed deep next-generation sequencing using a 55-gene panel in 590 affected tissue samples from 549 patients referred for various cutaneous birthmarks, mostly vascular anomalies. We confirm that double variants in tissue from vascular anomalies are a rare event. We report the clinical features of eight patients with double variants and discuss their clinical significance and impact on treatment options.
Authors
- S. Mallet (ORCID: https://orcid.org/0000-0003-2884-0645)
- Victor Coste
- Juliette Piard (ORCID: https://orcid.org/0000-0001-5244-5325)
- Christel Thauvin‐Robinet (ORCID: https://orcid.org/0000-0002-4155-139X)
- Paul Kuentz (ORCID: https://orcid.org/0000-0003-2814-6303)
- Bérengère Dadone‐Montaudié (ORCID: https://orcid.org/0000-0002-0339-4602)
- Laurence Olivier Faivre (ORCID: https://orcid.org/0000-0001-9770-444X)
- Thomas Hubiche (ORCID: https://orcid.org/0000-0002-3247-7386)
- Jéhanne Martel (ORCID: https://orcid.org/0000-0003-4393-5239)
- B. Bonniaud
- O. Boccara (ORCID: https://orcid.org/0000-0003-3508-2539)
- P. Vabres (ORCID: https://orcid.org/0000-0001-8693-3183)
- Salima El Chehadeh (ORCID: https://orcid.org/0000-0003-1613-6570)
- E. Puzenat
- M. Severino‐Freire (ORCID: https://orcid.org/0000-0003-4122-6623)
- A. Maruani (ORCID: https://orcid.org/0000-0003-3734-810X)
- Daniel Amsallem
Institutions
- Centre National de la Recherche Scientifique (FR)
- St Thomas' Hospital (GB)
- Inserm (FR)
- Centre Hospitalier Universitaire de Nice (FR)
- Centre Hospitalier Universitaire de Besançon (FR)
- Centre Hospitalier Universitaire de Tours (FR)
- CHU Dijon Bourgogne (FR)
- Hôpital l'Archet (FR)
- Institut de Recherche sur le Cancer et le Vieillissement de Nice (FR)
- Hôpital Larrey (FR)
- Délégation Provence et Corse (FR)
- Centre de recherche Translationnelle en Médecine moléculaire (FR)
- Hôpitaux Universitaires de Strasbourg (FR)
- Expression Génétique Microbienne (FR)
- Université Marie et Louis Pasteur (FR)
- Université de Strasbourg (FR)
- Université de Franche-Comté (FR)
Publication Details
- Journal
- British Journal of Dermatology
- Published
- 2025-08-28
- DOI
- https://doi.org/10.1093/bjd/ljaf344
- Primary Topic
- Tumors and Oncological Cases
- Type
- article
- Field-Weighted Citation Impact
- 0.00