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Updated: May 17, 2026
09:49
Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Morphologic features of carcinomas with recurrent gene fusions
1Department of Pathology, Shandong University Medical School, Jinan, China.
Advances in Anatomic Pathology
|October 13, 2012
Summary
Recurrent gene fusions, once overlooked in carcinomas, are now recognized as key drivers in epithelial cancers. Understanding their histologic features aids in diagnosis, classification, and targeted therapy development.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Recurrent gene fusions are established drivers in hematologic malignancies but were historically understudied in carcinomas due to technical limitations.
- Recent advancements have identified numerous recurrent gene fusions in epithelial cancers, such as TMPRSS2-ERG in prostate cancer.
- These fusion genes are emerging as crucial diagnostic markers, aiding molecular classification and presenting potential therapeutic targets.
Purpose of the Study:
- To review the histologic features associated with recurrent genomic rearrangements in carcinomas.
- To highlight specific examples like TMPRSS2-ERG in prostate cancer and EML4-ALK in lung cancer.
- To explore how these features can assist pathologists in identifying fusion-positive tumors.
Main Methods:
- Review of existing literature on recurrent gene fusions and their associated histologic phenotypes in carcinomas.
- Focus on specific fusion genes including TMPRSS2-ERG, EML4-ALK, ETV6-NTRK3, RET/PTC, and PAX8/PPARγ1.
- Discussion of integrating histologic findings with other screening methods like immunohistochemistry.
Main Results:
- Recurrent gene fusions are increasingly identified in various carcinomas, influencing tumor phenotype.
- Specific fusion genes (e.g., TMPRSS2-ERG, EML4-ALK) have characteristic histologic features.
- Histologic patterns can serve as indicators for the presence of gene fusions, prompting further molecular investigation.
Conclusions:
- Histologic examination is valuable for recognizing fusion-positive carcinomas.
- Understanding the genotype-phenotype correlation of gene fusions aids in diagnosis and classification.
- Combining histologic assessment with molecular screening strategies enhances the detection of these important genomic alterations.
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