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Search on : von and Hippel-Lindau and Disease [Words]
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[PMID]: 29294023
[Au] Autor:Tirosh A; Lakis ME; Green P; Nockel P; Patel D; Nilubol N; Gara SK; Keutgen XM; Linehan WM; Kebebew E
[Ad] Address:Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
[Ti] Title:In-silico VHL Gene Mutation Analysis and Prognosis of Pancreatic Neuroendocrine Tumors in von Hippel-Lindau Disease.
[So] Source:J Clin Endocrinol Metab;, 2017 Dec 26.
[Is] ISSN:1945-7197
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Context: Patients with vHL disease caused by a missense VHL mutation have a more severe phenotype compared with other VHL mutation types. Objective: To define PNET aggressiveness according to VHL genotype. Design: A prospective natural history study. Setting: The NIH clinical center. Patients: Patients with vHL disease, pancreatic manifestations, and germline missense VHL gene mutation. Intervention: In silico prediction of VHL mutation using five computational prediction models. Patients with > 80% prediction for disease-causing mutations in all models (high predicted risk (HPR)) were compared with others (low predicted risk (LPR)). Main Outcome Measure: Rates of metastases, surgical intervention and disease progression. Results: 69 patients were included: 2 developed metastases, 12 required surgery, and 31 had disease progression during a median follow-up of 60 months (range 13-84). Thirteen patients were excluded for low prediction reliability. In the remaining 56 patients (45 with PNETs, 11 with pancreatic cysts), HPR group (n=13) had a higher rate of disease progression than the LPR group (n=43) in multivariable analysis (hazard ratio 3.6, 95% CI 1.1-11.9, P = 0.037). The HPR group also had a higher risk of developing metastases (P = 0.015). Among patients with codon 167 hotspot mutations (n = 26), those in the HPR group had a higher risk for disease progression (P = 0.03) compared to other patients. Conclusions: Computational models for predicting the impact of missense VHL gene mutations may be used as a prognostic factor in patients with PNETs in the context of vHL disease.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1210/jc.2017-02434

  2 / 3639 MEDLINE  
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[PMID]: 29510814
[Au] Autor:Binderup MLM
[Ad] Address:mlmb@sund.ku.dk.
[Ti] Title:von Hippel-Lindau disease: Diagnosis and factors influencing disease outcome.
[So] Source:Dan Med J;65(3), 2018 Mar.
[Is] ISSN:2245-1919
[Cp] Country of publication:Denmark
[La] Language:eng
[Ab] Abstract:von Hippel-Lindau disease (vHL) is a hereditary tumor predisposition caused by mutations in the VHL tumor suppressor gene. VHL mutation-carriers are at life-long risk of multi-organ tumor development. The mainstay of vHL management is close surveillance and surgical tumor removal. The disease has been reported to be fully penetrant at 60 years of age, and has a highly variable phenotype, which complicates vHL management and causes distress and uncertainty for affected families. vHL survival has historically been poorer than the survival of the general population, with a median life expectancy for vHL patients of only 49 years. vHL life expectancy is expected to be improved by better surveillance, tumor diagnosis, and treatment approaches, although this has not
yet been directly demonstrated. The prevalence of vHL is between 1 in 39,000 and 1 in 91,000 individuals, and the birth incidence is between 1 in 36,000 and 1 in 45,500 live births in different populations. Based on these estimates, vHL is underdiagnosed in Denmark, and many undiagnosed families are not offered genetic counseling or prophylactic surveillance.
We aimed to assess 1) how the rate of new manifestation development is influenced by age, sex, genotype, tumor location, and pregnancy, 2) how vHL survival has developed over time, and is affected by sex, genotype, and surveillance attendance, 3) to determine the prevalence and incidence of vHL, and 4) to calculate vHL penetrance based on an unselected national cohort. 
We included almost all diagnosed vHL patients in Denmark in a retrospective cohort study. We further used the national health registers to find individuals who had a missed vHL diagnosis despite fulfilling the clinical diagnostic criteria.
We found that the risk of new vHL manifestations varies with age, genotype, and tumor location. The risk of new retinal tumors is highest in the patients' teenage years, while cerebellar tumors developed at the highest rates in patients' thirties. Patients with truncating mutations had higher rates of new manifestation diagnosis than patients with missense mutations. Men tend to have higher manifestation rates in adulthood compared to women, and pregnancy was associated with a lower frequency of new manifestations. vHL survival has improved over time, and is getting closer to that of their siblings without vHL and the general population. Survival is significantly influenced by a patient's birth year, sex, and genotype. We estimate the mean life expectancy of VHL mutation-carriers born in 2000 to be 67 years for men and 60 years for women. We estimate the vHL prevalence to be about 1 in 46,900 individuals and the birth incidence to be about 1 in 27,300 live births. We found a penetrance at age 60 of 87%, and only 80% among pa-tients who have not attended surveillance prior to diagnosis, which is considerably lower than previous estimates. 
Our findings form the basis of a more targeted vHL surveillance and counseling. The lower age-related penetrance greatly influences risk assessment in a clinical genetic setting. Even though the prevalence has increased over recent years, vHL is still underdiagnosed, and there is a need for increased awareness about the disease.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Process

