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家族性腺瘤性息肉病合并穹窿型腺癌:1例报告及文献复习

Family adenomatous polyposis come across dome type adenocarcinoma: a case report and literature review.

作者信息

Chang Ying-Ying, Zhang Xiao-Long, Wang Yao-Hui, Ling Ting-Sheng

机构信息

Digestive Endoscopy Center, Affiliated Hospital of Nanjing University of Chinese Medicine, Jiangsu Province Hospital of Chinese Medicine, Nanjing, Jiangsu Province, 210046, China.

Department of Pathology, Affiliated Hospital of Nanjing University of Chinese Medicine, Jiangsu Province Hospital of Chinese Medicine, Nanjing, Jiangsu Province, 210046, China.

出版信息

Diagn Pathol. 2025 Apr 17;20(1):47. doi: 10.1186/s13000-025-01633-2.

Abstract

Dome-type carcinoma (DC), also referred as Gut-associated lymphoid tissue (GALT) carcinoma, is a rare variant of colorectal adenocarcinoma which has been seldomly reported up to now. We report a case of a DC lesion developed in a 33-year-old male diagnosed with family adenomatous polyposis (FAP). A 1.5 × 1.5 cm well-demarcated lesion exhibited a 0-Is + IIc figure was detected near the anastomotic stoma during regular colonoscopic polypectomy. Surgical specimen showed well-differentiated adenocarcinoma consisted of dilated cystic glands and the lymphoid stroma with reactive germinal centers exhibited a destructive manner of infiltration into SM2 level. The immunohistochemical findings revealed MUC1 positive but MUC2 negative of the carcinomas epithelial which retained all the 4 mismatch repair proteins (MMRs) (MLH1, PMS2, MSH2, and MSH6) and was negative for EBV-encoded small RNA-1 (EBER). Considered a rare category of colorectal adenocarcinoma, more cases will help uncover the nature of GALT/dome-type carcinoma. Clinicians and pathologists should be aware of recognizing this special type of carcinoma and making necessary differential diagnostics.

摘要

穹窿型癌(DC),也被称为肠道相关淋巴组织(GALT)癌,是结直肠癌的一种罕见变体,迄今为止鲜有报道。我们报告一例发生在一名33岁诊断为家族性腺瘤性息肉病(FAP)男性患者身上的DC病变。在常规结肠镜息肉切除术中,在吻合口附近发现一个1.5×1.5厘米边界清晰的病变,呈现0-Is + IIc形态。手术标本显示为高分化腺癌,由扩张的囊性腺体组成,伴有反应性生发中心的淋巴间质呈浸润性破坏至SM2层。免疫组化结果显示,癌上皮MUC1阳性但MUC2阴性,保留了所有4种错配修复蛋白(MMR)(MLH1、PMS2、MSH2和MSH6),EBV编码的小RNA-1(EBER)阴性。作为结直肠癌的一种罕见类型,更多病例将有助于揭示GALT/穹窿型癌的本质。临床医生和病理学家应注意识别这种特殊类型的癌症并进行必要的鉴别诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3319/12004612/8e5bcda69e39/13000_2025_1633_Fig1_HTML.jpg

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