BRAF Mutation Analysis in Primary Acral Melanoma of 41 Cases from South of Iran

Acral melanoma (AM) is a common type of cutaneous melanoma that occurs in the skin of the palms, soles, and nail beds. This malignancy, like other types of cancer, has different genetic alterations. To date, despite decades of research the roles of oncogenic BRAF mutations in the pathogenesis of AM has not been fully clarified. The present study was designed to identify V600E mutation in patients with AM from the south of Iran. 

The samples were collected from the pathology lab archive of Shiraz University of Medical Sciences (2015-2020). A total of 41 patients with primary invasive AM underwent excisional biopsy or amputation were collected to evaluate BRAF V600E mutation using Polymerase Chain Reaction (PCR) and Sanger sequencing.

Total number of 41cases (21 male and 20 female) and age range of 34-87 years were enrolled. The histological subtypes were 24 acral lentiginous melanomas (ALM), 10 cases of nodular melanoma (NM), and 7 cases of superficial spreading melanoma (SSM). In our study, only one case (a 44-year-old male with nail bed AM and the histological subtype of acral lentigenous melanoma) showed BRAF-V600E mutation. 

These findings suggest that the population of our interest showed a very low prevalence of this mutation providing novel insights into the pathobiology of AM and its related treatment.