Zhao Mingkun, Lin Xiaohan, Fang Yuan, Zhuang Aobo, Tong Hanxing, Lu Weiqi, Zhou Yuhong, Zhang Yong
Department of General Surgery, South Hospital of the Zhongshan Hospital/Shanghai Public Health Clinical Center, Fudan University, Shanghai, China.
School of Clinical Medicine, Hangzhou Normal University, Hangzhou, China.
Front Surg. 2022 Jul 12;9:935048. doi: 10.3389/fsurg.2022.935048. eCollection 2022.
Cowden syndrome is a rare autosomal dominant genetic disease associated with PTEN mutation and is mainly shown as systemic multisystem lesions. The incidence of adenocarcinoma of the duodenum with Cowden syndrome in Asian males is rare. We hereby describe the diagnosis, treatment, and prognosis of a patient with duodenal carcinoma and Cowden syndrome.
A 40-year-old Chinese man was hospitalized because of gastrointestinal hemorrhage and anemia due to infiltrating adenocarcinoma of the descending part of the duodenum. He also had typical signs of Cowden syndrome, such as multiple polyps of the gastrointestinal tract, macrocephaly, papilloma of the tongue, soles hyperkeratosis, and melanosis spots. After the pancreaticoduodenectomy (classic Whipple), the lesions revealed the presence of hamartomatoid polyps, and some of them mutated into non-mucinous adenocarcinoma (80%) and mucinous adenocarcinoma (20%). Further investigation showed a lack of PTEN protein expression in the duodenal neoplasm, and genetic analysis showed the mutation of p.E242fs in PTEN. The patient was followed up for 1 year. There was no appearance of recurrence or distant metastasis.
It is suggested that we should pay more attention to the differential diagnosis of duodenal carcinoma combined with gastrointestinal polyps. If multiple gastrointestinal polyps with gastrointestinal bleeding are encountered, Cowden syndrome should be considered, and timely diagnosis and treatment should be implemented.
考登综合征是一种与PTEN突变相关的罕见常染色体显性遗传病，主要表现为全身多系统病变。亚洲男性患考登综合征合并十二指肠腺癌的发病率较低。我们在此描述一例十二指肠癌合并考登综合征患者的诊断、治疗及预后情况。
一名40岁中国男性因十二指肠降部浸润性腺癌导致胃肠道出血和贫血而住院。他还具有考登综合征的典型体征，如胃肠道多发息肉、巨头畸形、舌乳头状瘤、足底角化过度和黑色素沉着斑。在进行胰十二指肠切除术（经典惠普尔手术）后，病变显示存在错构瘤样息肉，其中一些恶变为非黏液腺癌（80%）和黏液腺癌（20%）。进一步检查显示十二指肠肿瘤中PTEN蛋白表达缺失，基因分析显示PTEN基因存在p.E242fs突变。对该患者进行了1年的随访。未出现复发或远处转移。
建议对合并胃肠道息肉的十二指肠癌加强鉴别诊断。如果遇到伴有胃肠道出血的多发胃肠道息肉，应考虑考登综合征，并及时进行诊断和治疗。
