4,340 results match your criteria Von Hippel-Lindau Syndrome


Phacomatoses in the pediatric age group.

Childs Nerv Syst 2020 Jul 13. Epub 2020 Jul 13.

Centre of Neurofibromatosis at the Centre of Rare Diseases, Tübingen University Hospital, Tübingen, Germany.

The most common phacomatoses in children that need surgical attention are neurofibromatosis 1 and 2, tuberous sclerosis complex, Sturge-Weber disease, Von Hippel-Lindau disease, and neurocutaneous melanocytosis. All are rare and, as genetically determined disorders, all complex multisystem diseases with multiple manifestations outside the CNS. Diagnostics, management recommendations, and surgical care are age-specific and require individualization. Read More

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http://dx.doi.org/10.1007/s00381-020-04794-1DOI Listing

[Kidney Cysts and Cystic Nephropathies in Children - A Consensus Guideline by 10 German Medical Societies].

Klin Padiatr 2020 Jul 13. Epub 2020 Jul 13.

Center for Pediatrics and Adolescent Medicine, Division of Pediatric Nephrology, University Hospital Heidelberg, Heidelberg.

This consensus-based guideline was developed by all relevant German pediatric medical societies. Ultrasound is the standard imaging modality for pre- and postnatal kidney cysts and should also exclude extrarenal manifestations in the abdomen and internal genital organs. MRI has selected indications. Read More

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http://dx.doi.org/10.1055/a-1179-0728DOI Listing

Inherited syndromes involving pancreatic neuroendocrine tumors.

J Gastrointest Oncol 2020 Jun;11(3):559-566

Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.

Inherited syndromes are important to recognize in the setting of a pancreatic neuroendocrine tumor (PNET) as there are significant implications for the patient's medical management and opportunity for early detection of subsequent manifestations. Although most PNETs are sporadic, approximately 10% are due to an inherited syndrome, which include multiple endocrine neoplasia type 1 (MEN1), multiple endocrine neoplasia type 4 (MEN4), von Hippel-Lindau disease (VHL), neurofibromatosis type 1 (NF1), and tuberous sclerosis complex (TSC). The general hallmarks of a hereditary endocrine neoplasia predisposition syndrome include any one of the following: multiple primary tumors (in the same or different organs), rare tumors (prevalence of less than 1 in 1,000 people in the general population), earlier age of diagnosis (usually under the age of 40), characteristic pattern of disease in the individual or family (phenotype and inheritance pattern). Read More

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http://dx.doi.org/10.21037/jgo.2020.03.09DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7340802PMC

Pheochromocytoma: A three-decade clinical experience in a multicenter study.

Rev Clin Esp 2020 Jul 6. Epub 2020 Jul 6.

Servicio de Endocrinología, Hospital Universitario Ramón y Cajal, Madrid, España; Servicio de Endocrinología, Hospital Universitario Puerta de Hierro, Majadahonda, Madrid, España.

Objective: To analyze the clinical and analytical features, diagnostic tests, therapies, and outcomes of pheochromocytoma (PCC).

Design And Methods: A multicenter retrospective study in surgically treated patients with PCC followed in 3 Spanish tertiary referral hospitals.

Results: A total of 106 patients (61 [57. Read More

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http://dx.doi.org/10.1016/j.rce.2019.12.016DOI Listing

Stereotactic Dorsolateral Irradiation of Spinal Nerve Roots: A Novel Technique for the Treatment of Spasticity and Pain.

Cureus 2020 May 27;12(5):e8323. Epub 2020 May 27.

Radiation Oncology, Cyberknife Center, Centro Diagnostico Italiano, Milano, ITA.

Selective dorsal rhizotomy is an established surgical treatment to improve the neurological and functional status of children with spastic cerebral palsy and adults with spasticity and pain caused by a variety of brain and spinal injuries. This procedure requires a dorsolumbar laminectomy to expose the appropriate dorsal rootlets, which are sectioned according to the presence of sustained electromiographic discharges. Image-guided robotic radiosurgery targeting the intracisternal sensory root of the trigeminal nerve has been described as a safe and effective non-invasive treatment for trigeminal neuralgia, a paroxystic pain disorder which often responds poorly to medical therapy. Read More

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http://dx.doi.org/10.7759/cureus.8323DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325386PMC

Von Hippel-Lindau Disease: Current Challenges and Future Prospects.

Onco Targets Ther 2020 16;13:5669-5690. Epub 2020 Jun 16.

Department of Pathology, Indiana University-Purdue University, Indianapolis, IN, USA.

