GI Polyposis and Glycogenic Acanthosis of the Esophagus Associated With PTEN Mutation Positive Cowden Syndrome in the Absence of Cutaneous Manifestations
GI Polyposis and Glycogenic Acanthosis of the Esophagus Associated With PTEN Mutation Positive Cowden Syndrome in the Absence of Cutaneous Manifestations
复制标题
与 PTEN 突变阳性 Cowden 综合征相关但无皮肤表现的胃肠道息肉病和糖源性棘皮症
DOI：
10.1111/j.1572-0241.2003.07496.x
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发表时间：
2003
影响因子：
9.8
通讯作者：
C. Eng
中科院分区：
文献类型：
--
作者：
T. Mcgarrity;M. Baker;F. Ruggiero;D. Thiboutot;H. Hampel;Xiao;C. Eng
一名62岁的男性被转诊治疗胃肠道息肉病。大肠息肉最初诊断于>25年前，患者接受了多次结肠镜检查和息肉切除术。甲状腺肿和甲状腺功能减退症的个人和家族史值得注意。体格检查发现舌乳头状瘤病。未见皮肤病变。上消化道内窥镜检查显示食管糖原棘皮症。胃、小肠和大肠有多个息肉。这些息肉的组织学显示多种细胞类型，包括幼年息肉、伴有纤维肌性增生和固有层神经节细胞的炎性息肉以及局灶性腺瘤样改变。临床诊断为Cowden综合征。突变分析显示PTEN基因第8外显子存在变异。直接测序揭示了一个种系杂合的C.892- 895 InsA，预测其导致截短的PTEN蛋白。Cowden综合征是一种诊断不足、认识不足的常染色体显性遗传综合征。对于胃肠病学家来说，食管棘皮症和多发性错构瘤性息肉应该是诊断的建议。寻找适当基因突变的敏感分子诊断测试在临床上是可用的。与遗传咨询一起，分子诊断测试将允许对患者和家庭成员进行更准确的癌症风险评估和监测。
A 62-yr-old man was referred for management of GI polyposis. Large bowel polyps were initially diagnosed >25 yr ago, and the patient had undergone multiple colonoscopies and polypectomies. Personal and family history were notable for thyroid goiter and hypothyroidism. Physical examination was notable for lingular papillomatosis. No cutaneous lesions were seen. Upper endoscopy revealed esophageal glycogen acanthosis. There were multiple polyps throughout the stomach and the small and large intestines. Histology of these polyps showed multiple cell types including juvenile polyps, inflammatory polyps with fibromuscular proliferation and lamina propria ganglion cells, and focal adenomatous change. A clinical diagnosis of Cowden syndrome was made. Mutation analysis revealed a variant in exon 8 of the PTEN gene. Direct sequencing revealed a germline heterozygous C.892–895InsA, which is predicted to result in a truncated PTEN protein. Cowden syndrome is an underdiagnosed, underrecognized, autosomal dominant, inherited syndrome. For the gastroenterologist, esophageal acanthosis and multiple hamartomatous polyps should suggest the diagnosis. Sensitive molecular diagnostic tests looking for mutations in the appropriate genes are clinically available. Together with genetic counseling, molecular diagnostic testing will allow more accurate risk assessment and surveillance for cancer for both the patient and family members.