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 pit-falls in obtaining, transporting, and analyzing neoplastic samples which can compromise cytogenetic studies and preclude its use as a diagnostic tool.
Keen-Kim
Dianne
D
Department of Pathology and Laboratory Medicine, UCLA Clinical and Molecular Cytogenetics Laboratory, University of California Los Angeles, Los Angeles, CA 90024, USA. keenkim@hotmail.com
Nooraie
Farzad
F
Rao
P Nagesh
PN
D001859:Bone Neoplasms / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D019337:Hematologic Neoplasms / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics; D015470:Leukemia, Myeloid, Acute / Q000235:genetics; D016393:Lymphoma, B-Cell / Q000235:genetics; D016399:Lymphoma, T-Cell / Q000235:genetics; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics; D009369:Neoplasms / Q000175:diagnosis / Q000235:genetics*; D001749:Urinary Bladder Neoplasms / Q000235:genetics
D005819:Genetic Markers