Study on the Significance of Braf V600e Mutations in Melanoma Patients at a Tertiary Cancer Care Centre in Southern India

Background: Melanoma arises from the malignant transformation of melanocytes which are derivatives of neural crest cells. The most common location of melanoma is hair follicle bearing skin giving rise to cutaneous melanomas. There is enough evidence to suggest that MAPK activation by point mutations in at least 70% of melanomas. According to WHO the number of Melanoma cases is increasing faster. Melanomas are relatively rare in Indian context. The literature on BRAF mutation analysis is rarer in both local disease and metastatic disease context. Methods: We conducted a prospective observational study for duration of one year from January 2024 till December 2024 at a tertiary cancer centre in southern India. A total of 54 patients in local and metastatic disease were included in the study. After taking ethical committee clearance and informed consent clinical and pathological characteristics were noted. BRAF V600E mutation analysis was done by PCR method. Mutation positive and negative patienst were correlated for various parameters. Results: Of the 54 patients majority belonged to less than 60 years with median age at diagnosis being 49 years. There was a slight Male predominance in our study. The most common type of disease was cutaneous melanoma followed by mucosal melanoma (22 and 20). 31 cases presented with stage 4 disease comprising about 57.4%. The most common IHC marker positive on the specimens was S100 (94.4%). On analysis BRAF V600E Mutation analysis majority a total of 14 patients tested positive. On correlation of Ki67 status and BRAF mutation analysis, 8 patients who were positive for mutation had higher ki67 that is >40%, this was statistically signicant. Conclusion: Melanoma is a rare subset of cancer among Indian subcontinent which usually present at advanced stages and is associated with poorer prognosis. BRAF mutation is present in about 1 in every 4 diagnosed cases of melanoma. BRAF mutation is more common in advanced stage and has higher Ki67. Immune checkpoint inhibitors and Targeted therapy form main stay of treatment.