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肠道与基因组的交织:一例青年成人肠套叠揭示林奇综合征及文献综述

Twists of the Gut and Genome: A Case of Intestinal Intussusception Revealing Lynch Syndrome in a Young Adult and Literature Review.

作者信息

Khokhar Imran, Delia Eldia, Mohan Gisha, Farrell Jason, Paudel Anish

机构信息

Internal Medicine, Reading Hospital, Tower Health, West Reading, USA.

Internal Medicine, Suburban Community Hospital, Norristown, USA.

出版信息

Cureus. 2025 Jul 11;17(7):e87738. doi: 10.7759/cureus.87738. eCollection 2025 Jul.

DOI:10.7759/cureus.87738
PMID:40786361
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12335866/
Abstract

Adult intussusception is a rare clinical entity and often indicates an underlying organic pathology, particularly malignancy. Unlike pediatric cases, adult intussusception necessitates oncologic evaluation and surgical management. We present a case of a 32-year-old woman with no family history of colorectal cancer who presented with a three-month history of intermittent abdominal pain, which had worsened recently. Computed tomography imaging revealed a target-like lesion in the cecum and ascending colon, consistent with ileocolic intussusception. Exploratory laparotomy identified a 10 cm intussuscepted segment with a thickened bowel wall and regional lymphadenopathy. A right hemicolectomy with en-bloc resection and lymphadenectomy was performed. Histopathology confirmed a poorly differentiated tubular adenocarcinoma invading the muscularis propria (T2N0M0) without lymph node involvement. Immunohistochemistry demonstrated loss of MLH1, MSH2, and MSH6, consistent with microsatellite instability-high (MSI-H) phenotype. Genetic testing confirmed Lynch syndrome. The postoperative course was uneventful, and the patient was discharged on postoperative day five without the need for adjuvant chemotherapy. Ileocolic intussusception in young adults may be the initial presentation of colorectal malignancy, including hereditary cancer syndromes. Timely surgical resection and genetic evaluation are crucial for diagnosis, staging, and long-term management.

摘要

成人肠套叠是一种罕见的临床病症,通常提示存在潜在的器质性病变,尤其是恶性肿瘤。与小儿病例不同,成人肠套叠需要进行肿瘤学评估和手术治疗。我们报告一例32岁女性患者,其无结直肠癌家族史,出现间歇性腹痛3个月,近期病情加重。计算机断层扫描成像显示盲肠和升结肠有靶样病变,符合回结肠型肠套叠。剖腹探查发现一段10厘米的套叠肠段,肠壁增厚且伴有区域淋巴结肿大。行右半结肠切除术,包括整块切除和淋巴结清扫。组织病理学证实为低分化管状腺癌,侵犯固有肌层(T2N0M0),无淋巴结转移。免疫组化显示MLH1、MSH2和MSH6缺失,符合微卫星高度不稳定(MSI-H)表型。基因检测确诊为林奇综合征。术后过程顺利,患者术后第5天出院,无需辅助化疗。青年成人的回结肠型肠套叠可能是结直肠癌包括遗传性癌症综合征的首发表现。及时的手术切除和基因评估对于诊断、分期及长期管理至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08b0/12335866/5f55c476e3ea/cureus-0017-00000087738-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08b0/12335866/a45c7522e528/cureus-0017-00000087738-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08b0/12335866/a7733c74075a/cureus-0017-00000087738-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08b0/12335866/24a06c100b25/cureus-0017-00000087738-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08b0/12335866/5f55c476e3ea/cureus-0017-00000087738-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08b0/12335866/a45c7522e528/cureus-0017-00000087738-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08b0/12335866/a7733c74075a/cureus-0017-00000087738-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08b0/12335866/24a06c100b25/cureus-0017-00000087738-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08b0/12335866/5f55c476e3ea/cureus-0017-00000087738-i04.jpg

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本文引用的文献

1
Adult Ileocolic Intussusception from the Appendix.成人阑尾所致回结肠套叠
Case Rep Emerg Med. 2019 Dec 9;2019:3272618. doi: 10.1155/2019/3272618. eCollection 2019.
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A rare case of adult colocolonic intussusception of the descending colon.一例罕见的降结肠成人结肠-结肠套叠病例。
BMJ Case Rep. 2019 Nov 24;12(11):e231590. doi: 10.1136/bcr-2019-231590.
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Intussusception reveals MUTYH-associated polyposis syndrome and colorectal cancer: a case report.肠套叠揭示了 MUTYH 相关息肉病综合征和结直肠癌:一例报告。
BMC Cancer. 2019 Apr 5;19(1):324. doi: 10.1186/s12885-019-5505-8.
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Gastrogastric intussusception in adults: a case report with review of the literature.成人胃-胃套叠:一例病例报告并文献复习
BJR Case Rep. 2018 Dec;4(4):20180006. doi: 10.1259/bjrcr.20180006. Epub 2018 Jul 10.
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Intestinal Intussusception: Etiology, Diagnosis, and Treatment.肠套叠:病因、诊断与治疗
Clin Colon Rectal Surg. 2017 Feb;30(1):30-39. doi: 10.1055/s-0036-1593429.
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Factors predicting malignancy in adult intussusception: An experience in university-affiliated hospitals.成人肠套叠中恶性肿瘤的预测因素:大学附属医院的经验。
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Increasing disparities in the age-related incidences of colon and rectal cancers in the United States, 1975-2010.美国 1975-2010 年结肠癌和直肠癌年龄相关发病率的差距日益增大。
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Intussusception due to rectal adenocarcinoma in a young adult: a case report.青年成人直肠腺癌所致肠套叠:一例报告
World J Gastroenterol. 2014 Sep 21;20(35):12678-81. doi: 10.3748/wjg.v20.i35.12678.
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Adult intussusception: a retrospective review.成人肠套叠:一项回顾性研究。
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Adult intussusceptions: preoperative predictive factors for malignant lead point.成人肠套叠:恶性套叠点的术前预测因素
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