Objective To investigate the pathologic morphology and immunohistochemical phenotypes of sarcomatoid carcinoma(SC) of the fallopian tube.Methods One case of SC of the fallopian tube was studied under the light microscopy for morphology.Immunohistochemistry was used to detect the expression of CK,EMA,S-100,Desmin,SMA,Leu-7,CD68,actin,and Vimentin in SC tissues.Pathologic features and biological behaviors of SC were analyzed in combination with the review of literature.Results Microscopically carcinomatous and sarcomatous elements co-existed.Usually the sarcomatous element formed the bulk of the lesion.In the sarcomatous tissues,there was no distinguishable bone,cartilage,rhadomyosarcoma,etc. Immunohistochemically the strong expression of CK7,EMA and Vimentin,and the partial expression of S-100,SMA,Leu7,CD68 and actin were detected.Conclusion SC of the fallopian tube is lack of specific symptoms,and its preoperative diagnosis is difficult.B-ultrasonography,CT and MRI are helpful to the staging of SC.Final diagnosis of SC depends on pathological examination and immunohistochemistry.SC is rare,and undergoes blood metastasis in early stage.Prognosis of SC is worst.Early detection of SC is the key to improve the prognosis.

OBJECTIVETo identify the casual mutation of a Chinese pedigree with hypertrophic cardiomyopathy (HCM), and to analyze the genotype-phenotype relationship.

METHODSThe coding exons of 26 reported disease genes were sequenced by targeted resequencing in the proband and the identified mutation were detected with bi-directional Sanger sequencing in all family members and 307 healthy controls. The genotype-phenotype correlation was analyzed in the family.

RESULTSA missense mutation (c.2191C > T, p. Pro731Ser) in the 20th exon of MYH7 gene was identified. This mutation was absent in 307 healthy controls and predicted to be pathogenic by PolyPhen-HCM. Totally 13 family members carried this mutation, including 10 patients with HCM and 3 asymptomatic mutation carriers. The proband manifested severe congestive heart failure and 8 patients expressed various clinical manifestations of heart failure, including dyspnea, palpitations, chest pain, amaurosis or syncope. Five patients were diagnosed as HCM at the age of 16 or younger. One family member suffered sudden cardiac death.

CONCLUSIONSThe Pro731Ser of MYH7 gene mutation is a causal and malignant mutation linked with familiar HCM.

Adolescent ; Asian Continental Ancestry Group ; Base Sequence ; Cardiomyopathy, Hypertrophic ; ethnology ; genetics ; Death, Sudden, Cardiac ; Exons ; Humans ; Mutation, Missense ; Myosin Heavy Chains ; genetics ; Pedigree ; Phenotype ; Research Design ; Ventricular Myosins

Objective To identify the casual mutation of a Chinese pedigree with hypertrophic cardiomyopathy (HCM),and to analyze the genotype-phenotype relationship.Methods The coding exons of 26 reported disease genes were sequenced by targeted resequencing in the proband and the identified mutation were detected with bi-directional Sanger sequencing in all family members and 307 healthy controls.The genotype-phenotype correlation was analyzed in the family.Results A missense mutation (c.2191C>T, p.Pro731Ser) in the 20th exon of MYH7 gene was identified.This mutation was absent in 307 healthy controls and predicted to be pathogenic by PolyPhen-HCM.Totally 13 family members carried this mutation , including 10 patients with HCM and 3 asymptomatic mutation carriers.The proband manifested severe congestive heart failure and 8 patients expressed various clinical manifestations of heart failure , including dyspnea , palpitations , chest pain , amaurosis or syncope.Five patients were diagnosed as HCM at the age of 16 or younger.One family member suffered sudden cardiac death.Conclusions The Pro731Ser of MYH7 gene mutation is a causal and malignant mutation linked with familiar HCM.