Understanding of molecular mechanisms of tumor growth has an increasing impact on the development of diagnostics and targeted therapy of human neoplasia. In this review, we summarize the current knowledge on molecular mechanisms and their clinical implications in von Hippel-Lindau (VHL) disease. This autosomal dominant tumor syndrome usually manifests in young adulthood and predisposes affected patients to the development of benign and malignant tumors of different organ systems mainly including the nervous system and internal organs. Read More

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http://dx.doi.org/10.2147/OTT.S190753DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7305855PMC

The pVHL neglected functions, a tale of hypoxia-dependent and -independent regulations in cancer.

Open Biol 2020 07 1;10(7):200109. Epub 2020 Jul 1.

Department of Biomedical Sciences, University of Padova, Viale G. Colombo 3, 35121 Padova, Italy.

The von Hippel-Lindau protein (pVHL) is a tumour suppressor mainly known for its role as master regulator of hypoxia-inducible factor (HIF) activity. Functional inactivation of pVHL is causative of the von Hippel-Lindau disease, an inherited predisposition to develop different cancers. Due to its impact on human health, pVHL has been widely studied in the last few decades. Read More

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http://dx.doi.org/10.1098/rsob.200109DOI Listing

Primary and secondary retinal capillary haemangioma in Mexico.

Arch Soc Esp Oftalmol 2020 Jun 26. Epub 2020 Jun 26.

Departamento de Retina y Vítreo, Fundación Hospital Nuestra Señora de la Luz, IAP, Ciudad de México, México.

A series is presented of 16 cases of retinal capillary haemangioma from consecutive patients at an ophthalmology teaching hospital in Mexico City. There were 7 primary haemangioblastomas, and 9 due to von Hippel-Lindau disease. All cases associated with this disease already had systemic manifestations, such as cerebellar, medullary and renal tumours. Read More

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http://dx.doi.org/10.1016/j.oftal.2020.05.024DOI Listing

Ubiquitination of PPAR-gamma by pVHL inhibits ACLY expression and lipid metabolism, is implicated in tumor progression.

Metabolism 2020 Jun 24;110:154302. Epub 2020 Jun 24.

Korea Research Institute of Bioscience and Biotechnology (KRIBB), 125 Gwahak-ro, Daejeon, Republic of Korea; Department of Functional Genomics, Korea University of Science and Technology (UST), 217 Gajeong-ro, Daejeon, Republic of Korea. Electronic address:

Background: Intracellular lipid accumulation is associated with various diseases, particularly cancer. Mitochondrial dysfunction is considered as a cause of lipid accumulation; however, the related underlying mechanism remains unclear.

Findings: We found that Von Hippel-Lindau (VHL)-deficiency led to lipid accumulation and mitochondrial dysfunction in renal cell carcinoma cells. Read More

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http://dx.doi.org/10.1016/j.metabol.2020.154302DOI Listing

Macrophage HIF-1α is an independent prognostic indicator in kidney cancer.

Clin Cancer Res 2020 Jun 25. Epub 2020 Jun 25.

Pharmacology and Toxicology, University of Utah

Purpose: Clear cell renal cell carcinoma (ccRCC) is frequently associated with inactivation of the von Hippel Lindau tumor suppressor, resulting in activation of HIF-1α and HIF-2α. The current paradigm, established using mechanistic cell-based studies, supports a tumor promoting role for HIF-2α, and a tumor suppressor role for HIF-1α. However, few studies have comprehensively examined the clinical relevance of this paradigm. Read More

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http://dx.doi.org/10.1158/1078-0432.CCR-19-3890DOI Listing
June 2020
8.722 Impact Factor

CircPDE4B inhibits retinal pathological angiogenesis via promoting degradation of HIF-1α though targeting miR-181c.

IUBMB Life 2020 Jun 25. Epub 2020 Jun 25.

Department of Pediatric Ophthalmology, The Second Affiliated Hospital of Nanchang University, Nanchang, Jiangxi, China.

Retinopathy of prematurity is a major cause of childhood blindness worldwide. Hence, exploring the proper treatment methods is a must in tacking this disease. qRT-PCR and western blot were used to detect the expression of genes and proteins, respectively. Read More

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http://dx.doi.org/10.1002/iub.2307DOI Listing

Retinal Artery Macroaneurysm Associated With Retinal Hemangioblastoma.

