Difficulties in diagnosing anorectal melanoma: A case report and review of the literature  

作　　者：Raluca Cristina Apostu Elena Stefanescu Radu Razvan Scurtu Gabriel Kacso Radu Drasovean 

机构地区：[1]Department of Surgery,"Iuliu Hatieganu"University of Medicine and Pharmacy,Cluj-Napoca 400006,Romania [2]Department of Anesthesia and Intensive Care,Emergency County Clinical Hospital,Cluj-Napoca 400006,Romania [3]Department of Surgery,University of Medicine and Pharmacy"Iuliu Hatieganu"Cluj-Napoca,Cluj Napoca 400006,Romania [4]Department of Medical Oncology and Radiotherapy,“Iuliu Hatieganu”University of Medicine and Pharmacy,Cluj-Napoca 400006,Romania

出　　处：《World Journal of Clinical Cases》2021年第36期11369-11381,共13页世界临床病例杂志

摘　　要：BACKGROUND Anorectal melanoma is a tumour that is difficult to identify due to its rarity and variability of presentation.Insufficient data published in the literature do not allow for diagnostic and treatment guidelines to be established.Anorectal melanoma has the worst prognosis among mucosal melanomas and is frequently misdiagnosed by standard identification methods.CASE SUMMARY A 66-year-old woman presented with intermittent anal bleeding,pain,and tenesmus in the past month,with no associated weight loss.Colonoscopy revealed a cauliflower-like tumour with a diameter of 1.5 cm,with exulcerated areas and an adherent clot but without obstruction.Biopsy results identified an inflammatory rectal polyp with nonspecific chronic rectitis.Tumour markers CA 19-9 and CEA were within the normal range.After 6 mo,due to the persistence of symptoms,a pelvic magnetic resonance imaging scan was performed.A lesion measuring 2.8 cm×2.7 cm×2.1 cm was identified at the anorectal junction,along with two adjacent lymphadenopathies.No distant metastases were detected.Immunohistochemistry was performed on the second set of biopsies,and a diagnosis of anorectal melanoma was established.Surgical treatment by abdominoperineal resection was performed.Evolution was marked by the appearance of lung metastases at 1 mo postoperatively,detected on a positron emission tomography-computer tomography scan,and perineal recurrence after 5 mo.After molecular testing,the patient was included in an immunotherapy trial.CONCLUSION This case highlights the difficulty of establishing a definitive early diagnosis of anorectal melanoma,the importance of performing histological analysis on a wellrepresented biopsy specimen,and the poor prognosis,even with radical surgery.

关 键 词：Mucosal melanoma ANORECTAL IMMUNOHISTOCHEMISTRY MELANOCYTES Molecular targeted therapy Case report 

分 类 号：R735.37[医药卫生—肿瘤]