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...
确诊为乳腺癌的对侧需预防性切除,确诊为甲状腺癌的需全切。良性皮肤及粘膜病变只要不影响美容及无明显症状不要特殊处理。 Diagnosis[edit] The revised clinical criteria for the diagnosis of Cowden's syndrome for an individual is dependent on either one of the following: 1.) 3 major criteria are met ...
Bannayan–Riley–Ruvalcaba syndromeProteus syndromeFamilial syndromeCowden syndrome (CS) is a rare inherited condition characterised by multiple hamartomas in a variety of tissues from all three embryonic layers. It is a cancer predisposition syndrome with an increased risk of developing malignancy in ...
Cowden综合症又称为多发性错构瘤综合症(multiple hamartoma syndrome),是一种罕见的常染色体显性遗传疾病,目前认为PTEN基因突变是导致发生Cowden综合症的主要原因,文献回顾大约有80%的患者合并有该基因的异常[4]。根据该理论,目前已经成功制作出小鼠动物模型:PTEN敲除后,小鼠会出现癫痫和共济失调的症状,最终出现死亡;组织...
Cowdensyndrome:clinicalcaseandabriefreview So(aLopes)JuliaVide,ElisabeteMoreira,FilomenaAzevedo A,liations:Departmento,DermatologyandVenereology,CentroHospitalarSãoJoãoEPE(Porto)Portugal CorrespondingAuthor:SofaLopes(MD)AlamedaPro,essorHernaniMonteiro,4200-319Porto,Portugal,Tel:351-915452442,E-mail:so,alopes...
Cowden syndrome is an autosomal dominant cancer predisposition syndrome that was rst described in 1963. It remains the most well-characterized PHTS and is considered the prototype PHTS. Presentation is highly variable, and the diagnosis is based primarily on clinical criteria. The most recent...
Will the real Cowden syndrome please stand up: revised diagnostic criteria Author information: (1)Clinical Cancer Genetics Program, Comprehensive Cancer Center, and Division of Human Genetics, Department of Internal Medicine, The ... Eng,C. - 《Journal of Medical Genetics》 被引量: 1051发表: ...
13.. Pilarski R, Burt R, Kohlman W, Cowden syndrome and the PTEN hamartoma tumor syndrome: Systematic review and revised diagnostic criteria: J Natl Cancer Inst, 2013; 105(21); 1607-16 14.. Tan MH, Mester J, Peterson C, A clinical scoring system for selection of patients for PTEN mut...
Will the real Cowden syndrome please stand up: revised diagnostic criteria Author information: (1)Clinical Cancer Genetics Program, Comprehensive Cancer Center, and Division of Human Genetics, Department of Internal Medicine, The ... Eng,C. - 《Journal of Medical Genetics》 被引量: 1050发表: ...
Lhermitte-DuclosDiseaseinassociationwithCowdenSyndrome ColtonNielsonMD 2 ,ToriaFischerBS 3 ,RyanFischerMD 1 ,JosephDonaldMD 4 ,AnandRajparaMD 1 DermatologyOnlineJournal22(5):4 1 UniversityofKansasMedicalCenter,DivisionofDermatology 2 UniversityofKansasSchoolofMedicine ...