PTEN基因的病理性变体除Cowden综合征外,还在Bannayan-Riley-Ruvalcaba综合征、Proteus综合征中发现,统称为PTEN错构瘤综合征。由于PTEN蛋白的功能异常,细胞内的PI3K/Akt/mTOR通路被激活,从而抑制细胞死亡,引起细胞增殖,全身脏器多发错构瘤性病变。 Blumenthal GM,Dennis PA:PTEN hamar...
Cowden综合征(Cowden syndrome,CS)是一种由PTEN基因致病性变异引起的较罕见的多系统癌症易感综合征,是PTEN错构瘤肿瘤综合征(PTEN Hamartoma tumor syndrome,PHTS)的一种,70%~80%的CS患者可以检测到染色体10q22-23肿瘤抑制基因PTEN的突变。该综合征的特点是多发性错构瘤,这些患者患乳腺癌、甲...
近二十年来,人们意识到LDD为Cowden综合征(Cowden syndrome,CS)的一种颅内表现,其诊断和治疗均发生了一些改变[4-6]。 2、临床表现 肿瘤位于小脑半球,生长缓慢,高峰发病年龄为30-40岁,但是也有发生于新生儿和70多岁患者的报道,该病没有明显的性别差异[7]。患者病史多较长,患者多有头痛、呕吐等颅内压升高的症状,...
Sueta A, Takeno M, Goto-Yamaguchi L, Tomiguchi M, Inao T, Yamamoto-Ibusuki M, Yamamoto Y. A progressive and refractory case of breast cancer with Cowden syndrome. World J Surg Oncol. 2022 Sep 3;20(1):279. doi: 10.1186/s12957-022-02745-5. PMID: 36057718; PMCID: PMC9440557. ...
syndrome de Cowdenhamartomesgène PTENtransformation maligneIn the previous paper (Med Buccale Chir Buccale 2011;17:19-27), we have reviewed the literature on Cowden syndrome (Med Buccale Chir Buccale 2011;17:19-27), in this paper we report 7 new cases found in 2 Genova families and ...
Cowden 综合征( Cowden syndrome,CS) 又称多 发性错构瘤综合征、多发性外毛根鞘瘤,是一种临床 罕见的以内、中、外胚层来源的多发性错构瘤为主要 特征的常染色体显性遗传病,约 70% ～ 80% 的 CS 患者可以检测到来源自生殖细胞的位于染色体10q22-23 肿瘤抑制基因 PTEN 的突变,发病率约为 1 /300 000,男女例...
Hamartomatous Polyps of Cowden Syndrome(CS) 更新时间:2017-09-22 16:08:28 概述: 常染色体显性遗传性疾病,多发性错构瘤(皮肤、胃肠道、甲状腺及乳腺),乳腺癌及甲状腺癌及子宫内膜癌的风险增加。 诊断要点: 1. 发病率约1/200,000,临床皮肤病变可见口腔黏膜纤维瘤、肢端角化病(脸部及四肢皮肤的疣及过度角化病...
DIAGNOSIS:Cowdensyndrome Discussion PTENhamartomatumorsyndrome(PHTS)isaterm thatisusedtodescribeagroupo raresyndromes, whichare associated with germline mutations in the tumor suppressor phosphate and tensin homologue deleted on chromosome ten (PTEN). The our major syndromes are Cowden syndrome (CS)...
Before we even had a chance to begin making plans, the screening breast sonogram for her PTEN Mutation, the Cowden Syndrome I mentioned earlier, came back with 7 notable lesions and a BIRADS 3 rating. She was advised to see a breast surgeon, which we immediately scheduled for her October ...