Ophthalmic Surg Lasers Imaging Retina 2020 06;51(6):365-366

A 34-year-old Caucasian woman with a past medical history of hypertension presented with acute floaters in the right eye (OD) for 1 week. Best-corrected visual acuity (VA) was 20/20 in both eyes. Fundus examination OD (Figure 1) revealed a retinal hemangioblastoma (RH) in the temporal midperiphery with a prominent feeding artery and draining vein. Read More

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http://dx.doi.org/10.3928/23258160-20200603-07DOI Listing

Von Hippel-Lindau syndrome and renal tumours: radiological diagnostic and treatment options. A case report and literature review.

Acta Med Litu 2020 ;27(1):25-32

National Cancer Institute, Vilnius, Lithuania.

Background: Von Hippel-Lindau disease (VHL) is a rare autosomal dominant syndrome diagnosed for 1 out of 36000-45000 newborns and 90% of the patients have a clinical manifestation before 65 years of age. Affected individuals have an increased risk of developing tumours in several organs or their systems. The most common tumours are retinal or central nervous system hemangioblastomas (60-80%) and VHL-associated renal lesions. Read More

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http://dx.doi.org/10.6001/actamedica.v27i1.4263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7305806PMC
January 2020

VHL-RELATED NEUROENDOCRINE NEOPLASMS AND BEYOND: AN ISRAELI SPECIALIZED CENTER REAL-LIFE REPORT.

Endocr Pract 2020 Jun 23. Epub 2020 Jun 23.

From: Neuroendocrine Tumor Unit, Department of Endocrinology, ENETS Centre of Excellence.

Objective: Von Hippel-Lindau (VHL) syndrome is a rare and complex disease. We described in 1996 a three generation VHL 2A kindred with 11 mutation carriers. We aim to share our experience regarding the long-term follow-up of this family and the management of all our other VHL patients focusing on frequently encountered neuroendocrine tumors: pheochromocytoma/paraganglioma and pancreatic neuroendocrine neoplasms (PNEN). Read More

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http://dx.doi.org/10.4158/EP-2020-0220DOI Listing

Juxtapapillary Capillary Retinal Angioma and Epiretinal Membrane Management in a Monocular Patient with Von Hippel-Lindau Syndrome.

Retin Cases Brief Rep 2020 Jun 10. Epub 2020 Jun 10.

University Hospitals Eye Institute, Case Western Reserve University Cleveland, Ohio.

Purpose: To report a case of von Hippel-Lindau (VHL) syndrome in a monocular patient with progressive vision loss due to Juxtapapillary Capillary Retinal Angioma and epiretinal membrane (ERM).

Patient: We describe a 37-year-old white male patient with von Hippel-Lindau (VHL) syndrome who presented for retinal evaluation. The right eye was blind with NLP vision. Read More

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http://dx.doi.org/10.1097/ICB.0000000000001021DOI Listing

Cerebral Hemangioblastoma Without Von Hippel-Lindau Syndrome: A Report of 6 Cases.

Int J Surg Pathol 2020 Jun 14:1066896920933998. Epub 2020 Jun 14.

Department of Neurosurgery, The First Hospital of Jilin University, Changchun, China.

. Hemangioblastoma occurs mainly in the cerebellum and rarely in the cerebrum. . Read More

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http://dx.doi.org/10.1177/1066896920933998DOI Listing

Caveolin-1 inhibits breast cancer stem cells via c-Myc-mediated metabolic reprogramming.

Cell Death Dis 2020 Jun 11;11(6):450. Epub 2020 Jun 11.

Integrative Research Laboratory of Breast Cancer, the Research Center for Integrative Cancer Medicine, Discipline of Integrated Chinese and Western Medicine & the Second Clinical College of Guangzhou University of Chinese Medicine, Guangzhou, 510006, China.

Breast cancer stem cells (BCSCs) are considered to be the root of breast cancer occurrence and progression. However, the characteristics and regulatory mechanisms of BCSCs metabolism have been poorly revealed, which hinders the development of metabolism-targeted treatment strategies for BCSCs elimination. Herein, we demonstrated that the downregulation of Caveolin-1 (Cav-1) usually occurred in BCSCs and was associated with a metabolic switch from mitochondrial respiration to aerobic glycolysis. Read More

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http://dx.doi.org/10.1038/s41419-020-2667-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7290025PMC

Beyond glycolysis: Hypoxia signaling as a master regulator of alternative metabolic pathways and the implications in clear cell renal cell carcinoma.

Cancer Lett 2020 Jun 5;489:19-28. Epub 2020 Jun 5.

Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA. Electronic address:

The relationship between kidney cancer, specifically clear cell renal cell carcinoma (ccRCC), and the hypoxia signaling program has been extensively characterized. Its underlying role as the primary driver of the disease has led to the development of the most effective targeted therapies to date. Cellular responses to hypoxia or mutations affecting the von Hippel-Lindau (VHL) tumor suppressor gene stabilize the hypoxia inducible factor (HIF) transcription factors which then orchestrate elaborate downstream signaling events resulting in adaptations to key biological processes, such as reprogramming metabolism. Read More

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http://dx.doi.org/10.1016/j.canlet.2020.05.034DOI Listing

History of the multiple endocrine neoplasia workshops and overview of MEN2019.

Endocr Relat Cancer 2020 Jun 1. Epub 2020 Jun 1.

R Gagel, Department of Endocrine Neoplasia and Hormonal Disorders, University of Texas MD Anderson Cancer Center, Houston, United States.

The multiple endocrine neoplasia (MEN) workshops had their beginnings at Queen's University in Kingston, Ontario in June, 1984. This initial meeting brought clinicians and scientists together to focus on mapping the gene for multiple endocrine neoplasia type 2 (MEN2). These efforts culminated in the identification of the RET protooncogene as the causative gene a decade later. Read More

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http://dx.doi.org/10.1530/ERC-20-0201DOI Listing

Hemangioblastoma and von Hippel-Lindau disease: genetic background, spectrum of disease, and neurosurgical treatment.

Childs Nerv Syst 2020 Jun 7. Epub 2020 Jun 7.

Department of Neurosurgery, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Breisacher Str. 64, 79106, Freiburg, Germany.

Introduction: Hemangioblastomas are rare, histologically benign, highly vascularized tumors of the brain, the spinal cord, and the retina, occurring sporadically or associated with the autosomal dominant inherited von Hippel-Lindau (VHL) disease. Children or adults with VHL disease have one of > 300 known germline mutations of the VHL gene located on chromosome 3. They are prone to develop hemangioblastomas, extremely rarely starting at age 6, rarely at age 12-18, and, typically and almost all, as adults. Read More

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http://dx.doi.org/10.1007/s00381-020-04712-5DOI Listing

Epidemiology of Renal Cell Carcinoma.

World J Oncol 2020 Jun 14;11(3):79-87. Epub 2020 May 14.

Allegheny Health Network, Pittsburgh, PA, USA.

Though renal cell carcinoma (RCC) accounts for 2% of global cancer diagnoses and deaths, it has more than doubled in incidence in the developed world over the past half-century, and today is the ninth most common neoplasm in the United States (US). While North America and Western Europe have the highest disease burden (with the Belarus highest in incidence), Latin America, Asia and Africa are projected to see an increase in incidence as nation's transition to a Western lifestyle. Most cases of RCC are discovered incidentally on imaging, and survival is highly dependent on the stage at diagnosis, with the metastatic disease having only a 12% 5-year survival rate. Read More

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http://dx.doi.org/10.14740/wjon1279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7239575PMC

CLN5 in heterozygosis may protect against the development of tumors in a VHL patient.

Orphanet J Rare Dis 2020 Jun 2;15(1):132. Epub 2020 Jun 2.

Centro de Investigaciones Biológicas Margarita Salas, Consejo Superior de Investigaciones Científicas (CSIC), Madrid, Spain.

Von Hippel-Lindau syndrome (VHL) is a rare disease of dominant inheritance that increases susceptibility to tumor development, with a complete penetrance at the age of 60. In this report, we present the unprecedented case of a VHL carrier who remains healthy at 72. Under the course of this study, it was discovered that this patient carries a mutation for a second rare disease, Neuronal Ceroid Lipofuscinosis (NCL or CNL). Read More

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http://dx.doi.org/10.1186/s13023-020-01410-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268215PMC

Stereotactic radiosurgery for central nervous system hemangioblastoma in von Hippel-Lindau disease: A systematic review and meta-analysis.

Clin Neurol Neurosurg 2020 May 15;195:105912. Epub 2020 May 15.

Department of Urology, Peking University First Hospital, Beijing, China; Institute of Urology, Peking University, Beijing, China; National Urological Cancer Center, Beijing, China. Electronic address:

Von Hippel-Lindau (VHL) disease is a dominantly inherited disorder marked by multiorgan tumors, such as central nervous system benign hemangioblastomas (CHB). Stereotactic radiosurgery (SRS) has also been used to treat CHB for a long time. The purpose of this meta-analysis is to provide a long-term outcome of SRS for VHL-associated CHB by reviewing published studies. Read More

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http://dx.doi.org/10.1016/j.clineuro.2020.105912DOI Listing

Hypoxia-inducible factor 2α drives hepatosteatosis through the fatty acid translocase CD36.

