Chronic myeloid leukemia: Relevance of cytogenetic and molecular assays.

摘要: Chronic myeloid leukemia (CML) is the prototype cytogenetic malignancy. Even before development of basic G- and R-banding techniques, CML was found to be associated with a persistent chromosomal abnormality, Philadelphia (Ph) chromosome. Banding technology later showed marker chromosome translocation between breakpoint cluster region (BCR) on 22q11.2 Abelson proto-oncogene (ABL) 9q34. Further advances in molecular biology have also contributed understanding, diagnosis, treatment CML. Fluorescent situ hybridization (FISH) has revealed cryptic translocations most cases Ph-negative Additional rare variant been discovered as well. The understanding physiopathology led use tyrosine kinase inhibitors for this disease spectacular success. Over 40 years since being identified first disease, become greatest success translating science oncology into patients cancer. In review we will not only summarize CML, recent progress delineation mechanisms strategies, but discuss laboratory tools used diagnosing monitoring during revealing point mutations additional abnormalities. doing so, describe detail our individual research identifying why how these tests were performed help explain subgroups clinical significance