Primary anorectal amelanotic melanoma with liver, lungs and lymph nodal metastases

BMJ Case Rep. 2023 Nov 17;16(11):e257510. doi: 10.1136/bcr-2023-257510.

Abstract

Anorectal melanoma (ARM) is an exceedingly rare and very aggressive malignancy. It originates from the melanocytic cells in the anorectal mucosa, which produces melanin. Other mucosal melanomas commonly found in the mucosa of the oral cavity, vulvovaginal, pharynx and urinary tract. Patients usually present with bleeding per rectum, perianal pain and difficulty in defaecation. Distinction of primary anorectal melanoma from other tumours of this region is difficult because of the lack of common imaging features. MRI is the modality of choice for its better tissue characterisation and resolution. There is no standard treatment protocol available mainly due to scarcity of data. Surgery is the mainstay therapy. Herein we present a case of a male patient in his 30s who presented with rectal bleeding and perianal pain. Haematological analysis revealed normocytic normochromic anaemia. MRI detected a mass lesion in the anorectal region. Contrast enhanced CT revealed multiple metastases in the liver, lungs, periportal, mesorectal and inguinal lymph nodes. The diagnosis of the ulcerated anorectal melanoma was established on histopathological examination. The patient underwent abdominoperineal resection (APR) followed by chemotherapy. Afterward the patient presented to the emergency room with respiratory distress for which he was on ventilator support. Sadly, the patient died after four days.

Keywords: Colon cancer; Gastroenterology; Radiology.

Publication types

  • Case Reports

MeSH terms

  • Gastrointestinal Hemorrhage
  • Humans
  • Liver / pathology
  • Lung / pathology
  • Male
  • Melanoma, Amelanotic* / diagnosis
  • Melanoma, Amelanotic* / pathology
  • Melanoma, Amelanotic* / surgery
  • Melanoma, Cutaneous Malignant
  • Pain
  • Rectal Neoplasms* / pathology
  • Skin Neoplasms* / pathology