Humans ; von Hippel-Lindau Disease ; pathology

Humans ; Neuroendocrine Tumors/pathology* ; Pancreatic Neoplasms/pathology* ; Neoplasms, Second Primary ; von Hippel-Lindau Disease/pathology*

OBJECTIVETo study the clinicopathological characteristics of papillary cystadenoma of the epididymis.

METHODSUsing routine pathology and immunohistochemistry, we observed the surgically obtained samples from 2 cases of papillary cystadenoma of the epididymis, analyzed their pathological features and clinical presentations, and reviewed the related literature.

RESULTSThe 2 patients were both adult males. The tumors typically manifested as painless swelling in the epididymis, with occasionally dull pain and tenesmus in 1 of the cases. Pathologically, the lesions exhibited three morphological features, i. e., dilated ducts and small cysts surrounded by fibrous connective tissue, adenoid papillary hyperplasia into the cysts embraced by fibrovascular stroma, and acidophil substance present in the cysts. Immunohistochemistry showed that the tumors were strongly positive for CK8/18, CK7, and EMA, but negative for CK20, CEA, MC, Calretenin, P53, P63, SMA, VHL, and CD10, with the positive rate of Ki-67 <1%. Follow-up visits revealed good prognosis in both cases.

CONCLUSIONPapillary cystadenoma of the epididymis is a rare benign tumor in the male urogenital system, which may be accompanied by the VHL syndrome. Surgery is the first choice for its treatment.

Adult ; Cystadenoma, Papillary ; chemistry ; pathology ; Epididymis ; Genital Neoplasms, Male ; chemistry ; pathology ; Humans ; Immunohistochemistry ; Male ; von Hippel-Lindau Disease

Carcinoma, Renal Cell ; genetics ; metabolism ; pathology ; Humans ; Hypoxia-Inducible Factor 1, alpha Subunit ; genetics ; metabolism ; Kidney Neoplasms ; genetics ; metabolism ; pathology ; Loss of Heterozygosity ; Mutation ; Von Hippel-Lindau Tumor Suppressor Protein ; genetics ; metabolism ; von Hippel-Lindau Disease ; genetics ; metabolism ; pathology

Adult ; Female ; Follow-Up Studies ; Humans ; Kidney Neoplasms ; pathology ; surgery ; Male ; Middle Aged ; Prognosis ; von Hippel-Lindau Disease ; complications

OBJECTIVETo study the clinical characteristics and summary diagnostic and therapeutical experience of von Hippel-Lindau syndrome.

METHODSvon Hippel-Lindau syndrome genealogy and clinical characteristics was investigated. Then a dendrogram was drawn and a genetic analysis was performed. Last the diagnostic and therapeutical experience of von Hippel-Lindau syndrome was investigated according to literatures.

RESULTSThere are 6 members attacked by the von Hippel-Lindau syndrome of 5 generations which includes 42 members. Three patients underwent operation. Two of the three patients who suffered operation had been removed of right lobe of liver tumor and one cerebellar hemangioblastomas independently. The third patient sustained three operations for removal of three cerebellar hemangioblastomas and left renal clear cell carcinoma. Three patients died of this syndrome.

CONCLUSIONSThe characteristic of this kindred is according with that of autosomal dominant inheritance disease. Until now, von Hippel-Lindau syndrome involves in multisystem, the prognosis of this syndrome is not very well. However, patients and their family members may get much benefit from genetic testing, periodic surveillance, early diagnosis and prompt treatment.

Adult ; Child ; Female ; Humans ; Inheritance Patterns ; Male ; Middle Aged ; Pedigree ; Prognosis ; von Hippel-Lindau Disease ; genetics ; pathology ; surgery

OBJECTIVETo explore a technology for diagnosing VHL mutations from a single cell and provide experimental evidences for the feasibility of applying technology in detecting genetic mutations from a single cell.

METHODSAfter whole genome amplification (WGA) based on multiple displacement amplication (MDA) for a single cell, we did regular PCR following sequencing and detected the genotypes using the real time PCR based on TaqMan probes. We detected VHL mutations by the different terminal fluorescent changing.

RESULTSThe rate of amplification for single cell based on MDA was 90.91%. The rate of contamination was 0. After sequencing, the allele drop out (ADO) rate of heterozygotes was 26.67%(8/30); combined with the different terminal fluorescent changing, the rate of ADO of heterozygotes was 16.67%.