Liver Int 2020 May 20. Epub 2020 May 20.

Unidad de Investigación, Hospital Universitario Santa Cristina, Instituto de Investigación Sanitaria del Hospital Universitario de La Princesa, Madrid, Spain.

Background & Aims: Molecular mechanisms by which hypoxia might contribute to hepatosteatosis, the earliest stage in non-alcoholic fatty liver disease (NAFLD) pathogenesis, remain still to be elucidated. We aimed to assess the impact of hypoxia-inducible factor 2α (HIF2α) on the fatty acid translocase CD36 expression and function in vivo and in vitro.

Methods: CD36 expression and intracellular lipid content were determined in hypoxic hepatocytes, and in hypoxic CD36- or HIF2α -silenced human liver cells. Read More

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http://dx.doi.org/10.1111/liv.14519DOI Listing

Overexpression of EGFR and TGFα in von Hippel-Lindau-Related Central Nervous System Hemangioblastomas.

Front Oncol 2020 5;10:703. Epub 2020 May 5.

Department of Urology, Peking University First Hospital, Beijing, China.

Central nervous system (CNS) hemangioblastomas (HGBs) are the most frequent cause of mortality in patients with von Hippel-Lindau (VHL) disease. Characteristics of multiple and recurrent disease cause certain difficulties in the treatment of CNS HGBs. VHL-related HGB cases treated surgically at our hospital from September 2015 to February 2019 were analyzed. Read More

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http://dx.doi.org/10.3389/fonc.2020.00703DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7214834PMC

Bilateral pheochromocytoma: Clinical characteristics, treatment and longitudinal follow-up.

Clin Endocrinol (Oxf) 2020 May 14. Epub 2020 May 14.

Division of Endocrinology, Diabetes, and Nutrition, Mayo Clinic, Rochester, MN, USA.

Objective: Comprehensive data about patients with bilateral pheochromocytoma are limited. We aimed to describe the clinical presentation, genetic analysis, treatment and outcomes of patients with bilateral pheochromocytoma.

Design: A retrospective study at a tertiary care centre. Read More

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http://dx.doi.org/10.1111/cen.14222DOI Listing

Retinal capillary hemangioblastomatosis and renal tumor in Von Hippel-Lindau disease.

Am J Ophthalmol Case Rep 2020 Jun 23;18:100718. Epub 2020 Apr 23.

Roski Eye Institute, Department of Ophthalmology, Keck School of Medicine, University of Southern California, 1450 San Pablo St, Los Angeles, CA, USA.

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http://dx.doi.org/10.1016/j.ajoc.2020.100718DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7210392PMC

Spinal paraganglioma as unusual finding in von Hippel-Lindau disease.

J Clin Neurosci 2020 Jul 7;77:217-221. Epub 2020 May 7.

Department of Neurosurgery, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.

A 20-year-old patient with a history of von Hippel-Lindau disease reported on thoracic back pain radiating to the left shoulder for 10 weeks. Magnetic resonance imaging revealed a progressive contrast-enhancing tumor (14 × 21 × 28 mm) compressing the spinal cord and extending into the left neural foramen at T5/6. After embolization of supplying vessels, the tumor was completely resected via hemilaminectomy of T5. Read More

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http://dx.doi.org/10.1016/j.jocn.2020.05.025DOI Listing

Comprehensive analysis of mutations of renal cell carcinoma in an autosomal dominant polycystic kidney disease patient.

Medicine (Baltimore) 2020 May;99(19):e20071

Internal Medicine, Hallym University Medical Center, Chuncheon Sacred Heart Hospital, Chuncheon-si, Gangwon-do, Republic of Korea.

Renal cell carcinoma (RCC) is known to be more prevalent in autosomal dominant polycystic kidney disease (ADPKD) patients than in the general population. However, little is known about genetic alterations or changes in signaling pathways in RCC in patients with ADPKD.In the current report, whole-exome and transcriptome sequencing was performed for paired samples of tumor tissue, cyst tissue, and peripheral blood (triple set) from a patient diagnosed with ADPKD and RCC. Read More

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http://dx.doi.org/10.1097/MD.0000000000020071DOI Listing
May 2020
5.723 Impact Factor

Complementary role of F-FDG and Ga-DOTATATE PET/CT in the surveillance of patients with von Hippel-Lindau syndrome.

