Primary melanomas of the anus and rectum are rare neoplasms with aggressive behavior, accounting for 0.1%-4.6% of anal canal tumors. Mucosal melanomas account for approximately 1.2% of all melanomas, of which fewer than 25% are anorectal. Histological evaluation with immunohistochemical stains like HMB-45, S-100, vimentin and Melan A is required for definitive diagnosis. The 5-year survival rate for anorectal melanomas (AM) was reported to be as low as < 20%, in contrast to the value of approximately 80% for cutaneous melanomas. Furthermore, up to 67% of patients are found to have distant metastases at the time of their initial diagnosis with AM. Since the chemotherapy treatment possibilities are limited, patients usually undergo mutation detection tests giving the opportunity of targeted therapy. Herein we report a case of a patient with anorectal melanoma, diagnosed in stage II and the pathomorphological and mutation status finding, together with their correlation to tumor behavior and patient prognosis.
Keywords: BRAF V600E; CD117; KIT; anorectal melanoma; melanoma.