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原发性肛管无黑色素性黑色素瘤伴肝、肺及淋巴结转移。

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

作者信息

Marak James R, Raj Gaurav, Dwivedi Shivam, Zaidi Ariba

机构信息

Radiodiagnosis, Dr Ram Manohar Lohia Institute of Medical Sciences, Lucknow, India

Radiodiagnosis, Dr Ram Manohar Lohia Institute of Medical Sciences, Lucknow, India.

出版信息

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

DOI:10.1136/bcr-2023-257510
PMID:37977845
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10660163/
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.

摘要

肛管直肠黑色素瘤(ARM)是一种极其罕见且侵袭性很强的恶性肿瘤。它起源于肛管直肠黏膜中的黑素细胞,这些细胞会产生黑色素。其他黏膜黑色素瘤常见于口腔、外阴阴道、咽部和泌尿道的黏膜。患者通常表现为直肠出血、肛周疼痛和排便困难。由于缺乏常见的影像学特征,将原发性肛管直肠黑色素瘤与该区域的其他肿瘤区分开来很困难。MRI因其更好的组织特征显示和分辨率而成为首选的检查方式。主要由于数据稀缺,目前尚无标准的治疗方案。手术是主要的治疗方法。在此,我们报告一例30多岁男性患者,其表现为直肠出血和肛周疼痛。血液学分析显示正细胞正色素性贫血。MRI检测到肛管直肠区域有一个肿块病变。增强CT显示肝脏、肺、门静脉周围、直肠系膜和腹股沟淋巴结有多处转移。经组织病理学检查确诊为溃疡性肛管直肠黑色素瘤。该患者接受了腹会阴联合切除术(APR),随后进行化疗。之后,患者因呼吸窘迫被送往急诊室,接受呼吸机支持。遗憾的是,患者四天后死亡。

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Melanoma Res. 2024 Dec 1;34(6):487-496. doi: 10.1097/CMR.0000000000001003. Epub 2024 Oct 4.

本文引用的文献

1
Anorectal malignant melanoma: MRI findings with pathological correlation.肛管直肠恶性黑色素瘤:MRI表现与病理对照
BMJ Case Rep. 2021 Nov 11;14(11):e247421. doi: 10.1136/bcr-2021-247421.
2
Anorectal Mucosal Melanoma: A Case Report and Literature Review.直肠黏膜黑色素瘤 1 例报告并文献复习
Am J Case Rep. 2021 Oct 26;22:e933032. doi: 10.12659/AJCR.933032.
3
Malignant Melanoma of Anorectum: Two Case Reports.直肠恶性黑色素瘤:两例报告
Ann Coloproctol. 2021 Feb;37(1):65-70. doi: 10.3393/ac.2020.01.07.1. Epub 2021 Feb 28.
4
Ano-uro-genital mucosal melanoma UK national guidelines.肛门-泌尿生殖黏膜黑色素瘤英国国家指南。
Eur J Cancer. 2020 Aug;135:22-30. doi: 10.1016/j.ejca.2020.04.030. Epub 2020 Jun 9.
5
Management and outcomes of primary anorectal melanoma in the United States.美国原发性肛门直肠黑色素瘤的治疗与结局。
Future Oncol. 2020 Mar;16(8):329-338. doi: 10.2217/fon-2019-0715. Epub 2020 Feb 18.
6
Correction to: Frequent genetic aberrations in the cell cycle related genes in mucosal melanoma indicate the potential for targeted therapy.对《黏膜黑色素瘤细胞周期相关基因的频繁遗传畸变表明靶向治疗的潜力》的更正
J Transl Med. 2019 Nov 5;17(1):358. doi: 10.1186/s12967-019-2106-x.
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Anorectal mucosal melanoma.肛管直肠黏膜黑色素瘤
Oncotarget. 2018 Jan 2;9(9):8785-8800. doi: 10.18632/oncotarget.23835. eCollection 2018 Feb 2.
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AACR Project GENIE: Powering Precision Medicine through an International Consortium.美国癌症研究协会(AACR)项目GENIE:通过国际联盟推动精准医学发展。
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Melanoma Res. 2017 Jun;27(3):189-199. doi: 10.1097/CMR.0000000000000345.