  3 / 3639 MEDLINE  
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[PMID]: 29290462
[Au] Autor:Lefevre A; Mathis T; Denis P; Kodjikian L
[Ad] Address:Service d'ophtlamologie, hpital de la Croix-Rousse, 103, Grande-Rue de la Croix-Rousse, 69004 Lyon, France; Universit Lyon-1, 8, avenue Rockefeller, 69003 Lyon, France.
[Ti] Title:Hmangioblastomes rtiniens: stratgie thrapeutique et suivi long terme dans une cohorte rtrospective. [Retinal hemangioblastoma: Treatment strategy and long-term follow-up in a retrospective cohort].
[So] Source:J Fr Ophtalmol;41(2):164-169, 2018 Feb.
[Is] ISSN:1773-0597
[Cp] Country of publication:France
[La] Language:fre
[Ab] Abstract:INTRODUCTION: Retinal hemangioblastoma (RH) is a benign vascular tumor frequently associated with Von Hippel-Lindau disease (VHL). Tumor growth of RH may lead to deterioration of visual acuity, which can be difficult to treat. Early diagnosis may reduce complication rate and side effects of treatment. The present retrospective study evaluates the long-term follow-up and complications of RH treatment as a function of the therapeutic strategy used. MATERIALS AND METHODS: The study included patients with RH, followed at Croix Rousse university hospital, Lyon between 2010 and 2017. The following clinical features were recorded: age at diagnosis, presenting symptom, presence of VHL disease, treatments used, post-therapeutic complications and visual outcomes. RESULTS: Seven eyes of five patients were included in our study. Eighty percent of the patients had a mutation in the VHL gene. Four eyes (57%) were treated with laser photocoagulation and three eyes (43%) were treated with cryotherapy. The mean duration of follow-up was 35 months. One of the eyes treated using laser photocoagulation was complicated by an early epiretinal membrane with no visual consequence. Of the eyes treated by cryoapplication, one was complicated by a vitreous hemorrhage, and another by a rhegmatogenous retinal detachment, both of which resulted in a decrease in visual acuity. CONCLUSION: The long-term outcome for patients treated for RH was relatively good. Complications were strongly correlated with the initial size of the vascular tumor. Early diagnosis seems to improve visual outcomes. Ophthalmologic monitoring should be part of the systemic, multidisciplinary management.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:In-Process

