This case report highlights the diagnosis and treatment of anorectal melanoma, underlining the importance of early detection.
Anorectal melanoma (AM) is an uncommon and potentially fatal form of melanoma. It occurs in the anal canal or rectum, representing approximately 1%–2% of all melanomas. The incidence of AM has been rising, likely due to improved diagnostic techniques and increased awareness. Unlike cutaneous melanoma, AM often presents at an advanced stage, with symptoms such as discomfort, changes in bowel habits, and rectal bleeding. With a high index of suspicion required due to its nonspecific presentation, the diagnosis usually consists of a combination of physical examination, imaging studies, and histological analysis. Histologically, AM can be challenging to differentiate from other neoplasms, necessitating the use of immunohistochemical markers. Treatment primarily involves surgical excision; however, the prognosis is still dismal because of the aggressive character of the disease; the anticipated 5-year survival rate is about 30%. Research is being done on adjuvant therapy, such as radiation and systemic therapy, with limited efficacy reported. Emerging therapies targeting specific molecular pathways may offer new hope for improved outcomes. Given the rarity of this condition, large-scale studies are limited, and much remains to be understood regarding its pathogenesis, optimal management strategies, and the role of immunotherapy. Increased awareness among healthcare professionals and patients is crucial for early detection and intervention. In this case, the patient was diagnosed timely with sigmoidoscopy and biopsy and underwent laparoscopic abdominoperineal resection and end colostomy followed by adjuvant chemotherapy and immunotherapy.
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Balika et al. (2025) studied this question.
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