BACKGROUND Von Hippel-Lindau disease(also known as VHL syndrome),is an autosomal dominant inherited disease.We describe a sporadic case of VHL syndrome where bilateral pheochromocytomas were unexpectedly identified.Th...BACKGROUND Von Hippel-Lindau disease(also known as VHL syndrome),is an autosomal dominant inherited disease.We describe a sporadic case of VHL syndrome where bilateral pheochromocytomas were unexpectedly identified.The patient underwent selective laparoscopic resections of the pheochromocytomas,and the anesthetic management during surgery was complex and challenging.CASE SUMMARY A 22-year-old man presented to our hospital to seek medical advice for infertility without any other complaints.The results of computed tomography and catecholamine levels in blood and urine demonstrated adrenal gland masses which were diagnosed as pheochromocytomas.Further examination confirmed that the patient also had VHL syndrome.After thorough preparation,the patient underwent selective laparoscopic resection of the pheochromocytomas and was discharged 10 d after surgery.We describe the process of perioperative anesthesia management in this patient undergoing pheochromocytoma resection.CONCLUSION This case summaries specific clinical traits and considerations in perioperative anesthesia management for VHL syndrome patients undergoing bilateral pheochromocytoma resection.展开更多
Von Hippel-Lindau (VHL) syndrome is a rare, autosomal dominantly inherited multicancer syndrome. Disease is predisposed by hemangioblastoma, renal cell carcinoma, pheochromocytoma, pancreatic islet cell and cystic tum...Von Hippel-Lindau (VHL) syndrome is a rare, autosomal dominantly inherited multicancer syndrome. Disease is predisposed by hemangioblastoma, renal cell carcinoma, pheochromocytoma, pancreatic islet cell and cystic tumors or epididymis tumors under the mutation or deletion at the tumor suppressor gene. Here we report a 42-year-old woman who had been operated for cerebellar hemangioblastoma and retinal angioma, and presented with recurrent, mild abdominal pain. In radiological imaging studies, multiple pancreatic cysts without nodulation were determined. Because of the mild abdominal pain and uncertain malignant potential of the cysts, total pancreatectomy was performed. She was discharged at the fifteenth day after the surgery without any problem. The patient has been followed for 62 months without any problem, and her diabetes mellitus is being controlled by medication.展开更多
Von Hippel-Lindau syndrome (VHL) is a rare autosomal-dominant, inherited familial cancer syndrome. Hemangioblastomas, pheochromocytomas and renal carcinoma are the frequent reported VHL tumors. Neuroendocrine tumors h...Von Hippel-Lindau syndrome (VHL) is a rare autosomal-dominant, inherited familial cancer syndrome. Hemangioblastomas, pheochromocytomas and renal carcinoma are the frequent reported VHL tumors. Neuroendocrine tumors have also been described, mostly in the pancreas and rarely in the biliary trees. We report the second case of bile duct carcinoid in a 31-year-old VHL woman. She underwent right adrenalectomy for a pheochromocytoma in the past. She also had a positive family history of phenotypic expression of VHL syndrome. The patient presented with biliary colic. Endoscopic retrograde cholangio-pancreatography showed intra-luminal bile duct mass. Surgical exploration identified a beige nodular lesion that was a carcinoid tumor on histology. This new association should be clarified by further genetic investigations.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
Von Hippel-Lindau病(VHL病)是VHL基因变异导致的遗传肿瘤综合征。VHL病相关肿瘤常为多发,其常规治疗方法为手术,但术后易复发。VHL基因具有缺氧诱导因子(HIF)依赖及HIF非依赖的肿瘤抑制作用,关于VHL病遗传学机制的研究为该病的治疗奠...Von Hippel-Lindau病(VHL病)是VHL基因变异导致的遗传肿瘤综合征。VHL病相关肿瘤常为多发,其常规治疗方法为手术,但术后易复发。VHL基因具有缺氧诱导因子(HIF)依赖及HIF非依赖的肿瘤抑制作用,关于VHL病遗传学机制的研究为该病的治疗奠定了基础。近年来针对VHL病遗传学机制靶向药物的出现,为该病的治疗提供了新的思路,作用于缺氧诱导通路的小分子靶向药物,如belzutifan、酪氨酸激酶抑制剂,在临床试验中对VHL病的治疗展示了良好的应用前景。本文对VHL病遗传学机制及相关治疗进展进行总结。针对VHL病靶向药物更深入的临床研究将会为该病患者提供更多的治疗选择。展开更多
