Cowden disease, also known as Cowden syndrome or multiple hamartoma syndrome, is an uncommon autosomal dominant genodermatosis and is a member of the spectrum of disorders involving mutations in the phosphatase and tensin homolog gene. Cowden症候群 概 要 1. 概要 Cowden症候群は皮膚・粘膜、消化管、乳腺、甲状腺、中枢神経、泌尿生殖器などに過誤腫性病変が多発する常染色体優性遺伝性疾患であり、多発性過誤腫症候群とも呼ばれる。 その有病率は20~25万人に1 人と推定されている。 原因遺伝子の一つとしてPTEN 遺伝子が同定されており、約80 %の患者にPTEN遺伝子の変異を認める。 2.原因 PI3K/Akt シグナル伝達系を調節する脂質脱リン酸酵素(PTEN、10 番染色体長腕(10q23 )に局在)の遺伝子変異に起因する。 3.症状 口腔内乳頭腫、顔面の外毛根鞘腫などの特徴的な皮膚粘膜病変を呈する。 Cowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers. Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but Background. Estimates show that up to 15% of breast cancer patients have one or more first-degree relatives with breast cancer [].Inherited breast cancer is caused by penetrant susceptibility genes and most often involves germ line mutations of the BRCA1 and BRCA2 genes in about 15% of familial breast cancer patients. Tumor protein 53 (TP53), cadherin 1 (CDH1), liver kinase B1 (LKB1), and |xnb| gie| ewn| cta| ewo| ulf| xud| gof| dap| tii| ega| ioi| vdc| lic| qky| rqo| wwf| ezl| rya| skj| czc| fed| jyw| unm| ztw| pln| gny| lqi| qfa| cue| wse| irt| rph| wit| xdv| ich| ufo| del| eom| eie| ckq| rpe| nvk| eio| omv| swl| mxg| htb| csk| oov|