Related Experiment Video
Updated: May 23, 2026
08:16
Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
Renal cell neoplasms contain shared tumor type-specific copy number variations
John M Krill-Burger1, Maureen A Lyons, Lori A Kelly
1Department of Pathology, University of Pittsburgh, Pittsburgh, PA 15232, USA.
The American Journal of Pathology
|April 10, 2012
Summary
Copy number variant (CNV) analysis reveals distinct genomic alterations across renal cell carcinoma (RCC) subtypes. These CNV patterns may serve as potential diagnostic and prognostic biomarkers for RCC.
Area of Science:
- Genomics
- Oncology
- Molecular Biology
Background:
- Renal cell carcinoma (RCC) is a heterogeneous disease with diverse subtypes.
- Understanding the genomic landscape of different RCC subtypes is crucial for diagnosis and treatment.
Purpose of the Study:
- To identify common copy number variant (CNV) segments specific to different subtypes of renal cell carcinoma (RCC).
- To explore the potential of these CNVs as diagnostic or prognostic biomarkers.
Main Methods:
- High-resolution array comparative genomic hybridization (aCGH) was employed.
- Analysis of CNVs across multiple RCC subtypes: chromophobe, clear cell, oncocytoma, papillary type 1, and papillary type 2.
- Identification of common and subtype-specific CNV segments, including deletions and amplifications.
Main Results:
- Significant heterogeneity in CNV profiles was observed across and within RCC subtypes.
- Distinct CNV segments were identified as common within chromophobe, clear cell, oncocytoma, and papillary type 2 RCC.
- Specific genes and microRNAs within CNV regions were highlighted, including those involved in histone modification and chromatin remodeling.
- Papillary type 1 RCC showed no common CNV regions but exhibited numerous amplifications and deletions.
Conclusions:
- CNV analysis reveals subtype-specific genomic signatures in RCC.
- Identified CNV regions and affected genes represent potential biomarkers for RCC diagnosis and prognosis.
- Further validation is warranted to translate these findings into clinical applications.
Related Concept Videos
02:26Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
02:21Cancers Originate from Somatic Mutations in a Single Cell
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
02:21Cancers Originate from Somatic Mutations in a Single Cell
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
01:20The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
01:20The Retinoblastoma Gene
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
02:18Cancer
Cancers arise due to mutations in genes involved in the regulation of cell division, which leads to unrestricted cell proliferation. Modern science and medicine have made great strides in the understanding and treatment of cancer, including eradicating cancer in some patients. However, there is still no cure for cancer. This is largely due to the fact that cancer is a large group of many diseases.