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Chap 5 - MOLECULAR GENETICS OF SOFT TISSUE TUMORS

Published online by Cambridge University Press:  01 March 2011

By
Jerzy Lasota
Edited by
Markku Miettinen
Markku Miettinen
Affiliation:
Armed Forces Institute of Pathology, Washington DC
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Summary

It is now widely accepted that cancer is caused by accumulation of genetic and epigenetic changes that complement one another. These changes lead to destabilization of cellular growth control and promote uncontrolled clonal proliferation and tumor development.

Many genetic alterations affect the function of growth-controlling genes, often called oncogenes and tumor suppressor genes. The gain of function of oncogenes and loss of function of tumor suppressor genes are among the major molecular events in the development of human cancer. The identification of epigenetic and genetic abnormalities in the cancer genome and the understanding of their functional consequences are leading to the development of new diagnostic approaches and better treatment strategies targeting the affected gene products and their signaling pathways.

The ongoing “genetic revolution” continues to deliver data that have already had an impact on the surgical pathology of soft tissue tumors. Detection of specific translocations and gene fusion products can be used as disease-specific markers to improve the diagnosis and prognosis of soft tissue tumors. Other genetic changes, such as amplification of oncogenes and silencing of tumor suppressor genes, can correlate with favorable or poor clinical outcomes. Finally, specific genetic and epigenetic changes can be used in the molecular staging of diseases by screening peripheral blood, bone marrow, or other fluids for minimal residual disease or micrometastases.

Integration of genetics and epigenetics into surgical pathology of soft tissue tumors is expanding. Further studies will add new diagnostic and prognostic assays and define new approaches to cancer therapy.

Type
Chapter
Information
Modern Soft Tissue Pathology
Tumors and Non-Neoplastic Conditions
 , pp. 127 - 180
Publisher: Cambridge University Press
Print publication year: 2010

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