Ann Gastroenterol 2020 May-Jun;33(3):323. Epub 2020 Mar 14.

Positron Emission Tomography (PET) Department, Clinical Center (CC), National Institutes of Health (NIH), Bethesda, Maryland, USA (Corina Millo).

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http://dx.doi.org/10.20524/aog.2020.0465DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196616PMC

Role of VHL-JAK-STAT signaling pathway in central nervous system hemangioblastoma associated with von Hippel-Lindau disease.

J Neurooncol 2020 May 30;148(1):29-38. Epub 2020 Apr 30.

Department of Urology, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.

Introduction: Central nervous system hemangioblastoma is a benign tumor associated with or without von Hippel-Lindau (VHL) disease which is an autosomal dominant hereditary disease that results from a germline mutation in the VHL gene. A main axis of signaling pathways in central nervous system hemangioblastoma is VHL-HIF signaling pathway. Here, we propose an alternative VHL-JAK-STAT signaling pathway in hemangioblastoma and discuss the role. Read More

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http://dx.doi.org/10.1007/s11060-020-03506-8DOI Listing

Hereditary Syndromes in Neuroendocrine Tumors.

Authors:
Mark A Lewis

Curr Treat Options Oncol 2020 Apr 30;21(6):50. Epub 2020 Apr 30.

Gastrointestinal Oncology, Intermountain Healthcare, 5171 S. Cottonwood Street, Bldg. 1. Ste. 610, Murray, UT, 84107, USA.

Opinion Statement: Oncologists should be able to discern the salient clinical features of the most common germline mutations that give rise to neuroendocrine tumors. Astute recognition of an index patient affected by a hereditary syndrome can lead to a "tip-of-the-iceberg" phenomenon whereby their entire kindred can then be proactively monitored and managed potentially with substantial reduction of morbidity and mortality. Through careful history-taking, as well as thoughtful assimilation of findings from the physical exam, biochemical laboratories, scans, and pathology reports, the clinician can spot phenotypic clues that distinguish these familial patterns from sporadic cases of tumorigenesis. Read More

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http://dx.doi.org/10.1007/s11864-020-00749-5DOI Listing

Von Hippel-Lindau Disease Presenting as Obstructive Jaundice.

ACG Case Rep J 2020 Feb 19;7(2):e00324. Epub 2020 Feb 19.

Department of Gastroenterology, Seth GS Medical College and KEM Hospital, Mumbai, Maharashtra, India.

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http://dx.doi.org/10.14309/crj.0000000000000324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7145179PMC
February 2020

A Painful Finger: An Unusual Presentation of Von Hippel-Lindau-Associated Advanced Renal Cell Carcinoma.

Case Rep Oncol 2020 Jan-Apr;13(1):245-248. Epub 2020 Mar 24.

Department of Medical Oncology, Goulburn Valley Health, Shepparton, Victoria, Australia.

Bone is reported to be one of the most common sites of metastasis. Acrometastasis is an extremely rare situation and accounts for approximately 0.1% of all metastatic lesions to the skeleton. Read More

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http://dx.doi.org/10.1159/000506444DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7154253PMC

Novel genetic characterisation and phenotype correlation in von Hippel-Lindau (VHL) disease based on the Elongin C binding site: a large retrospective study.

J Med Genet 2020 Apr 17. Epub 2020 Apr 17.

Department of Urology, Peking University First Hospital, Beijing, Beijing, China

Background: Von Hippel-Lindau (VHL) disease is an autosomal dominant genetic tumour syndrome resulting from mutations in the gene lineage, and its prognosis is generally poor. This study aimed to provide a more valuable genotype-phenotype correlation based on the Elongin C binding site in VHL disease.

Methods: This study included 553 patients (194 families) who were diagnosed with VHL disease in our centre from September 2010 to February 2019. Read More

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http://dx.doi.org/10.1136/jmedgenet-2019-106336DOI Listing
April 2020
6.335 Impact Factor

Ten-Year Experience with Percutaneous Cryoablation of Renal Tumors: Tumor Size Predicts Disease Progression.

J Endourol 2020 Jun 22. Epub 2020 Jun 22.

Division of Urologic Surgery, Department of Surgery, Washington University School of Medicine, St. Louis, Missouri, USA.

Percutaneous cryoablation (PCA) has emerged as an alternative to extirpative management of small renal masses (SRMs) in select patients, with a reduced risk of perioperative complications. Although disease recurrence is thought to occur in the early postoperative period, limited data on long-term oncologic outcomes have been published. We reviewed our 10-year experience with PCA for SRMs and assessed predictors of disease progression. Read More

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http://dx.doi.org/10.1089/end.2019.0882DOI Listing

Diagnostic challenges of posterior fossa hemangioblastomas: Refining current radiological classification scheme.

