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Updated: Aug 14, 2026
Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Chromosomal translocations in cancer and their relevance for therapy
Tomohiko Taki1, Masafumi Taniwaki
1Department of Molecular Laboratory Medicine, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan.
Purpose Of Review:
Recurring chromosomal abnormalities are considered the primary genetic change in oncogenesis as well as an important indicator for tumor phenotype and clinical outcome. This review highlights recent findings regarding the genes associated with chromosomal translocations.
Recent Findings:
A great number of novel fusion genes associated with chromosomal translocations have been cloned. These novel fusion genes are found in the smaller part of various malignancies, and it can be expected that the significance of novel fusion gene occurrence for oncogenesis will be clarified in the not too distant future. Observation of high frequencies of mutations in NOTCH1, NPM and JAK2 in T-cell acute lymphoblastic leukemia, acute myeloid leukemia with normal karyotype and myeloproliferative disorders (polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis) have provided important suggestions for a better understanding of chromosomal translocations. This is because all these genes had already been identified as genes associated with chromosomal translocations in a small subset of specific phenotypes of hematologic malignancies.
Summary:
This review summarizes recent findings associated with chromosomal translocations including newly identified fusion genes, a novel mechanism of fusion gene formation and their relevance for novel targeted therapies. Continuing attempts to identify genes associated with chromosomal translocations can be expected to provide further insights into the significance of various gene alterations in cancer and the development of novel targeted therapies.
Insights
Recurring chromosomal abnormalities drive cancer. This review details newly discovered fusion genes from translocations, advancing our understanding of oncogenesis and targeted cancer therapies.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Chromosomal abnormalities are key drivers of oncogenesis.
- These abnormalities serve as crucial indicators of tumor phenotype and clinical prognosis.
- Understanding genes involved in translocations is vital for cancer research.
Purpose of the Study:
- To review recent findings on genes associated with chromosomal translocations.
- To highlight newly identified fusion genes and their roles in oncogenesis.
- To discuss the implications for novel targeted cancer therapies.
Main Methods:
- Literature review of recent studies on chromosomal translocations.
- Analysis of identified fusion genes in various malignancies.
- Examination of mutations in NOTCH1, NPM, and JAK2 in hematologic malignancies.
Main Results:
- Numerous novel fusion genes linked to chromosomal translocations have been identified.
- These fusion genes are implicated in a subset of malignancies.
- High mutation frequencies in NOTCH1, NPM, and JAK2 offer insights into translocation mechanisms.
Conclusions:
- Recent findings include newly identified fusion genes and novel formation mechanisms.
- The relevance of these findings for developing targeted therapies is discussed.
- Continued identification of translocation-associated genes will deepen understanding of cancer gene alterations and therapy development.
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