Related Experiment Video
Updated: Aug 19, 2026
The Use of Reverse Phase Protein Arrays (RPPA) to Explore Protein Expression Variation within Individual Renal Cell Cancers
Published on: January 22, 2013
Molecular differential pathology of renal cell tumours
1National Cancer Centre Research Institute, Genetics Division, Tokyo, Japan.
Abstract:
Recent application of molecular cytogenetic techniques to the evaluation of renal cell tumours revealed four subtypes, each with a characteristic combination of genetic alterations within the chromosomal and mitochondrial DNA. The most common, nonpapillary renal cell carcinomas are characterized by the loss of chromosome 3p sequences, rearrangement of the chromosome 5q region and loss of the chromosome 14q sequences. Papillary renal cell tumours can be divided into two groups. Tumours with a combined trisomy of chromosomes 7 and 17 as well as loss of the Y chromosome are papillary renal cell adenomas. Tumours with additional trisomies such as trisomy 16, 20 or 12 are papillary renal cell carcinomas. Chromophobe renal cell carcinomas show a combination of allelic losses, which do not occur in other types of renal tumours. In addition, they have a rearrangement in the mitochondrial DNA. Renal oncocytomas are benign tumours marked by normal or abnormal karyotypes with balanced or unbalanced translocations and an altered restriction pattern of the mitochondrial DNA. Although the major cytological characteristics of renal cell tumours, such as clear, granular, chromophobe and oncocytic cell phenotypes correspond to nonpapillary, papillary and chromophobe renal cell carcinomas and renal oncocytomas, there are many cases with overlapping phenotype. Therefore, a classification of renal cell tumours based on specific genetic alterations is proposed.
Insights
Molecular cytogenetics reveals four renal cell tumor subtypes based on genetic alterations. This classification aids diagnosis, especially when cell appearance overlaps between tumor types.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Renal cell tumors exhibit diverse cytological phenotypes.
- Overlapping phenotypes complicate traditional classification.
- Molecular cytogenetic techniques offer new diagnostic insights.
Purpose of the Study:
- To classify renal cell tumors based on specific genetic alterations.
- To differentiate between various renal cell tumor subtypes.
- To propose a novel classification system for renal cell tumors.
Main Methods:
- Application of molecular cytogenetic techniques.
- Analysis of chromosomal DNA alterations (e.g., losses, rearrangements, trisomies).
- Evaluation of mitochondrial DNA alterations.
Main Results:
- Nonpapillary renal cell carcinomas: loss of 3p, rearrangement of 5q, loss of 14q.
- Papillary renal cell tumors: trisomies 7 & 17/loss of Y (adenomas); additional trisomies (carcinomas).
- Chromophobe renal cell carcinomas: unique allelic losses and mitochondrial DNA rearrangement.
- Renal oncocytomas: normal/abnormal karyotypes, translocations, altered mitochondrial DNA.
Conclusions:
- Specific genetic alterations characterize distinct renal cell tumor subtypes.
- A classification based on genetic profiles is proposed.
- This approach aids in accurate diagnosis, especially with overlapping phenotypes.
