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Updated: May 25, 2026
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Spatial and Temporal Control of Murine Melanoma Initiation from Mutant Melanocyte Stem Cells
Published on: June 7, 2019
Mutation analysis of BRAF and KIT in circulating melanoma cells at the single cell level
K Sakaizawa1, Y Goto, Y Kiniwa
1Department of Dermatology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan.
British Journal of Cancer
|January 28, 2012
Summary
Melanoma cell mutations in circulating tumor cells (CTCs) can differ from primary tumors. Genotyping CTCs is vital for effective targeted melanoma therapy due to clonal heterogeneity.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Molecular-targeted therapies for melanoma require identification of mutations in genes like BRAF and KIT.
- Circulating tumor cells (CTCs) are detectable in the blood of many cancer patients.
Purpose of the Study:
- To investigate the utility of genotyping circulating tumor cells (CTCs) for identifying melanoma mutations.
- To assess the concordance of BRAF and KIT mutations between CTCs and primary tumors.
Main Methods:
- Isolated melanoma cells from peripheral blood using immunomagnetic beads targeting high molecular weight melanoma-associated antigen (HMW-MAA).
- Identified CTCs by staining for MART-1 and gp100 after excluding CD45+ cells.
- Performed BRAF and KIT mutational analysis on isolated single CTCs.
Main Results:
- CTCs were isolated from 11 patients; BRAF and KIT sequencing were performed on 9 and 4 patients, respectively.
- Discrepancies in BRAF and KIT mutations were observed between CTCs and autologous tumors in multiple patients.
- Polyclonal BRAF mutations and concomitant BRAF/KIT mutations were detected in CTCs.
Conclusions:
- Melanoma exhibits clonal heterogeneity, with genetic variations observed within circulating tumor cells.
- Genotyping of CTCs is essential for accurate molecular profiling and guiding targeted melanoma treatment.
