A novel fusion gene identified in metastatic melanoma associated with malignant transformation of a giant congenital melanocytic naevus
Abstract
GCMN is a major risk factor for melanoma in children, which occurs sporadically, but familial cases are rarely reported. Whole-genome sequencing results revealed the presence of a G3BP1–BRAF fusion in tumour tissue in our case. We hope that this case provides some reference for the diagnosis, prognosis and individualized treatment of newborn patients with GCMN.
Fields of Study & Subjects
Cutaneous Melanoma Detection and Management
Melanoma and MAPK Pathways
Neurofibromatosis and Schwannoma Cases
Publication details
- Journal / source
- British Journal of Dermatology
- Volume
- 194
- Issue
- 5
- Pages
- 994–997
- Publication date
- 14 January 2026
- Language
- EN