Literature DB >> 18434768

Von Hippel-Lindau (VHL) disease: an update on the clinico-pathologic and genetic aspects.

Bahig M Shehata1, Christina A Stockwell, Amilcar A Castellano-Sanchez, Shannon Setzer, Christine L Schmotzer, Haynes Robinson.   

Abstract

von Hippel-Lindau (VHL) disease is an inherited multisystem familial cancer syndrome caused by mutations of the VHL gene on chromosome 3p25. A wide variety of neoplastic processes are known to be associated with VHL disease. The consequences of the VHL mutations and the pathway for tumor development continue to be elucidated. This paper will detail the variety of tumors associated with VHL disease and discuss the genetic mechanisms that lead to the predisposition for neoplasia.

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Year:  2008        PMID： 18434768     DOI： 10.1097/PAP.0b013e31816f852e

Source DB:  PubMed          Journal:  Adv Anat Pathol        ISSN： 1072-4109            Impact factor:   3.875


  13 in total

1.  Von Hippel - Lindau disease.

Authors:  Sna Muhamad Nor; J Haron
Journal:  Malays Fam Physician       Date:  2017-04-30

2.  Pediatric endocrine screening for von Hippel-Lindau disease: benefits and the challenge of compliance.

Authors:  R Prasad; L B Johnston; M O Savage; L Martin; L A Perry; H L Storr
Journal:  J Endocrinol Invest       Date:  2010-06-28       Impact factor: 4.256

3.  Primary vascular tumors of bone: a spectrum of entities?

Authors:  Sofie L J Verbeke; Judith V M G Bovée
Journal:  Int J Clin Exp Pathol       Date:  2011-07-25

4.  Whole exome sequencing identified genetic variations in Chinese hemangioblastoma patients.

Authors:  Dexuan Ma; Jingyun Yang; Ying Wang; Xiang Huang; Guhong Du; Liangfu Zhou
Journal:  Am J Med Genet A       Date:  2017-07-25       Impact factor: 2.802

5.  Neuroprotective effects respond to cerebral ischemia without susceptibility to HB-tumorigenesis in VHL heterozygous knockout mice.

Authors:  Ying Wang; Jingyun Yang; Guhong Du; Dexuan Ma; Liangfu Zhou
Journal:  Mol Carcinog       Date:  2017-06-30       Impact factor: 4.784

6.  VHL frameshift mutation as target of nonsense-mediated mRNA decay in Drosophila melanogaster and human HEK293 cell line.

Authors:  Lucia Micale; Lucia Anna Muscarella; Marco Marzulli; Bartolomeo Augello; Patrizia Tritto; Leonardo D'Agruma; Leopoldo Zelante; Gioacchino Palumbo; Giuseppe Merla
Journal:  J Biomed Biotechnol       Date:  2010-01-21

7.  A vitronectin M381T polymorphism increases risk of hemangioblastoma in patients with VHL gene defect.

Authors:  Jing-Shan Huang; Chih-Ming Lin; Yu-Che Cheng; Kun-Long Hung; Chih-Cheng Chien; Shao-Kuan Chen; Chih-Ju Chang; Chan-Wei Chen; Chi-Jung Huang
Journal:  J Mol Med (Berl)       Date:  2009-03-14       Impact factor: 4.599

8.  Surgical resection of endolymphatic sac tumors in von Hippel-Lindau disease: findings, results, and indications.

Authors:  H Jeffrey Kim; Marygrace Hagan; John A Butman; Martin Baggenstos; Carmen Brewer; Christopher Zalewski; W Marston Linehan; Russell R Lonser
Journal:  Laryngoscope       Date:  2012-10-15       Impact factor: 3.325

9.  Altered PTEN, ATRX, CHGA, CHGB, and TP53 expression are associated with aggressive VHL-associated pancreatic neuroendocrine tumors.

Authors:  Allison B Weisbrod; Lisa Zhang; Meenu Jain; Stephanie Barak; Martha M Quezado; Electron Kebebew
Journal:  Horm Cancer       Date:  2013-01-30       Impact factor: 3.869

10.  A case of von Hippel-Lindau disease with juxtapapillary retinal capillary hemangioma and nutcracker phenomenon.

Authors:  Güliz Fatma Yavaş; Nazan Okur; Tuncay Küsbeci; Esma Norman; Ümit Inan
Journal:  Int Ophthalmol       Date:  2012-11-01       Impact factor: 2.031
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