Sci Rep 2020 Apr 14;10(1):6267. Epub 2020 Apr 14.

Department of Neurosurgery, Brain Tumor Center, Yonsei University College of Medicine, Seoul, Republic of Korea.

Hemangioblastomas (HBMs) are known to exhibit very typical radiological features and thus classified by well-established radiological classification scheme. We reviewed our series of posterior fossa HBMs in order not only to evaluate the relevance of current classification scheme, but also to possibly refine it. Also, we added descriptions on several cases with unusual radiological magnetic resonance imaging (MRI) findings in which differential diagnosis was challenging. Read More

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http://dx.doi.org/10.1038/s41598-020-63207-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7156704PMC

Genetic Syndromes Affecting Both Children and Adults: A Practical Guide to Imaging-based Diagnosis, Management, and Screening Recommendations for General Radiologists.

Radiol Clin North Am 2020 May;58(3):619-638

Division of Thoracic Imaging, Department of Radiology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA. Electronic address:

Genetic syndromes are an infrequently encountered but challenging group of conditions for both pediatric and adult radiologists given the multitude of possible findings and important complications associated with these syndromes. This article reviews characteristic syndromic imaging features, as well as discussing important complications and screening recommendations for a selected group of clinically relevant genetic syndromes affecting both pediatric and adult populations. Read More

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http://dx.doi.org/10.1016/j.rcl.2020.01.003DOI Listing

Ciliary Genes in Renal Cystic Diseases.

Cells 2020 Apr 8;9(4). Epub 2020 Apr 8.

Department of Biochemistry and Molecular Biology, Centre of Postgraduate Medical Education, 01-813 Warsaw, Poland.

Cilia are microtubule-based organelles, protruding from the apical cell surface and anchoring to the cytoskeleton. Primary (nonmotile) cilia of the kidney act as mechanosensors of nephron cells, responding to fluid movements by triggering signal transduction. The impaired functioning of primary cilia leads to formation of cysts which in turn contribute to development of diverse renal diseases, including kidney ciliopathies and renal cancer. Read More

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http://dx.doi.org/10.3390/cells9040907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7226761PMC

ASK1-Mediated Phosphorylation Blocks HDAC6 Ubiquitination and Degradation to Drive the Disassembly of Photoreceptor Connecting Cilia.

Dev Cell 2020 May 9;53(3):287-299.e5. Epub 2020 Apr 9.

Institute of Biomedical Sciences, Shandong Provincial Key Laboratory of Animal Resistance Biology, Collaborative Innovation Center of Cell Biology in Universities of Shandong, College of Life Sciences, Shandong Normal University, Jinan 250014, China; State Key Laboratory of Medicinal Chemical Biology, College of Life Sciences, Nankai University, Tianjin 300071, China. Electronic address:

Retinopathy of prematurity (ROP) is a leading cause of childhood blindness. However, the pathogenesis and molecular mechanisms underlying ROP remain elusive. Herein, using the oxygen-induced retinopathy (OIR) mouse model of ROP, we demonstrate that disassembly of photoreceptor connecting cilia is an early event in response to oxygen changes. Read More

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http://dx.doi.org/10.1016/j.devcel.2020.03.010DOI Listing
May 2020
9.708 Impact Factor

Clear Cell Renal Cell Carcinoma Growth Correlates with Baseline Diffusion-weighted MRI in Von Hippel-Lindau Disease.

Radiology 2020 Jun 7;295(3):583-590. Epub 2020 Apr 7.

From the Radiology and Imaging Sciences, NIH Clinical Center (F.F., M.N., A.K.P., A.S., A.T., E.C.J., A.A.M.), and Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute (M.W.B., W.M.L.), National Institutes of Health, 10 Center Dr, Bethesda, MD 20814.

Background Identification of markers to aid in understanding the growth kinetics of Von Hippel-Lindau (VHL)-associated clear cell renal cell carcinoma (ccRCC) has the potential to allow individualization of patient care, thereby helping prevent unnecessary screening and optimizing intervention. Purpose To determine whether the degree of restricted diffusion at baseline MRI holds predictive potential for the growth rate of VHL-associated ccRCC. Materials and Methods Patients with VHL disease who underwent surgical resection of tumors between November 2014 and October 2017 were analyzed retrospectively in this HIPAA-compliant study. Read More

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http://dx.doi.org/10.1148/radiol.2020191016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7263323PMC

Evaluation of an amplicon-based custom gene panel for the diagnosis of hereditary tumors.

