Objective To discuss the diagnosis and surgical management of multilocular cystic renal cell carcinoma ( MCRCC) and to evaluate the gene function of the mutation of von Hippel-Lindau ( VHL) gene in MCRCC. Methods Seve...Objective To discuss the diagnosis and surgical management of multilocular cystic renal cell carcinoma ( MCRCC) and to evaluate the gene function of the mutation of von Hippel-Lindau ( VHL) gene in MCRCC. Methods Seventeen MCRCC cases ( 11 men and展开更多
Background Von Hippel-Lindau （VHL） syndrome is an autosomal dominant familial cancer syndrome predisposing the affected individuals to multiple tumours in various organs.The genetic basis of VHL in Southern Chinese ...Background Von Hippel-Lindau （VHL） syndrome is an autosomal dominant familial cancer syndrome predisposing the affected individuals to multiple tumours in various organs.The genetic basis of VHL in Southern Chinese is largely unknown.In this study,we characterized the mutation spectrum of VHL in nine unrelated Southern Chinese families.Methods Nine probands with clinical features of VHL,two symptomatic and eight asymptomatic family members were included in this study.Prenatal diagnosis was performed twice for one proband.Two probands had only isolated bilateral phaeochromocytoma.The VHL gene was screened for mutations by polymerase chain reaction,direct sequencing and multiplex ligation-dependent probe amplification （MLPA）.Results The nine probands and the two symptomatic family members carried heterozygous germline mutations.Eight different VHL mutations were identified in the nine probands.One splicing mutation,NM_000551.2：c.463＋1G〉T,was novel.The other seven VHL mutations,c.233A〉G [p.Asn78Ser],c.239G〉T [p.Ser80lle],c.319C〉G [p.Arg107Gly],c.481C〉T [p.Arg161X],c.482G〉A [p.Arg161GIn],c.499C〉T [p.Arg167Trp] and an exon 2 deletion,had been previously reported.Three asymptomatic family members were positive for the mutation and the other five tested negative.In prenatal diagnosis,the fetuses were positive for the mutation.Conclusions Genetic analysis could accurately confirm VHL syndrome in patients with isolated tumours such as sporadic phaeochromocytoma or epididymal papillary cystadenoma.Mutation detection in asymptomatic family members allows regular tumour surveillance and early intervention to improve their prognosis.DNA-based diagnosis can have an important impact on clinical management for VHL families.展开更多
Renal cell carcinoma （RCC） is the most common malignant tumour in the adult kidney. Recent studies have shown that inactivation of the tumour suppressor gene VHL located in chromosome 3p25-26 region is responsible f...Renal cell carcinoma （RCC） is the most common malignant tumour in the adult kidney. Recent studies have shown that inactivation of the tumour suppressor gene VHL located in chromosome 3p25-26 region is responsible for sporadic RCCs. According to Kundson＇s two hit theory, the mechanism of inactivation of a tumour suppressor gene involves mutation, hypermethylation and loss of heterozygosity （LOH）.展开更多
文摘Objective To discuss the diagnosis and surgical management of multilocular cystic renal cell carcinoma ( MCRCC) and to evaluate the gene function of the mutation of von Hippel-Lindau ( VHL) gene in MCRCC. Methods Seventeen MCRCC cases ( 11 men and
文摘Background Von Hippel-Lindau （VHL） syndrome is an autosomal dominant familial cancer syndrome predisposing the affected individuals to multiple tumours in various organs.The genetic basis of VHL in Southern Chinese is largely unknown.In this study,we characterized the mutation spectrum of VHL in nine unrelated Southern Chinese families.Methods Nine probands with clinical features of VHL,two symptomatic and eight asymptomatic family members were included in this study.Prenatal diagnosis was performed twice for one proband.Two probands had only isolated bilateral phaeochromocytoma.The VHL gene was screened for mutations by polymerase chain reaction,direct sequencing and multiplex ligation-dependent probe amplification （MLPA）.Results The nine probands and the two symptomatic family members carried heterozygous germline mutations.Eight different VHL mutations were identified in the nine probands.One splicing mutation,NM_000551.2：c.463＋1G〉T,was novel.The other seven VHL mutations,c.233A〉G [p.Asn78Ser],c.239G〉T [p.Ser80lle],c.319C〉G [p.Arg107Gly],c.481C〉T [p.Arg161X],c.482G〉A [p.Arg161GIn],c.499C〉T [p.Arg167Trp] and an exon 2 deletion,had been previously reported.Three asymptomatic family members were positive for the mutation and the other five tested negative.In prenatal diagnosis,the fetuses were positive for the mutation.Conclusions Genetic analysis could accurately confirm VHL syndrome in patients with isolated tumours such as sporadic phaeochromocytoma or epididymal papillary cystadenoma.Mutation detection in asymptomatic family members allows regular tumour surveillance and early intervention to improve their prognosis.DNA-based diagnosis can have an important impact on clinical management for VHL families.
文摘Renal cell carcinoma （RCC） is the most common malignant tumour in the adult kidney. Recent studies have shown that inactivation of the tumour suppressor gene VHL located in chromosome 3p25-26 region is responsible for sporadic RCCs. According to Kundson＇s two hit theory, the mechanism of inactivation of a tumour suppressor gene involves mutation, hypermethylation and loss of heterozygosity （LOH）.