Background: Von Hippel–Lindau(VHL) syndrome is a dominantly inherited multisystem cancer syndrome caused by a heterozygous mutation in the VHL tumor suppressor gene. Previous studies suggested that similar population...Background: Von Hippel–Lindau(VHL) syndrome is a dominantly inherited multisystem cancer syndrome caused by a heterozygous mutation in the VHL tumor suppressor gene. Previous studies suggested that similar populations of Caucasian and Japanese patients have similar genotype or phenotype characteristics. In this comprehensive study of East Asian patients, we investigated the genetic and clinical characteristics of patients with VHL syndrome.Methods: To create a registry of clinical characteristics and mutations reported in East Asian patients with VHL syndrome, we conducted a comprehensive review of English language and non?English language articles identi?fied through a literature search. Publications in Japanese or Chinese language were read by native speakers of the language, who then performed the data extraction.Results: Of 237 East Asian patients with VHL syndrome, 154 unique kindreds were identified for analysis. Analyzed by kindred, missense mutations were the most common(40.9%, 63/154), followed by large/complete deletions(32.5%, 50/154) and nonsense mutations(11.7%, 18/154). Compared with a previously reported study of both East Asian and non?East Asian patients, we found several key differences. First, missense and frameshift mutations in the VHL gene occurred less commonly in our population of East Asian patients(40.9% vs. 52.0%; P = 0.012 and 8.4% vs. 13.0%; P < 0.001, respectively). Second, large/complete deletions were more common in our population of East Asian patients(32.5% vs. 10.5%; P < 0.001). Third, phenotypically, we observed that, in our population of East Asian patients with VHL syndrome, the incidence of retinal capillary hemangioblastoma was lower, whereas the incidence of renal cell carcinoma was higher.Conclusions: Evidence suggests that the genotypic and phenotypic characteristics of East Asian patients with VHL syndrome differ from other populations. This should be considered when making screening recommendations for VHL syndrome in Asia.展开更多
Acquired von Willebrand syndrome (AvWS) is kind of bleeding disorder with laboratory findings similar to those in congenital yon Willebrand disease (vWD).AvWS doesn's have any personal or family history of bleedin...Acquired von Willebrand syndrome (AvWS) is kind of bleeding disorder with laboratory findings similar to those in congenital yon Willebrand disease (vWD).AvWS doesn's have any personal or family history of bleeding, but is associated with certain diseases or abnormal conditions or drugs. Although AvWS is being stated as a rare disease, it has gained more and more attention during the past years. Not because of the severity of the disease, but it is more common than we thought and most patients don' t have a proper diagnosis.展开更多
目的 von Hippel-Lindau(VHL)综合征是一组罕见的多器官受累的常染色体显性遗传性疾病,临床表现复杂、易误诊。本文探讨VHL综合征的临床特点、CT及MRI特征,提高对本病的早期诊断和综合治疗水平。资料与方法回顾性分析5例VHL综合征患者...目的 von Hippel-Lindau(VHL)综合征是一组罕见的多器官受累的常染色体显性遗传性疾病,临床表现复杂、易误诊。本文探讨VHL综合征的临床特点、CT及MRI特征,提高对本病的早期诊断和综合治疗水平。资料与方法回顾性分析5例VHL综合征患者的临床资料、CT及MRI表现,随访治疗后的结局。结果 5例VHL综合征患者中,小脑血管网织细胞瘤4例,其中1例合并脑干多发血管网织细胞瘤,颈髓多发血管网织细胞瘤1例,典型MRI表现为多发囊实性混杂信号,强化MRI呈实质部明显强化。肾透明细胞癌3例,典型CT表现为等或稍低密度肿块,强化CT可见肿块呈欠均匀强化。双侧附睾囊腺瘤1例,超声示双侧附睾囊实性肿物,实质部分回声不均匀且血流丰富。出院后随访至2015年1月,格拉斯哥预后评分恢复良好3例,死亡2例,均死于肾癌。结论 VHL综合征患者预后较差,肾癌为主要死亡原因。早期应对高度怀疑或已诊断为VHL综合征的患者行VHL基因检测分析并仔细询问其家族史,早期治疗、长期随访及定期影像学检查有助于改善患者预后。展开更多
文摘BACKGROUND Von Hippel-Lindau disease(also known as VHL syndrome),is an autosomal dominant inherited disease.We describe a sporadic case of VHL syndrome where bilateral pheochromocytomas were unexpectedly identified.The patient underwent selective laparoscopic resections of the pheochromocytomas,and the anesthetic management during surgery was complex and challenging.CASE SUMMARY A 22-year-old man presented to our hospital to seek medical advice for infertility without any other complaints.The results of computed tomography and catecholamine levels in blood and urine demonstrated adrenal gland masses which were diagnosed as pheochromocytomas.Further examination confirmed that the patient also had VHL syndrome.After thorough preparation,the patient underwent selective laparoscopic resection of the pheochromocytomas and was discharged 10 d after surgery.We describe the process of perioperative anesthesia management in this patient undergoing pheochromocytoma resection.CONCLUSION This case summaries specific clinical traits and considerations in perioperative anesthesia management for VHL syndrome patients undergoing bilateral pheochromocytoma resection.
文摘Von Hippel-Lindau (VHL) syndrome is a rare, autosomal dominantly inherited multicancer syndrome. Disease is predisposed by hemangioblastoma, renal cell carcinoma, pheochromocytoma, pancreatic islet cell and cystic tumors or epididymis tumors under the mutation or deletion at the tumor suppressor gene. Here we report a 42-year-old woman who had been operated for cerebellar hemangioblastoma and retinal angioma, and presented with recurrent, mild abdominal pain. In radiological imaging studies, multiple pancreatic cysts without nodulation were determined. Because of the mild abdominal pain and uncertain malignant potential of the cysts, total pancreatectomy was performed. She was discharged at the fifteenth day after the surgery without any problem. The patient has been followed for 62 months without any problem, and her diabetes mellitus is being controlled by medication.
文摘Von Hippel-Lindau syndrome (VHL) is a rare autosomal-dominant, inherited familial cancer syndrome. Hemangioblastomas, pheochromocytomas and renal carcinoma are the frequent reported VHL tumors. Neuroendocrine tumors have also been described, mostly in the pancreas and rarely in the biliary trees. We report the second case of bile duct carcinoid in a 31-year-old VHL woman. She underwent right adrenalectomy for a pheochromocytoma in the past. She also had a positive family history of phenotypic expression of VHL syndrome. The patient presented with biliary colic. Endoscopic retrograde cholangio-pancreatography showed intra-luminal bile duct mass. Surgical exploration identified a beige nodular lesion that was a carcinoid tumor on histology. This new association should be clarified by further genetic investigations.
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Background: Von Hippel–Lindau(VHL) syndrome is a dominantly inherited multisystem cancer syndrome caused by a heterozygous mutation in the VHL tumor suppressor gene. Previous studies suggested that similar populations of Caucasian and Japanese patients have similar genotype or phenotype characteristics. In this comprehensive study of East Asian patients, we investigated the genetic and clinical characteristics of patients with VHL syndrome.Methods: To create a registry of clinical characteristics and mutations reported in East Asian patients with VHL syndrome, we conducted a comprehensive review of English language and non?English language articles identi?fied through a literature search. Publications in Japanese or Chinese language were read by native speakers of the language, who then performed the data extraction.Results: Of 237 East Asian patients with VHL syndrome, 154 unique kindreds were identified for analysis. Analyzed by kindred, missense mutations were the most common(40.9%, 63/154), followed by large/complete deletions(32.5%, 50/154) and nonsense mutations(11.7%, 18/154). Compared with a previously reported study of both East Asian and non?East Asian patients, we found several key differences. First, missense and frameshift mutations in the VHL gene occurred less commonly in our population of East Asian patients(40.9% vs. 52.0%; P = 0.012 and 8.4% vs. 13.0%; P < 0.001, respectively). Second, large/complete deletions were more common in our population of East Asian patients(32.5% vs. 10.5%; P < 0.001). Third, phenotypically, we observed that, in our population of East Asian patients with VHL syndrome, the incidence of retinal capillary hemangioblastoma was lower, whereas the incidence of renal cell carcinoma was higher.Conclusions: Evidence suggests that the genotypic and phenotypic characteristics of East Asian patients with VHL syndrome differ from other populations. This should be considered when making screening recommendations for VHL syndrome in Asia.
文摘Acquired von Willebrand syndrome (AvWS) is kind of bleeding disorder with laboratory findings similar to those in congenital yon Willebrand disease (vWD).AvWS doesn's have any personal or family history of bleeding, but is associated with certain diseases or abnormal conditions or drugs. Although AvWS is being stated as a rare disease, it has gained more and more attention during the past years. Not because of the severity of the disease, but it is more common than we thought and most patients don' t have a proper diagnosis.
文摘目的 von Hippel-Lindau(VHL)综合征是一组罕见的多器官受累的常染色体显性遗传性疾病,临床表现复杂、易误诊。本文探讨VHL综合征的临床特点、CT及MRI特征,提高对本病的早期诊断和综合治疗水平。资料与方法回顾性分析5例VHL综合征患者的临床资料、CT及MRI表现,随访治疗后的结局。结果 5例VHL综合征患者中,小脑血管网织细胞瘤4例,其中1例合并脑干多发血管网织细胞瘤,颈髓多发血管网织细胞瘤1例,典型MRI表现为多发囊实性混杂信号,强化MRI呈实质部明显强化。肾透明细胞癌3例,典型CT表现为等或稍低密度肿块,强化CT可见肿块呈欠均匀强化。双侧附睾囊腺瘤1例,超声示双侧附睾囊实性肿物,实质部分回声不均匀且血流丰富。出院后随访至2015年1月,格拉斯哥预后评分恢复良好3例,死亡2例,均死于肾癌。结论 VHL综合征患者预后较差,肾癌为主要死亡原因。早期应对高度怀疑或已诊断为VHL综合征的患者行VHL基因检测分析并仔细询问其家族史,早期治疗、长期随访及定期影像学检查有助于改善患者预后。