  4 / 3639 MEDLINE  
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[PMID]: 29501019
[Au] Autor:Endo Y; Kitago M; Miyajima A; Kurihara I; Kameyama K; Shinoda M; Yagi H; Abe Y; Hibi T; Takagi C; Nakano Y; Koizumi W; Itano O; Kitagawa Y
[Ad] Address:Department of Surgery, Keio University School of Medicine, Tokyo, Japan.
[Ti] Title:Two-stage resection of a bilateral pheochromocytoma and pancreatic neuroendocrine tumor in a patient with von Hippel-Lindau disease: A case report.
[So] Source:Int J Surg Case Rep;44:139-142, 2018 Feb 16.
[Is] ISSN:2210-2612
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:INTRODUCTION: von Hippel-Lindau disease (vHL disease) is a hereditary disease in which tumors and cysts develop in many organs, in association with central nervous system hemangioblastomas, pheochromocytomas, and pancreatic tumors. We herein report a case of vHL disease (type 2A) associated with bilateral pheochromocytomas, pancreatic neuroendocrine tumors (PNET), and cerebellar hemangioblastomas treated via pancreatectomy after adrenalectomy. CASE PRESENTATION: A 51-year-old woman presented with a cerebellar tumor, bilateral hypernephroma, and pancreatic tumor detected during a medical checkup. 18F-fluorodeoxyglucose positron emission tomography-computed tomography revealed a bilateral adrenal gland tumor and a tumor in the head of the pancreas, while an abdominal computed tomography examination revealed a 30-mm tumor with strong enhancement in the head of the pancreas. Cranial magnetic resonance imaging showed a hemangioblastoma in the cerebellum. Therefore, a diagnosis of vHL disease (type 2A) was made. Her family medical history included renal cell carcinoma in her father and bilateral adrenal pheochromocytoma and spinal hemangioblastoma in her brother. A detailed examination of endocrine function showed that the adrenal mass was capable of producing catecholamine. Treatment of the pheochromocytoma was prioritized, and therefore, laparoscopic left adrenalectomy and subtotal resection of the right adrenal gland were performed. Once the postoperative steroid levels were replenished, subtotal stomach-preserving pancreatoduodenectomy was performed for the PNET. After a good postoperative course, the patient was discharged in remission on the 11th day following surgery. Histopathological examination findings indicated NET G2 (MIB-1 index 10-15%) pT3N0M0 Stage II A and microcystic serous cystadenoma throughout the resected specimen. The patient is scheduled to undergo treatment for the cerebellar hemangioblastoma. CONCLUSION: A two-staged resection is a safe and effective treatment option for bilateral pheochromocytoma and PNET associated with vHL disease.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180303
[Lr] Last revision date:180303
[St] Status:Publisher

  5 / 3639 MEDLINE  
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[PMID]: 29491307
[Au] Autor:Miki M; Kawabe K; Igarashi H; Abe T; Ohishi Y; Hashimoto R; Karashima T; Yamasaki I; Inoue K; Ito T; Ogawa Y
[Ad] Address:Department of Medicine and Bioregulatory Science, Graduate School of Medical Sciences, Kyushu University, Japan.
[Ti] Title:An Advanced well-differentiated Pancreatic Neuroendocrine Carcinoma (NET-G3) Associated with Von Hippel-Lindau Disease.
[So] Source:Intern Med;, 2018 Feb 28.
[Is] ISSN:1349-7235
[Cp] Country of publication:Japan
[La] Language:eng
[Ab] Abstract:A 45-year old woman who underwent several surgeries for tumors associated with von Hippel Lindau disease (VHL) was referred to our hospital due to a pancreatic tumor and liver tumors. She was diagnosed with pancreatic neuroendocrine tumor (NET) with a Ki67 index of 40% based on the examination of a biopsy specimen of the liver tumors. She was treated with everolimus for 6 months and sunitinib for 6 weeks as first- and second-line therapies. She survived for 13 months. At autopsy the diagnosis of pancreatic neuroendocrine tumor (NET)-G3 was confirmed. We herein report an aggressive clinical course of VHL-related NET G3. The further accumulation of cases is required to reach a consensus on treatment for this disease.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:Publisher
[do] DOI:10.2169/internalmedicine.0416-17

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[PMID]: 29467323
[Au] Autor:Arreola A; Payne LB; Julian MH; de Cubas AA; Daniels AB; Taylor S; Zhao H; Darden J; Bautch VL; Rathmell WK; Chappell JC
[Ad] Address:Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill (UNC-CH), Chapel Hill, North Carolina, USA.
[Ti] Title:Von Hippel-Lindau mutations disrupt vascular patterning and maturation via Notch.
[So] Source:JCI Insight;3(4), 2018 Feb 22.
[Is] ISSN:2379-3708
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Von Hippel-Lindau (VHL) gene mutations induce neural tissue hemangioblastomas, as well as highly vascularized clear cell renal cell carcinomas (ccRCCs). Pathological vessel remodeling arises from misregulation of HIFs and VEGF, among other genes. Variation in disease penetrance has long been recognized in relation to genotype. We show Vhl mutations also disrupt Notch signaling, causing mutation-specific vascular abnormalities, e.g., type 1 (null) vs. type 2B (murine G518A representing human R167Q). In conditional mutation retina vasculature, Vhl-null mutation (i.e., UBCCreER/+Vhlfl/fl) had little effect on initial vessel branching, but it severely reduced arterial and venous branching at later stages. Interestingly, this mutation accelerated arterial maturation, as observed in retina vessel morphology and aberrant α-smooth muscle actin localization, particularly in vascular pericytes. RNA sequencing analysis identified gene expression changes within several key pathways, including Notch and smooth muscle cell contractility. Notch inhibition failed to reverse later-stage branching defects but rescued the accelerated arterialization. Retinal vessels harboring the type 2B Vhl mutation (i.e., UBCCreER/+Vhlfl/2B) displayed stage-specific changes in vessel branching and an advanced progression toward an arterial phenotype. Disrupting Notch signaling in type 2B mutants increased both artery and vein branching and restored arterial maturation toward nonmutant levels. By revealing differential effects of the null and type 2B Vhl mutations on vessel branching and maturation, these data may provide insight into the variability of VHL-associated vascular changes - particularly the heterogeneity and aggressiveness in ccRCC vessel growth - and also suggest Notch pathway targets for treating VHL syndrome.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180228
[Lr] Last revision date:180228
[St] Status:Publisher