Neoplasma 2020 Mar 30. Epub 2020 Mar 30.

Department of Molecular Laboratory Medicine, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.

Genetic testing based on next-generation sequencing (NGS) analysis has recently been used to diagnose hereditary diseases. In this study, we explored the usefulness of our custom amplicon panel that targeted 23 genes related to hereditary tumors given in the American College of Medical Genetics and Genomics recommendations. We applied our custom NGS panel to samples from 12 patients previously diagnosed by Sanger sequencing as having the diseases or diagnosed clinically by meeting the diagnostic criteria in this study. Read More

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http://dx.doi.org/10.4149/neo_2020_190918N925DOI Listing

Clinical Results of Various Treatments for Retinal Capillary Hemangioma.

Korean J Ophthalmol 2020 Apr;34(2):133-142

Department of Ophthalmology, Chungnam National University College of Medicine, Daejeon, Korea.

Purpose: We report the clinical outcomes of retinal capillary hemangioma (RCH) after the application of various treatments.

Methods: We performed a retrospective chart analysis of eight eyes treated for RCH between August 2009 and January 2018. During the follow-up period, the status and progression of the RCHs were checked by fundus photography, fluorescein angiography, and optical coherence tomography, and additional treatments were applied when necessary. Read More

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http://dx.doi.org/10.3341/kjo.2019.0075DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7105784PMC

Clear cell chondrosarcoma of the talus in Von Hippel-Lindau disease: a rare tumor in an unusual location and uncommon co-presentation.

Int J Clin Exp Pathol 2020 1;13(2):266-271. Epub 2020 Feb 1.

Department of Radiology, Kyung Hee University Hospital at Gangdong, Kyung Hee University College of Medicine Seoul, Republic of Korea.

Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome. Clear cell chondrosarcoma (CCCS) is a rare variant of chondrosarcoma. Here, we report a case of CCCS in the talus occurring in a patient with VHL disease. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7061794PMC
February 2020

Clinical predictors of a positive test result in patients undergoing genetic evaluation for a hereditary kidney cancer syndrome.

Can Urol Assoc J 2020 Mar 23. Epub 2020 Mar 23.

Department of Urology, Dalhousie University, Halifax, NS, Canada.

Introduction: Guidelines are available to assist providers in identifying patients with renal cell carcinoma (RCC) that may benefit from genetic counselling, however, the evidence for these recommendations lacks support from the literature and controversy remains as to who should be referred. We aimed to delineate risk factors associated with a positive genetic test in a real-life cohort of patients with RCC referred to a regional medical genetics unit for evaluation of a hereditary kidney cancer syndrome.

Methods: Patients with a diagnosis of RCC referred to Maritime Medical Genetics Service (Nova Scotia, Canada) from 2006-2017 were reviewed using retrospective data. Read More

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http://dx.doi.org/10.5489/cuaj.6264DOI Listing

[Hereditary predisposition to tumors of the central and peripheral nervous systems].

Ann Pathol 2020 Apr 17;40(2):168-179. Epub 2020 Mar 17.

Département de pathologie cellulaire et tissulaire, CHU d'Angers, 4, rue Larrey, 49100 Angers, France; CRCINA, université de Nantes, université d'Angers, 49100 Angers, France. Electronic address:

Some tumors of the central and peripheral nervous system may be associated with a cancer predisposition syndrome, either hereditary or occurring de novo. Such a syndrome is usually associated with multiple tumors occurring early in life. Patients with neurofibromatosis type 1 present with multiple neurofibromas, especially of the plexiform type (which may transform into malignant peripheral nerve sheath tumor), and pilocytic astrocytomas of the optic pathways. Read More

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http://dx.doi.org/10.1016/j.annpat.2020.02.019DOI Listing

Establishment and Characterization of Cell Lines from Primary Culture of Hemangioblastoma Stromal Cells.

Neurol India 2020 Mar-Apr;68(2):383-388

Department of Neurosurgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China.

Context: A well-established cell line of hemangioblastomas (HBs) is still lacking.

Aim: This study aims to explore a stable way to establish primary cell lines of HB stromal cells and investigate the morphological and molecular features of these cells.

Patients And Methods: Specimens of HBs from 13 patients were collected for establishment of primary cell lines of stromal cells. Read More

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http://dx.doi.org/10.4103/0028-3886.280643DOI Listing