Novel three missense mutations observed in Von Hippel-Lindau gene in a patient reported with renal cell carcinoma

Kumar, Pasupuleti Santhosh; Venkatesh, Katari; Srikanth, Lokanathan; Gurunadha, Potukuchi Venkata; Sarma, Krishna; Reddy, Akkamgari Ramprasad; Subramanian, Srinivasan; Phaneendra, Bobbidi Venkata
September 2013
Indian Journal of Human Genetics;Jul-Sep2013, Vol. 19 Issue 3, p373
Academic Journal
Von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary cancer syndrome that predisposes to the development of a variety of benign and malignant tumors, especially cerebellar hemangioblastomas, retinal angiomas and clear-cell renal cell carcinomas (RCC). We have identified of VHL gene using immunohistochemistry in a patient who was diagnosed for RCC. In order to understand the involvement of mutation in the VHL gene exon 1 was amplified and sequenced (accession number: JX 401534). The sequence analysis revealed the presence of novel missense mutations c.194 C>T, c.239 G>A, c.278 G>A, c.319 C>G, c. 337 C > G leading to the following variations p.Ala 65 Val, p.Gly 80 Asp, p.Gly 93 Glu, p.Gln 107 Glu, p.Gln 113 Glu in the protein.


Related Articles

  • Renal tumor size is an independent prognostic factor for overall survival in von Hippel-Lindau disease. Kwon, Taekmin; Jeong, In; Pak, Sahyun; You, Dalsan; Song, Cheryn; Hong, Jun; Ahn, Hanjong; Kim, Choung-Soo // Journal of Cancer Research & Clinical Oncology;Jul2014, Vol. 140 Issue 7, p1171 

    Objectives: To evaluate the effect of renal cell carcinoma (RCC) on survival in von Hippel-Lindau (VHL) disease and to assess the relationship between tumor size and survival. Materials and methods: In this retrospective cohort study, the medical records of 72 patients who presented with VHL...

  • Spectrum of Preneoplastic and Neoplastic Cystic Lesions of the Kidney. Chen, Ying-Bei; Tickoo, Satish K. // Archives of Pathology & Laboratory Medicine;Apr2012, Vol. 136 Issue 4, p400 

    Context.--Cystic lesions of the kidney may be accompanied by a range of neoplasms with distinct prognoses and future risks of developing additional tumors. In addition, some renal tumors, with or without accompanying renal cysts, may show a prominent cystic component. In the adult population,...

  • Genetic imprinting suggested by maternal DNA methylation in CNS hemangioblastoma with clinical phenotypes of VHL disease. Ma, Dexuan; Wang, Ying; Zhou, Liangfu // Journal of Neuro-Oncology;Sep2015, Vol. 124 Issue 3, p525 

    No abstract available.

  • Extraneural hemangioblastoma of the kidney: the challenge for clinicopathological diagnosis. Yong Wu; Tao Wang; Pei-Pei Zhang; Xiaoqun Yang; Jian Wang; Chao-Fu Wang // Journal of Clinical Pathology;Dec2015, Vol. 68 Issue 12, p1020 

    Background Hemangioblastoma is a benign cerebellar tumour which may occur as a sporadic entity or in association with von Hippel-Lindau (VHL) disease in approximately 25% of cases. Renal hemangioblastoma (RH) is an extremely rare and newly recognised tumour. Here, we describe five cases of RH,...

  • miR-210 is a target of hypoxia-inducible factors 1 and 2 in renal cancer, regulates ISCU and correlates with good prognosis. McCormick, R I; Blick, C; Ragoussis, J; Schoedel, J; Mole, D R; Young, A C; Selby, P J; Banks, R E; Harris, A L // British Journal of Cancer;3/19/2013, Vol. 108 Issue 5, p1133 

    Background:Clear cell renal cancer frequently harbours von Hippel-Lindau (VHL) gene mutations, leading to stabilisation of the hypoxia-inducible factors (HIFs) and expression of their target genes. We investigated HIF-1 and HIF-2 in the regulation of microRNA-210 (miR-210), and its clinical...

  • Hippel's disease, von Hippel-Lindau disease.  // Taber's Cyclopedic Medical Dictionary (2009);2009, Issue 21, p1080 

    A definition of the medical term "Hippel's disease or von Hippel-Lindau disease," which refers to the angiomatosis of the retina and other body areas, is presented.

  • Lindau's disease.  // Taber's Cyclopedic Medical Dictionary (2009);2009, Issue 21, p1344 

    A definition of the term "Lindau's disease," which refers to Lindau-von Hippel disease, is presented.

  • von Hippel-Lindau syndrome.  // Taber's Cyclopedic Medical Dictionary (2009);2009, Issue 21, p2480 

    An encyclopedia entry for "von Hippel-Lindau syndrome," which refers to Hippel's disease, is presented.

  • Lindau-von Hippel disease.  // Taber's Cyclopedic Medical Dictionary (2009);2009, Issue 21, p1344 

    A definition of the term "Lindau-von Hippel disease," which refers to angiomata of the retina and cysts and angiomata of the brain and certain visceral organs, is presented.


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics