Clinical evidence, diagnostic approach and challenging therapeutic modalities for malignant melanoma of the anorectum

Abstract Primary anorectal malignant melanoma (ARMM) is a rare, aggressive tumour that accounts for approximately 1.2% of all melanomas. This rare entity represents less than 5% of anorectal malignant tumours and 0.05–1% of all malignant colorectal neoplasms. The incidence increases with age while there is a higher prevalence in Caucasians. ARMM is often asymptomatic or presents with no disease‐specific evidence so that it can mimic other rectal disorders, malignant or benign. Colonoscopy is obligatory as a diagnosing mean for ARMM. Furthermore, endoscopic ultrasonography, computed tomography and magnetic resonance imaging can be utilized for the evaluation of tumour infiltration and lymph node metastases. Moreover, diagnostic establishment of ARMM requires an undeniable demonstration of essential melanocytic features in histology and immunohistochemistry. Even though the standard of treatment remains surgical resection, the choice between wide local excision and abdomino‐perineal resection is still controversial. Recently, there have been recommendations regarding new techniques which could be utilized for the surgical treatment of ARMM. Newer treatments that have been proposed such as immune‐checkpoint inhibitors and targeted therapies need further validation. A multicenter study would allow clarification of the most appropriate therapeutic strategy for this uncommon nosological entity.