Genetic and Chromosomal Aberrations and Their Clinical Significance in Renal Neoplasms

Overview

Journal Biomed Res Int

Publisher Wiley

Specialties Biomedical Engineering
Biotechnology
General Medicine

Date 2015 Oct 9

PMID 26448938

Citations 18

Authors

Ning Yi Yap

Retnagowri Rajandram

Keng Lim Ng

Jayalakshmi Pailoor

Ahmad Fadzli

Glenda Carolyn Gobe

Affiliations

Soon will be listed here.

Abstract

The most common form of malignant renal neoplasms is renal cell carcinoma (RCC), which is classified into several different subtypes based on the histomorphological features. However, overlaps in these characteristics may present difficulties in the accurate diagnosis of these subtypes, which have different clinical outcomes. Genomic and molecular studies have revealed unique genetic aberrations in each subtype. Knowledge of these genetic changes in hereditary and sporadic renal neoplasms has given an insight into the various proteins and signalling pathways involved in tumour formation and progression. In this review, the genetic aberrations characteristic to each renal neoplasm subtype are evaluated along with the associated protein products and affected pathways. The potential applications of these genetic aberrations and proteins as diagnostic tools, prognostic markers, or therapeutic targets are also assessed.

Citing Articles

Radiogenomics Pilot Study: Association Between Radiomics and Single Nucleotide Polymorphism-Based Microarray Copy Number Variation in Diagnosing Renal Oncocytoma and Chromophobe Renal Cell Carcinoma.

Alhussaini A, Veluchamy A, Jawli A, Kernohan N, Tang B, Palmer C Int J Mol Sci. 2024; 25(23).

PMID: 39684226 PMC: 11641663. DOI: 10.3390/ijms252312512.

Expression of HIF‑α and their association with clinicopathological parameters in clinical renal cell carcinoma.

Sitaram R, Ljungberg B Ups J Med Sci. 2024; 129.

PMID: 38571885 PMC: 10989218. DOI: 10.48101/ujms.v129.9407.

A Neurosurgical Perspective on Brain Metastases from Renal Cell Carcinoma: Multi-Institutional, Retrospective Analysis.

Semenescu L, Tataranu L, Dricu A, Ciubotaru G, Radoi M, Rodriguez S Biomedicines. 2023; 11(9).

PMID: 37760926 PMC: 10526360. DOI: 10.3390/biomedicines11092485.

Histologic re‑evaluation of a population‑based series of renal cell carcinomas from The Netherlands Cohort Study according to the 2022 ISUP/WHO classification.

Odeh S, Samarska I, Matoso A, Van De Pol J, Baldewijns M, Hulsbergen-van de Kaa C Oncol Lett. 2023; 25(5):174.

PMID: 37033104 PMC: 10080194. DOI: 10.3892/ol.2023.13760.

Analysis of prognostic and therapeutic values of drug resistance-related genes in the lung cancer microenvironment.

Zhu L, Chen P, Wang H, Zhao L, Guo H, Jiang M Transl Cancer Res. 2022; 11(2):339-357.

PMID: 35281414 PMC: 8904958. DOI: 10.21037/tcr-21-1841.

References

Schullerus D, von Knobloch R, Chudek J, Herbers J, Kovacs G . Microsatellite analysis reveals deletion of a large region at chromosome 8p in conventional renal cell carcinoma. Int J Cancer. 1999; 80(1):22-4. DOI: 10.1002/(sici)1097-0215(19990105)80:1<22::aid-ijc5>3.0.co;2-s. View

Sevignani C, Calin G, Cesari R, Sarti M, Ishii H, Yendamuri S . Restoration of fragile histidine triad (FHIT) expression induces apoptosis and suppresses tumorigenicity in breast cancer cell lines. Cancer Res. 2003; 63(6):1183-7. View

Becker F, Junker K, Parr M, Hartmann A, Fussel S, Toma M . Collecting duct carcinomas represent a unique tumor entity based on genetic alterations. PLoS One. 2013; 8(10):e78137. PMC: 3805592. DOI: 10.1371/journal.pone.0078137. View

Schraml P, Struckmann K, Hatz F, Sonnet S, Kully C, Gasser T . VHL mutations and their correlation with tumour cell proliferation, microvessel density, and patient prognosis in clear cell renal cell carcinoma. J Pathol. 2002; 196(2):186-93. DOI: 10.1002/path.1034. View

Kapur P, Christie A, Raman J, Then M, Nuhn P, Buchner A . BAP1 immunohistochemistry predicts outcomes in a multi-institutional cohort with clear cell renal cell carcinoma. J Urol. 2013; 191(3):603-10. DOI: 10.1016/j.juro.2013.09.041. View

