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伴有胆囊息肉及意外胆囊癌的考登综合征

Cowden Syndrome With Gall Bladder Polyps and Incidental Gall Bladder Carcinoma.

作者信息

Agarwal Praveen, Sachan Ashish, Goel Vivek, Jindal Sourabh, Jain Pradeep

机构信息

Surgical Gastroenterology, Fortis Hospital, Shalimar Bagh, Delhi, IND.

出版信息

Cureus. 2023 May 31;15(5):e39794. doi: 10.7759/cureus.39794. eCollection 2023 May.

Abstract

Cowden syndrome is an uncommon autosomal dominant disorder characterized by multiple hamartomas in various tissues. It is associated with germline mutation in the phosphatase and tensin homolog (PTEN) gene. It has an increased risk of malignancies of various organs (commonly breast, thyroid, and endometrium) and benign overgrowth of tissues like skin, colon, and thyroid. Here, we present a case of Cowden syndrome in a middle-aged female who presented with acute cholecystitis with gall bladder polyps along with intestinal polyps. She underwent total proctocolectomy with ileal pouch-anal anastomosis (IPAA) with diversion ileostomy and cholecystectomy, which was further proceeded to completion of radical cholecystectomy based on the final histopathology report as incidental gall bladder carcinoma. To the best of our knowledge, this association is seen for the first time in the literature. In Cowden syndrome, patients should be counseled for regular follow-up and instructed to be aware of the signs and symptoms of different types of cancers with higher incidence.

摘要

考登综合征是一种罕见的常染色体显性疾病,其特征是在各种组织中出现多发性错构瘤。它与磷酸酶和张力蛋白同源物(PTEN)基因的种系突变有关。它患各种器官恶性肿瘤(常见于乳腺、甲状腺和子宫内膜)的风险增加,以及皮肤、结肠和甲状腺等组织的良性过度生长。在此,我们报告一例中年女性考登综合征病例,该患者表现为急性胆囊炎伴胆囊息肉以及肠道息肉。她接受了全直肠结肠切除术加回肠储袋肛管吻合术(IPAA)并做了转流性回肠造口术以及胆囊切除术,基于最终组织病理学报告为偶然发现的胆囊癌,进一步完成了根治性胆囊切除术。据我们所知,这种关联在文献中首次被发现。对于考登综合征患者,应建议其定期随访,并指导他们了解发病率较高的不同类型癌症的体征和症状。

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