Abstract library

933 results for "von Hipple-Lindau disease".
#416 A Rare Case of Cushing Syndrome Caused by an Ectopic ACTH-Secreting Pancreatic Neuroendocrine Tumor in a Patient with Von Hipple-Lindau Disease
Introduction: Von Hipple-Lindau (VHL) disease is a rare autosomal dominant disorder, that causes the susceptibility to various tumors, both benign and malignant. The most frequent tumors are central nervous system haemangioblastomas, especially cerebellum and retinal haemangioblastomas, renal cell carcinoma /renal cysts and pheocromocytoma.
Conference: 9th Annual ENETS Conference (2012)
Category: Clinical
Presenting Author: Andrea Lania
#626 Preliminary Results of a Nationwide Survey of Pancreatic Neuroendocrine Tumors in von Hippel–Lindau Disease in Japan
Introduction: von Hippel–Lindau disease (VHL) is an intractable disease characterized by various tumors including pancreatic neuroendocrine tumors (PNET).
Conference: 10th Annual ENETS Conference (2013)
Category: Epidemiology/Natural history/Prognosis - Registries, nationwide and regional surveys
Presenting Author: Dr. Hisato Igarashi
#806 Long-Term Prognosis of Pancreatic Neuroendocrine Tumors in Von Hippel-Lindau Disease
Introduction: Management of pancreatic neuroendocrine tumours (PNET) associated with von Hippel-Lindau (VHL) disease is challenging because of their malignant potential and poorly predictable prognosis.
Conference: 11th Annual ENETS Conference (2014)
Category: Epidemiology/Natural history/Prognosis - Prognosis
Presenting Author: Louis De Mestier
#1924 Multimodal Treatment of a Metastatic Pancreatic NeuroEndocrine Tumor in Von Hippel Lindau Disease
Introduction: Von Hippel-Lindau disease (VHL) is an inherited neoplastic syndrome: pancreatic lesions in 35-77% of cases, usually serous cystic adenoma (SCA), but 5-17% are non-functioning (NF) NeuroEndocrine tumors (NETs).
Conference: 14th Annual ENETS conference (2017)
Category: Medical treatment - Targeted therapies
Presenting Author: Dr Anna Caterina Milanetto
#1854 VHL Genotype Is Associated with Pancreatic Neuroendocrine Tumors (PNETs) Phenotype in Patients with Von Hippel-Lindau Disease (VHLD)
Introduction: 8-20% of patients with VHLD develop PNETs. However, there are no markers for PNETs progression in VHLD patients. The type of mutation in VHL gene is associated with clinical phenotype of VHLD.
Conference: 14th Annual ENETS conference (2017)
Category: Epidemiology/Natural history/Prognosis - Prognosis
Presenting Author: MD Amit Tirosh
Keywords: VHL, mutation, prognosis
#1928 Pancreatic Involvement in VHL Disease: The Turin Experience
Introduction: Von Hippel-Lindau disease (VHL) is a rare heritable genetic syndrome. Its typical manifestations concern CNS but it may affect other organs such as the pancreas.
Conference: 14th Annual ENETS conference (2017)
Category: Epidemiology/Natural history/Prognosis - Descriptive epidemiology
Presenting Author: Pablo Cortegoso Valdivia
Keywords: VHL
#22 A Case Illustrative of Phenotypic Heterogeneity and Challenges in the Management of Paraganglioma
Introduction: Paragangliomas (PGLs) are extra-adrenal, usually benign, highly vascularized tumors that originate from neural-crest-derived chromaffin cells. These tumors are subdivided as either sympathetic or parasympathetic, depending on their location and catecholamine production. Sympathetic PGLs are situated along the abdominal sympathetic trunk and usually produce catecholamines, whereas parasympathetic PGLs are located in the head and neck, and these usually do not produce catecholamines. PGLs may present as sporadic or inherited tumor syndrome, including MEN 2, with RET germline mutations, von Hippel-Lindau (VHL) disease due to germline mutations in VHL gene, and pheochromocytoma-PGL syndrome. The latter is frequently a hereditary condition and is caused by germline mutations in the SDHB, SDHC, or SDHC genes. Patients with familial PGLs may present at a younger age, often as multifocal tumors, with an increased risk of recurrence and a higher frequency of malignancy in those with SDHB mutations. SDH mutations induce angiogenesis and tumorogenesis through the inhibition of hypoxia-inducible factors (HIF)-propyl hyroxylase. A younger age at onset, malignancy, and a positive family history are clinical parameters of high specificity, but low sensitivity for diagnosis. Genetic analysis for mutations in SDH genes for the patient and family members, and surveillance for the affected patient and family members, are necessary where there are no clear clinical or family indicators for the syndrome. We present a case of a large abdominal malignant PGL in a 20-year-old pt. that went on without clinical detection for at least three years.
Conference: 7th Annual ENETS Conference (2010)
Category: Clinical
Presenting Author: Dr Mohammed Ahmed
#40 Clinical and prognostic implications of the genetic diagnosis of hereditary NET syndromes in asymptomatic patients
Introduction: Neuroendocrine tumors (NETs) are rare neoplasms, heterogeneous, and with variable biological behavior. NETs can be sporadic or they can arise in complex endocrine hereditary syndromes such as Multiple Endocrine Neoplasias (MEN), Familial Paragangliomatosis (FPGL), Neurofibromatosis type 1 (NF1), von Hippel-Lindau Disease (VHL), Tuberous Sclerosis (TSC) and Carney Complex (CC). By performing genetic screening, patients with hereditary NETs can be identified before the development of tumors.
Conference: 7th Annual ENETS Conference (2010)
Category: Clinical
Presenting Author: Antongiulio Faggiano
#1550 Very Early Response to Sunitinib in VHL Patient with Pancreatic Neuroendocrine Tumor
Introduction: Pancreatic neuroendocrine tumors (pNET) arise in 8-17% of Von Hippel Lindau (VHL) patients and surgery plays a key role for resectable lesions. Alternative medical therapy, such as target therapy (TT), can be used when surgery is unfeasible
Conference: 13th Annual ENETS conference (2016)
Category: Clinical cases/reports
Presenting Author: MD, PhD Manuela Albertelli
Keywords: VHL therapy
#969 Identification of Hypoxia Induced Epigenetic Changes in the Development of Pancreatic Neuroendocrine Tumors
Introduction: In VHL syndrome, pancreatic NETs develop through bi-allelic inactivation of VHL with subsequent HIF pathway activation. This also occurs in sporadic pancreatic NETs.
Conference: 11th Annual ENETS Conference (2014)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Dr Harpreet K Dibra
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