Davis C, Ricketts C, Wang M, Yang L, Cherniack A, Shen H . The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell. 2014; 26(3):319-330. PMC: 4160352. DOI: 10.1016/j.ccr.2014.07.014. View

Przybycin C, Cronin A, Darvishian F, Gopalan A, Al-Ahmadie H, Fine S . Chromophobe renal cell carcinoma: a clinicopathologic study of 203 tumors in 200 patients with primary resection at a single institution. Am J Surg Pathol. 2011; 35(7):962-70. DOI: 10.1097/PAS.0b013e31821a455d. View

Lichner Z, Scorilas A, White N, Girgis A, Rotstein L, Wiegand K . The chromatin remodeling gene ARID1A is a new prognostic marker in clear cell renal cell carcinoma. Am J Pathol. 2013; 182(4):1163-70. DOI: 10.1016/j.ajpath.2013.01.007. View

Banks R, Tirukonda P, Taylor C, Hornigold N, Astuti D, Cohen D . Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer. Cancer Res. 2006; 66(4):2000-11. DOI: 10.1158/0008-5472.CAN-05-3074. View

10.

Niu X, Zhang T, Liao L, Zhou L, Lindner D, Zhou M . The von Hippel-Lindau tumor suppressor protein regulates gene expression and tumor growth through histone demethylase JARID1C. Oncogene. 2011; 31(6):776-86. PMC: 4238297. DOI: 10.1038/onc.2011.266. View

11.

Maxwell P, Wiesener M, Chang G, Clifford S, Vaux E, Cockman M . The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis. Nature. 1999; 399(6733):271-5. DOI: 10.1038/20459. View

12.

Brunelli M, Delahunt B, Gobbo S, Tardanico R, Eccher A, Bersani S . Diagnostic usefulness of fluorescent cytogenetics in differentiating chromophobe renal cell carcinoma from renal oncocytoma: a validation study combining metaphase and interphase analyses. Am J Clin Pathol. 2009; 133(1):116-26. DOI: 10.1309/AJCPSATJTKBI6J4N. View

13.

Kovac M, Navas C, Horswell S, Salm M, Bardella C, Rowan A . Recurrent chromosomal gains and heterogeneous driver mutations characterise papillary renal cancer evolution. Nat Commun. 2015; 6:6336. PMC: 4383019. DOI: 10.1038/ncomms7336. View

14.

Parker A, Cheville J, Lohse C, Igel T, Leibovich B, Blute M . Loss of expression of von Hippel-Lindau tumor suppressor protein associated with improved survival in patients with early-stage clear cell renal cell carcinoma. Urology. 2005; 65(6):1090-5. DOI: 10.1016/j.urology.2004.12.040. View

15.

Pailoor J, Rajandram R, Yap N, Ng K, Wang Z, R Iyengar K . Chromosome 7 aneuploidy in clear cell and papillary renal cell carcinoma: detection using silver in situ hybridization technique. Indian J Pathol Microbiol. 2013; 56(2):98-102. DOI: 10.4103/0377-4929.118688. View

16.

Choueiri T, Cheville J, Palescandolo E, Fay A, Kantoff P, Atkins M . BRAF mutations in metanephric adenoma of the kidney. Eur Urol. 2012; 62(5):917-22. PMC: 4516083. DOI: 10.1016/j.eururo.2012.05.051. View

17.

Pavlovich C, Grubb 3rd R, Hurley K, Glenn G, Toro J, Schmidt L . Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome. J Urol. 2005; 173(5):1482-6. DOI: 10.1097/01.ju.0000154629.45832.30. View

18.

Eleveld M, Bodmer D, Merkx G, Siepman A, Sprenger S, Weterman M . Molecular analysis of a familial case of renal cell cancer and a t(3;6)(q12;q15). Genes Chromosomes Cancer. 2001; 31(1):23-32. DOI: 10.1002/gcc.1114. View

19.

Drut R, Drut R, Ortolani C . Metastatic metanephric adenoma with foci of papillary carcinoma in a child: a combined histologic, immunohistochemical, and FISH study. Int J Surg Pathol. 2001; 9(3):241-7. DOI: 10.1177/106689690100900313. View

20.

Corless C, Aburatani H, Fletcher J, Housman D, Amin M, Weinberg D . Papillary renal cell carcinoma: quantitation of chromosomes 7 and 17 by FISH, analysis of chromosome 3p for LOH, and DNA ploidy. Diagn Mol Pathol. 1996; 5(1):53-64. DOI: 10.1097/00019606-199603000-00009. View