[3] Nelen MR, Padberg GW, Peeters EA, et al. Localization of the gene for Cowden disease to chromosome 10q22-23[J]. Nat Genet, 1996, 13(1): 114-116. [4] Liaw D, Marsh DJ, Li J, et al. Germline mutations of the PTEN gene in Cowden disease...
Cowden综合征主要是PTEN基因突变所致,又称为PTEN错构瘤肿瘤综合征,其诊断标准如下: 该患者符合Cowden综合征的临床诊断标准,因患者拒绝行PTEN检查,因此不能确定是遗传性还是散发性。 该患者在我们科经过全身系统治疗及肝内局部治疗,无进展生存期超过2年。同时也告知患者近亲属进行遗传筛查方面的咨询。该例患者提示我们,...
PTEN/MMAC1Hürthle cell variantphosphataseCowden Disease is a rare cancer predisposition syndrome, reported in 1963, and named after the first described patient1. She was a 20-year old woman with breast, skin and thyroid abnormalities, and with several developmental anomalies including choanal ...
Cowden综合征主要是PTEN基因突变所致,又称为PTEN错构瘤肿瘤综合征,其诊断标准如下: 该患者符合Cowden综合征的临床诊断标准,因患者拒绝行PTEN检查,因此不能确定是遗传性还是散发性。 该患者在我们科经过全身系统治疗及肝内局部治疗,无进展生存期超过2年。同时也告知患者近亲属进行遗传筛查方面的咨询。该例患者提示我们,...
Cowden综合征主要是PTEN基因突变所致,又称为PTEN错构瘤肿瘤综合征,其诊断标准如下: 该患者符合Cowden综合征的临床诊断标准,因患者拒绝行PTEN检查,因此不能确定是遗传性还是散发性。 该患者在我们科经过全身系统治疗及肝内局部治疗,无进展生存期超过2年。同时也告知患者近亲属进行遗传筛查方面的咨询。该例患者提示我们,...
Lloyd和Dennis[8]在1963年最早报道1例20岁女性患者Rachel Cowden,临床表现为腺样体面容、高腭弓、嘴唇和口腔咽乳头状瘤病、甲状腺多发腺瘤、乳腺纤维囊性结节、直肠炎,伴有中枢神经系统异常,同时有家族史,考虑为遗传性疾病,命名为Cowden...
有80%的Cowden综合征源于染色体10q22-23上的PTEN基因突变。Cowden综合征主要表现在皮肤和胃肠道,以面部小丘疹、口腔黏膜乳突状瘤、肢端角化症及胃肠道多发性息肉为主要临床特征。面部小丘疹作为特有的皮肤黏膜症状,99%的患者在30岁前均已出现。患者口腔可见牙龈、上颚等处的黏膜乳突样病变及阴囊舌。该病胃肠道多发性...
The resulting bacteremia resulted in the development of infection in the left ankle, which had preexisting disease and was thus vulnerable. This case provides further evidence for the mode of infection being bacteremia in cirrhotic patients. in patients with cirrhosis and fever, a high index of ...
PTEN hamartoma tumor syndrome (PHTS) is the molecular diagnostic term describing patients with Cowden syndrome, Bannayan鈥揜iley鈥揜uvalcaba syndrome, and ... I Witters,JP Fryns - John Wiley & Sons, Ltd 被引量: 0发表: 2009年 Cowden Disease (Multiple Hamartoma Syndrome) Cowden disease, also...
Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome. J M Carethers,F B Furnari,A F Zigman,... - 《Cancer Research》 - 1998 - 被引量: 3765 Lhermitte-Duclos disease as a component of Cowden's syndrome. ...