肛门直肠原发性黑色素瘤--一例罕见病例报告及诊断难题。

IF 0.7 4区 医学 Q4 PATHOLOGY Polish Journal of Pathology Pub Date : 2023-01-01 DOI:10.5114/pjp.2023.133846
Gyanendra Singh, Anurag Singh
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引用次数: 0

摘要

肛门直肠黑色素瘤是一种异常罕见的侵袭性癌症。肛门直肠恶性肿瘤的百分之一是肛门直肠恶性黑色素瘤,这种肿瘤极为罕见。我们报告了一例 47 岁女性无痛性直肠出血的病例。检查时发现直肠后壁有一个不规则肿块,大小为 4 × 3.7 厘米。在内窥镜引导下进行了活组织形态学和免疫组化检查。活组织检查显示,肿瘤肿块在粘膜层和粘膜肌层中形成巢状。瘤块由圆形至椭圆形细胞组成,细胞核增大,核仁明显,胞浆稀少。肿瘤细胞中未见黑色素沉着。免疫组化法检测到 HMB-45、S-100 和波形蛋白。最终确诊为绒毛状恶性黑色素瘤。患者接受了腹部会阴部切除术、子宫切除术和双侧输卵管切除术。肛门直肠黑色素瘤表现为直肠出血,临床上常被误诊为内痔或腺癌。缺乏黑色素的黑色素瘤很难诊断。出现直肠出血的患者应将恶性黑色素瘤作为可能的鉴别诊断进行评估,并进行适当的诊断程序,如结肠镜检查和免疫组化活检,以得出最终诊断。
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Primary amelanotic melanoma of anorectum - a rare case report with diagnostic challenge.

Anorectal melanoma is an exceptionally rare and aggressive form of cancer. One per cent of anorectal malignant tumours are anorectal malignant melanomas, which are exceedingly uncommon. We report a case of a 47-year-old woman who experienced painless rectal bleeding. On examination, an irregular lump was seen in the posterior rectal wall, measuring 4 × 3.7 cm. Biopsies were obtained under endoscopic guidance for histomorphology and immunohistochemistry. The biopsy examination showed nests of tumour mass in the lamina and muscularis mucosae. The tumour mass was composed of round to oval cells having enlarged nuclei, conspicuous nucleoli, and a scant amount of cytoplasm. No melanin pigmentation was noted in the tumour cells. HMB-45, S-100, and vimentin were all detected by immunohistochemistry. A definitive diagnosis of amelanotic malignant melanoma was rendered. The patient underwent abdominoperineal resection with a hysterectomy and bilateral salpingo-oophorectomy. Anorectal melanoma presents with bleeding per rectum and is often misdiagnosed as internal haemorrhoids or adenocarcinoma clinically. Amelanotic melanoma, which lacks melanin pigment, is difficult to diagnose. Patients who appear with rectal bleeding should have a malignant melanoma evaluation as a possible differential diagnosis, and suitable diagnostic procedures, such as a colonoscopy and a biopsy with immunohistochemistry, should be carried out to arrive at a conclusive diagnosis.

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来源期刊
CiteScore
1.00
自引率
0.00%
发文量
21
审稿时长
>12 weeks
期刊介绍: Polish Journal of Pathology is an official magazine of the Polish Association of Pathologists and the Polish Branch of the International Academy of Pathology. For the last 18 years of its presence on the market it has published more than 360 original papers and scientific reports, often quoted in reviewed foreign magazines. A new extended Scientific Board of the quarterly magazine comprises people with recognised achievements in pathomorphology and biology, including molecular biology and cytogenetics, as well as clinical oncology. Polish scientists who are working abroad and are international authorities have also been invited. Apart from presenting scientific reports, the magazine will also play a didactic and training role.
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