Cytogenetic biomarkers for human cancer

Human cancer cytogenetics is the study of chromosomal rearrangements and numerical abnormalities in malignant tissue. Since the 1960s and the discovery of the Philadelphia chromosome, hundreds of common and characteristic chromosomal aberrations have been observed in various neoplasias. Because these cytogenetic aberrations provide diagnostic, prognostic, and treatment-related information for the associated cancers, they are considered biomarkers for disease. Here we describe many of the best-known chromosome rearrangements and variant rearrangements in hematologic disease and solid tumors, indicate the genes and underlying molecular mechanisms known to be involved in development and progression of disease, and describe the newer molecular cytogenetic technologies and how they are currently being used in cancer diagnostics. We also highlight many important pitfalls in obtaining, transporting, and analyzing neoplastic samples which can compromise cytogenetic studies and preclude its use as a diagnostic tool.