  7 / 3639 MEDLINE  
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[PMID]: 29478617
[Au] Autor:Perlman S
[Ad] Address:Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, United States. Electronic address: sperlman@mednet.ucla.edu.
[Ti] Title:Von Hippel-Lindau disease and Sturge-Weber syndrome.
[So] Source:Handb Clin Neurol;148:823-826, 2018.
[Is] ISSN:0072-9752
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:The primary neurologic involvement in both von Hippel-Lindau (VHL) disease and Sturge-Weber syndrome (SWS) is vascular tumor/vascular malformation, but molecular pathogenesis, long-term symptom evolution, and treatment are quite different. VHL is caused by dominant inherited or de novo germline mutations, while SWS is caused by somatic mosaicism. A diagnosis of VHL carries substantial cancer risk, while the clinical issues in SWS are primarily related to the consequences of the intracranial vascular abnormalities.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180226
[Lr] Last revision date:180226
[St] Status:In-Process

  8 / 3639 MEDLINE  
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[PMID]: 29229339
[Au] Autor:Kuharic M; Jankovic D; Splavski B; Boop FA; Arnautovic KI
[Ad] Address:Osijek University School of Medicine, Osijek, Croatia.
[Ti] Title:Hemangioblastomas of the Posterior Cranial Fossa in Adults: Demographics, Clinical, Morphologic, Pathologic, Surgical Features, and Outcomes. A Systematic Review.
[So] Source:World Neurosurg;110:e1049-e1062, 2018 Feb.
[Is] ISSN:1878-8769
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Posterior cranial fossa (PCF) hemangioblastomas are benign, highly vascularized, and well-differentiated tumors with well-described histopathologic features. Although relatively rare, this tumor is the most prevalent primary tumor of the cerebellum in adults. OBJECTIVE: Because the demographics of patients with such a tumor (as well as the clinical, morphologic, pathologic, surgical features, and outcomes) are not fully understood, we systematized characteristic patient and tumor features. METHODS: We undertook a systematic review of the English-language literature in PubMed for PCF hemangioblastomas in adults published in the past 31 years. We analyzed geographic distribution and year of publication of articles; demographic data of patients; presenting symptoms and clinical signs; tumor location and morphology; histopathologic features, extent of tumor resection, perioperative blood loss, and postoperative complications; length of hospital stay; and outcomes. RESULTS: We reviewed 207 articles describing 1759 infratentorial hemangioblastomas in a cohort of 1515 adult patients. We found female predominance in patients with Von Hippel-Lindau disease (VHLD) compared with male predominance in the general patient group. Symptoms of intracranial hypertension were more common in the VHLD group compared with the general group of patients. The cerebellar location was more common in the VHLD group and solid (parenchymatous) tumor was the most common type. Most patients underwent total resection but rate of resection did not differ between the general and VHLD groups. Most patients had a favorable outcome. CONCLUSIONS: The literature of adult PCF hemangioblastomas is limited and general surgical experience with such tumors is scarce because of their rarity. Rates of postoperative complications and mortality remain higher than expected. However, prognosis and surgical outcomes are generally favorable. Nevertheless, surgery of adult PCF hemangioblastomas is a demanding and challenging task.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180213
[Lr] Last revision date:180213
[St] Status:In-Data-Review

