help  | about  | cite  | software

Pathway : Chronic myeloid leukemia

Identifier  05220 Description  Chronic myelogenous leukemia CML originates in a pluripotent hematopoetic stem cell of the bone marrow and is characterized by greatly increased numbers of granulocytes in the blood Myeloid and other hematopoetic cell lineages are involved in the process of clonal proliferation and differentiation On the cellular level, CML is associated with a specific chromosome abnormality, the t9; 22 reciprocal translocation that forms the Philadelphia Ph chromosome The Ph chromosome is the result of a molecular rearrangement between the c-ABL proto-oncogene on chromosome 9 and the BCR breakpoint cluster region gene on chromosome 22  The BCR/ABL fusion gene encodes p210 BCR/ABL, an oncoprotein, which, unlike the normal p145 c-Abl, has constitutive tyrosine kinase activity and is predominantly localized in the cytoplasm While fusion of c-ABL and BCR is believed to be the primary cause of the chronic phase of CML, progression to blast crisis requires other molecular changes Common secondary abnormalities include mutations in TP53, RB, and p16/INK4A, or overexpression of genes such as EVI1 Additional chromosome translocations are also observed,such as t3;21q26;q22, which generates AML1-EVI1

1 Data Sets

146 Genes

0 Proteins