Chronic myeloid leukemia (CML) is
myeloproliferative clonal neoplasm with pluripotent hematopoietic stem cell
origin. BCR-ABL fusion gene results from a balanced reciprocal translocation
between BCR (Breakpoint cluster region) and ABL (Abelson) genes is the main
finding in CML.
Transposition of ABL proto-oncogene
from chromosome 9 to BCR on chromosome 22 is either at chromosome level
[Philadelphia (Ph) chromosome t(9;22)(q34;q11)] or cryptic at gene level.
BCR-ABL encodes an unregulated, cytoplasm-targeted tyrosine kinase, leading to
uninhibited cell proliferation.
CML is a triphasic disease,
chronic-phase (CP), accelerated-phase (AP), and blast-phase (BP). Most patients
are asymptomatic and diagnosed in CP; most patients will progress to rapidly
fatal BP within 3–5 years if untreated.
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