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Molecular Cytogenetics in Solid Tumors: Laboratorial Tool for Diagnosis, Prognosis, and Therapy

Department of Medicine, Medical Oncology Division, University of Colorado Cancer Center, University of Colorado Health Sciences Center, Denver, Colorado, USA

Correspondence: Marileila Varella-Garcia, Ph.D., University of Colorado Health Sciences Center, Campus Box B188, 4200 East 9th Avenue, Denver, Colorado 80262, USA. Telephone: 303-315-3593; Fax: 303-315-3304; e-mail: marileila.garcia{at}uchsc.edu

The remarkable progress in the understanding of leukemogenesis was soundly sustained by methodological developments in the cytogenetic field. Nonrandom chromosomal abnormalities frequently associated with specific types of hematological disease play a major role in their diagnosis and have been demonstrated as independent prognostic indicators. Molecular pathways altered by chimeric or deregulated proteins as a consequence of chromosomal abnormalities have also significantly contributed to the development of targeted therapies, and cytogenetic assays are valuable for selecting patients for treatment and monitoring outcome. In solid tumors, significantly high levels of chromosome abnormalities have been detected, but distinction between critical and irrelevant events has been a major challenge. Consequently, the application of cytogenetic technology as diagnostic, prognostic, or therapeutic tools for these malignancies remains largely underappreciated. The emergence of molecular-based techniques such as fluorescence in situ hybridization was particularly useful for solid malignancies, and the spectrum of their application is rapidly expanding to improve efficiency and sensitivity in cancer prevention, diagnosis, prognosis, and therapy selection, alone or in combination with other diagnostic methods. This overview illustrates current uses and outlines potential applications for molecular cytogenetics in clinical oncology.

Key Words. Cytogenetics • Fluorescence in situ hybridization (FISH) • Interphase FISH • Biomarker • Target therapy

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