  9 / 3639 MEDLINE  
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[PMID]: 29239102
[Au] Autor:Qi Y; Zhang Y; Peng Z; Wang L; Wang K; Feng D; He J; Zheng J
[Ad] Address:Department of Biochemistry and Molecular Biology, Capital Medical University, Beijing, China.
[Ti] Title:SERPINH1 overexpression in clear cell renal cell carcinoma: association with poor clinical outcome and its potential as a novel prognostic marker.
[So] Source:J Cell Mol Med;22(2):1224-1235, 2018 Feb.
[Is] ISSN:1582-4934
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Precision therapy for clear cell renal cell carcinoma (ccRCC) requires molecular biomarkers ascertaining disease prognosis. In this study, we performed integrated proteomic and transcriptomic screening in all four tumour-node-metastasis stages of ccRCC and adjacent normal tissues (n=18) to investigate differentially expressed genes. Most identified differentially expressed genes revealed a strong association with transforming growth factor- level and the epithelial-to-mesenchymal transition process. Of them, Serpin peptidase inhibitor clade H member 1 (SERPINH1) revealed the strongest association with poor prognosis and regulation on the expression levels of epithelial-to-mesenchymal transition markers. Subsequently, two independent sets (n=532 and 105) verified the high level of SERPINH1 in ccRCC tissues and its association with reduced overall survival and disease-free survival in all tumour-node-metastasis stages and patients with von Hippel-Lindau wild-type (VHL-WT). SERPINH1 was an independent predictor of poor overall survival (hazard ratio 0.696 for all patients) and disease-free survival (hazard ratio 0.433 for all patients and 0.362 for patients with VHL-WT) in ccRCC. We have thus shown for the first time that SERPINH1 is an independent precision predictor for unfavourable prognosis in ccRCC. This could assist in identifying patients who need early aggressive management and deepen our understanding of the pathogenesis of VHL-WT ccRCC.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[St] Status:In-Data-Review
[do] DOI:10.1111/jcmm.13495

  10 / 3639 MEDLINE  
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[PMID]: 28742274
[Au] Autor:Ma D; Yang J; Wang Y; Huang X; Du G; Zhou L
[Ad] Address:Department of Neurosurgery, Huashan Hospital, Fudan University, Shanghai, China.
[Ti] Title:Whole exome sequencing identified genetic variations in Chinese hemangioblastoma patients.
[So] Source:Am J Med Genet A;173(10):2605-2613, 2017 Oct.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Hemangioblastomas (HBs) are uncommon tumors characterized by the presence of inactivating alterations in the von Hippel-Lindau (VHL) gene in inherited cases and by infrequent somatic mutation in sporadic entities. We performed whole exome sequencing on 11 HB patients to further elucidate the genetics of HBs. A total of 270 somatic variations in 219 genes, of which there were 86 mutations in 67 genes, were found in sporadic HBs, and 184 mutations were found in 154 genes in familial HBs. C: G>T: A and T: A>C: G mutations are relatively common in most HB patients. Genes harboring the most significant mutations include PCDH9, KLHL12, DCAF4L1, and VHL in sporadic HBs, and ZNF814, DLG2, RIMS1, PNN, and MUC7 in familial HBs. The frequency of CNV varied considerably within sporadic HBs but was relatively similar within familial HBs. Five genes, including OTOGL, PLCB4, SCEL, THSD4, and WWOX, have CNVs in the six patients with sporadic HBs, and three genes, including ABCA6, CWC27, and LAMA2, have CNVs in the five patients with familial HBs. We found new genetic mutations and CNVs that might be involved in HBs; these findings highlight the complexity of the tumorigenesis of HBs and pinpoint potential therapeutic targets for the treatment of HBs.
[Mh] MeSH terms primary: Asian Continental Ancestry Group/genetics
Biomarkers, Tumor/genetics
Cerebellar Neoplasms/genetics
Exome/genetics
Hemangioblastoma/genetics
Mutation
Whole Exome Sequencing/methods
[Mh] MeSH terms secundary: Adult
Female
Genetic Predisposition to Disease
Humans
Male
Middle Aged
Prognosis
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Biomarkers, Tumor)
[Em] Entry month:1802
[Cu] Class update date: 180207
[Lr] Last revision date:180207
[Js] Journal subset:IM
[Da] Date of entry for processing:170726
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38350


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