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林奇综合征患者的十二指肠腺癌。病例报告及与小肠癌相关的事实

Duodenal Adenocarcinoma in a patient with Lynch Syndrome. A Case Report and Facts Related to Small Intestine Cancer.

作者信息

Cheng Joyce, Patel Ghanshyam, Khealani Milan, Korsapati Hariprasad, Reddy Shilpa, Vasavada Advait, Jain Shikha, Adak Shrestha, Regassa Henok

机构信息

Mercyhealth Internal Medicine Residency, Javon Bea Hospital, Rockford, IL, US.

Marian University, Indianapolis, IN, US.

出版信息

Maedica (Bucur). 2023 Jun;18(2):368-372. doi: 10.26574/maedica.2023.18.2.368.

DOI:10.26574/maedica.2023.18.2.368
PMID:37588841
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10427080/
Abstract

Diagnosing small bowel cancer has been challenging due to its unusual presentation and inaccessibility on endoscopy. A 41-year-old male with a history of irritable bowel syndrome underwent esophagogastroduodenoscopy (EGD) for worsening fatigue and lightheadedness despite iron supplements therapy for low hemoglobin. Initial upper endoscopy showed esophagitis and non-bleeding duodenal bulb ulcer with exudate. Endoscopic ultrasound (EUS) with fine-needle aspiration was done due to persistent concern of malignancy and demonstrated moderately differentiated adenocarcinoma in the second portion of the duodenum. Endoscopic ultrasound with fine-needle aspiration may be a superior approach to diagnosing duodenal carcinoma than EGD alone. Small bowel cancer can be a part of the tumor spectrum of Lynch syndrome. Duodenal adenocarcinomas present at a late stage and portend a poor prognosis. We present a case of duodenal adenocarcinoma in an otherwise healthy individual emphasizing the importance of malignancy in the differential and genetic counseling in individuals with the family risk factor.

摘要

由于小肠癌的表现不寻常且在内镜检查中难以触及,其诊断一直具有挑战性。一名41岁男性,有肠易激综合征病史,尽管因血红蛋白低接受了铁补充剂治疗,但仍因疲劳加重和头晕而接受了食管胃十二指肠镜检查(EGD)。初次上消化道内镜检查显示食管炎和有渗出物的非出血性十二指肠球部溃疡。由于持续担心恶性肿瘤,进行了内镜超声(EUS)引导下细针穿刺活检,结果显示十二指肠第二部有中度分化腺癌。与单独使用EGD相比,内镜超声引导下细针穿刺活检可能是诊断十二指肠癌的更好方法。小肠癌可能是林奇综合征肿瘤谱的一部分。十二指肠腺癌多在晚期出现,预后较差。我们报告一例在其他方面健康的个体中发生的十二指肠腺癌病例,强调了在有家族风险因素的个体中鉴别诊断恶性肿瘤和进行遗传咨询的重要性。

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本文引用的文献

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Gastric and Duodenal Neuroendocrine Tumor Incidentally Found on Endoscopy During the Evaluation of Iron-Deficiency Anemia.在缺铁性贫血评估期间内镜检查偶然发现的胃和十二指肠神经内分泌肿瘤
Cureus. 2022 Feb 14;14(2):e22208. doi: 10.7759/cureus.22208. eCollection 2022 Feb.
2
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.ACG 临床指南:遗传性胃肠道癌综合征的基因检测与管理。
Am J Gastroenterol. 2015 Feb;110(2):223-62; quiz 263. doi: 10.1038/ajg.2014.435. Epub 2015 Feb 3.
3
A population-based comparison of adenocarcinoma of the large and small intestine: insights into a rare disease.基于人群的大肠和小肠腺癌的比较:罕见疾病的深入了解。
Ann Surg Oncol. 2012 May;19(5):1439-45. doi: 10.1245/s10434-011-2173-6. Epub 2011 Dec 21.
4
Usefulness of double-balloon endoscopy in the diagnosis of malignant small-bowel tumors.双气囊小肠镜在恶性小肠肿瘤诊断中的应用价值
Clin Gastroenterol Hepatol. 2008 Nov;6(11):1202-5. doi: 10.1016/j.cgh.2008.05.014. Epub 2008 Sep 17.
5
Small-bowel cancer in Lynch syndrome: is it time for surveillance?林奇综合征中的小肠癌:是时候进行监测了吗?
Lancet Oncol. 2008 Sep;9(9):901-5. doi: 10.1016/S1470-2045(08)70232-8.