Background: Anorectal melanoma (AM) is a rare and aggressive type of tumor, with varied and inconclusive scientific information. Its preoperative diagnosis is challenging due to its rarity and similarity to other anorectal conditions. It represents only 1.3% of melanomas and affects more women than men. Approximately 20-30% of AM cases are amelanotic, complicating endoscopic detection and leading to misdiagnoses. AM is often confused with hemorrhoids, polyps, and rectal cancer in two thirds of patients due to similar symptoms. The causes and risk factors of AM are not well understood, but they are suspected to differ from cutaneous and ocular melanomas. Diagnosis is performed through biopsy and immunohistochemical staining. Colonoscopy helps to characterize the lesions, and histological examination is crucial for definitive diagnosis.
Clinical Case: 50-year-old woman with rectal bleeding and proctalgia. AM was diagnosed through colonoscopy, and transanal resection with hemorrhoidectomy was performed.
Conclusions: Management of AM is complicated by the lack of randomized trials. Resection surgery is the standard treatment, but there is no established protocol. Wide local excision may be an option for limited cases. Further research is needed to improve the management and treatment of AM. Early detection and complete surgical removal are crucial for enhancing survival in these patients.
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http://dx.doi.org/10.5281/zenodo.10278175 | DOI Listing |
Cancer Rep (Hoboken)
January 2025
Department of Medical Oncology, Hematology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.
Introduction: With the use of immune checkpoint inhibitors (ICIs) and targeted therapies, the clinical outcomes of metastatic melanoma have drastically improved. The current scenario has reduced the use of chemotherapy as a first-line treatment. We report an interesting case of a patient with stage IV ano-rectal canal malignant melanoma with an exceptional response to single-agent temozolomide.
View Article and Find Full Text PDFTech Coloproctol
January 2025
Department of Surgical Sciences, University of Turin, Turin, Italy.
Introduction: Anorectal melanoma (ARM) is rare and highly lethal neoplasm. It has a poorer prognosis compared with cutaneous ones. Sentinel lymph node biopsy (SLNB) has become the preferred method of nodal staging method for cutaneous melanoma.
View Article and Find Full Text PDFMol Diagn Ther
December 2024
Comprehensive Cancer Center, University of Maastricht, Maastricht University Medical Center, P. Debyelaan 25, 6229 HX, Maastricht, The Netherlands.
Introduction: Anorectal melanoma is a rare neoplasm with an aggressive behavior and poor prognosis. Recently, recurrent gene mutations related to anorectal melanoma have been identified in a small series of cases, and this holds promise for targeted therapies, analogous to cutaneous melanoma. The purpose of this study was to analyze testing rates and prevalence of mutations in anorectal melanoma in the Dutch population.
View Article and Find Full Text PDFACG Case Rep J
January 2025
Division of Gastroenterology and Hepatology, Mayo Clinic, Jacksonville, FL.
Anorectal mucosal melanoma (ARMM) is exceptionally rare, highly malignant, and characterized by a poor prognosis. We present the case of a 76-year-old woman with ARMM and recurrent gastrointestinal (GI) bleeding/anemia caused by small-bowel metastases, which was successfully managed with laparoscopic resection. ARMM is an aggressive type of cancer that has the potential to metastasize to the GI tract approximately 4.
View Article and Find Full Text PDFInt J Surg Case Rep
January 2025
Surgical Oncology Department, Regional Oncology Center, Mohammed VI University Hospital, Oujda, Morocco; Mohammed First University Oujda, Faculty of Medicine and Pharmacy Oujda, Oujda, Morocco.
Introduction: Anorectal melanoma (AM) is a rare and aggressive type of cancer. Its symptoms often resemble those of common benign anal conditions, such as hemorrhoids, leading to frequent delays in diagnosis. Consequently, about one-third of patients have metastases at the time of their initial diagnosis.
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