Expression of Von Hippel - Lindau (VHL) gene mutation in diagnosed cases of renal cell carcinoma

Pakistan Journal of Medical Sciences

Volumn 30, Issue 4, 2014, Pages

  Shahzad, Humera ^a   Kehar, Shahnaz Imdad ^a   Ali, Shahzad ^a   Tariq, Naila ^a  

^a JINNAH POSTGRADUATE MEDICAL CENTRE   (Pakistan)

Author keywords

Clear cell papillary renal cell carcinoma (CCPRC); Papillary rcc (PRCC); Renal cell carcinoma (RCC) clear cell renal cell carcinoma (CCRCC); Von Hippel Lindau (VHL) gene

Indexed keywords

PARAFFIN; VON HIPPEL LINDAU PROTEIN;

ARTICLE; BASE PAIRING; CELL TYPE; CHROMOPHOBE CELL; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; EXON; GENE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN TISSUE; HYBRID CELL; KIDNEY CARCINOMA; NEPHRECTOMY; PAPILLARY RENAL CELL CARCINOMA; POLYMERASE CHAIN REACTION; VHL GENE;

EID: 84902335907     PISSN: 1682024X     EISSN: None     Source Type: Journal    
DOI: 10.12669/pjms.304.4733     Document Type: Article

References (20)

1. Kim WY, Kaelin WG. Role of VHL gene mutation in human cancer. J Clin Oncol. 2004;22(24):4991-5004.
2. Alpeers CE. The kidney In: Robbins and Cotran. Pathologic Basis of Disease Kumar V, Abbas AK, Fauston, Asteje Eds, Philadelphia, Elsevier. 2010:905-981.
3. Kiuru M, Kujala M, Aittomaki K. Inherited forms of renal cell carcinoma. Scan J Surg. 2004;93:103-111.
4. Maher ER Orphanet article on Von Hipplr Lindau (2009) http://www.rareconnect.org/en/community/von-Hippel-lindau/article/orphaned-article-on-vo.
5. Arjumand W, Sultana S. Role of VHL gene mutation in human renal cell carcinoma. Tumor Biol. 2012;33:9-16.
6. Agha F, Anwar K and Akhtern N. Impact of weather on presentation of kidney tumor a thirteen years retrospective studies. J Pak Med Assoc 2002; 52(10):447-450.
7. Latif F, Mubarak M, Qazi IJ. Histopayhological characteristics of adult renal tumors; preliminary report. J Pak Med Assoc. 2011;61(3):224-228.
8. Moore LE, Nickerson ML, Brennan P, Toro JR, Jaeger E, Rinsky J, et al. Von Hippel-Lindau (VHL) inactivation in Sporadic clear cell Renal cancer: Association with germline VHL polymorphisms and etiologic risk factors. Plos Genet. 2011;1-24.
9. Brauch H, Weirich G, Brieger J, Glavac D, Rodi H, Elchinger M, et al. VHL alterations in human clear cell renal cell carcinoma: Association with advanced tumor stage and a novel hot spot mutation. Cancer Res. 2000;60:1942.
10. Shuin T, Kondo K, Torigoe S, Kishida T, Kubota Y, Hosaka M, et al. Frequent somatic mutations and loss of heterozygosity of the von Hippel -Lindau tumor suppressor gene in primary human renal cell carcinomas. Cancer Res. 1994;54(11):2852-2855.
11. Qing XH, Ran HY, Ming LD et al Mutation of von Hippel-Lindau tumor suppressor gene in sporadic clear cell carcinoma and its significance. China Oncology. 2007;17:453-456.
12. Feldman DE, Thulasiraman V, Ferreyra RG, Frydman J. Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperon TRIC. Mol Cell. 1999;4(6):1051-1061.
13. Kaelin WG, Maher ER. The VHL tumor suppressor gene paradigm. Trends Genet. 1998;14(10):423-426.
14. Kondo K, Kaelin WG Jr. The von Hippel-Lindau tumor suppressor gene exp cell 2001.
15. Gomey I, Silva AW Jr. Molecular pathogenesis of renal cell carcinoma: A review in the In: Emerging research and treatments in renal cell carcinoma, edited by Robert J Amato. ISBN 978-953-0022-5, In Tech February 2, 2012.
16. Pawlowski R, Mühl SM, Sulser T, Krek W, Moch H, Schraml P. Loss of PBRM1 expression is associated with renal cell carcinoma progression. Int J Cancer. 2013;132(2):E11-E17.
17. Rohan SM, Xiao Y, Liang Y, Dudas ME, Al-Ahmadie HA, Fine SW, Gopalan A, Reuter VE, Rosenblum MK, Russo P and Tickoo SK. Clear cell papillary renal cell carcinoma: Molecular and immunohistochemical analysis with emphasis on the von HippelLindau gene and hypoxia-inducible factor pathway-related proteins. Odern Pathol. 2011;24(9):1207-1220.
18. Gatalica Z, Lilleberg SL, Vranic S, Eyzaguirre E, Orihuela E, Velagaleti G. Novel intronicgermline FLCN gene mutation in a patient with multiple ipsilateral renal neoplasms. Hum Pathol. 2009;40(12):1813-1819.
19. Adley BP, Smith ND, Nayar R, I Ximing, Yang XJ. Birt-Hogg-Dube Syndrome. Clinicopathologic findings and genetic alterations. Arch Pathol Lab Med. 2006;130:1865-1870.
20. Hemminki K, Jiang Y, Ma X, Egevad L, Lindblad P. Molecular epidemiology of VHL gene mutations in renal cell carcinoma patients: relation to dietary and other factors. Carcinogenesis. 2002;23(5):809-815.