CONCLUSIONWGA based on MDA for a single cell followed by regular PCR with sequencing and real time PCR can specially and accurately detect the VHL genotypes of single cells.

Base Sequence ; DNA Mutational Analysis ; Female ; Genotype ; Humans ; Lymphocytes ; metabolism ; pathology ; Middle Aged ; Molecular Sequence Data ; Mutation ; Polymerase Chain Reaction ; Preimplantation Diagnosis ; Von Hippel-Lindau Tumor Suppressor Protein ; genetics ; von Hippel-Lindau Disease ; blood ; genetics

INTRODUCTIONGenetic predisposition to clear cell renal cell carcinoma (ccRCC) has been linked to disorders such as von Hippel-Lindau (VHL) syndrome. While twin research is a classic approach for elucidating genetic and environmental contributions to disease, no monozygotic twin-pair concordant for ccRCC in the absence of VHL syndrome has been previously reported in the literature or in major twin registries.

CLINICAL PICTUREWe describe a unique monozygotic twin-pair concordant for ccRCC, with discordant but early ages of onset of 25 and 38 respectively. Cytogenetic studies and direct sequencing for VHL gene mutations in the second twin proved unremarkable.

CONCLUSIONSThis is the fi rst reported case of monozygotic twins concordant for ccRCC in the absence of VHL gene mutation. The early yet discordant, age of onset of disease in both twins suggests both genetic and environmental contributions to ccRCC.

Adult ; Carcinoma, Renal Cell ; genetics ; pathology ; Diseases in Twins ; genetics ; pathology ; Humans ; Kidney Neoplasms ; genetics ; pathology ; Male ; Twins, Monozygotic ; von Hippel-Lindau Disease ; genetics

PURPOSE: Standard treatment of asymptomatic spinal cord hemangioblastoma in von Hippel-Lindau (VHL) disease has yet to be established. The purpose of this study was to propose guidelines for the treatment of asymptomatic spinal cord hemangioblastomas in VHL disease. MATERIALS AND METHODS: VHL disease patients treated for spinal cord hemangioblastomas between 1999 and 2009 were included. All spinal cord hemangioblastomas were divided into three groups: Group 1, asymptomatic tumors at initial diagnosis followed with serial imaging studies; Group 2, asymptomatic tumors at initial diagnosis that were subsequently resected; and Group 3, symptomatic tumors at initial diagnosis, all of which were resected. RESULTS: We identified 24 spinal cord hemangioblastomas in 12 patients. Groups 1, 2 and 3 comprised 13, 4 and 7 tumors, respectively. Group 1 exhibited a smaller tumor volume (257.1 mm3) and syrinx size (0.8 vertebral columns) than those of Group 2 (1304.5 mm3, 3.3 vertebral columns) and Group 3 (1787.4 mm3, 6.1 vertebral columns). No difference in tumor volume or syrinx size was observed between Groups 2 and 3. Five tumors in Group 1 were resected during follow-up because symptoms had developed or the tumor had significantly grown. Finally, among 17 asymptomatic tumors at the initial diagnosis, nine tumors were resected. Only one tumor of these nine tumors resulted in neurological deficits, while five of seven symptomatic tumors caused neurological deficits. CONCLUSION: Selective resection of asymptomatic tumors before they cause neurological deficits might bring about better outcomes.
Adult ; Aged ; Aged, 80 and over ; Female ; Hemangioblastoma/etiology/*pathology/*surgery ; Humans ; Male ; Middle Aged ; Treatment Outcome ; von Hippel-Lindau Disease/*complications

Adenoma ; metabolism ; pathology ; Adult ; Carcinoma, Renal Cell ; metabolism ; pathology ; Diagnosis, Differential ; Ear Neoplasms ; complications ; genetics ; metabolism ; pathology ; surgery ; Endolymphatic Sac ; Female ; Follow-Up Studies ; Humans ; Kidney Neoplasms ; metabolism ; pathology ; Middle Aged ; Paraganglioma ; metabolism ; pathology ; Point Mutation ; Von Hippel-Lindau Tumor Suppressor Protein ; genetics ; von Hippel-Lindau Disease ; complications ; genetics ; metabolism