Regulatory Status: CE-IVD, LDT
Quantitation of BCR-ABL Major fusion gene transcripts (b2a2 and b3a2) by qPCR from peripheral blood.
Chronic Myeloid Leukemia (CML) or Acute Lymphoblastic Leukemia (ALL) is a myeloproliferative neoplasm characterized by a balanced genetic translocation between the Abelson (ABL) oncogene on chromosome 9 and breakpoint cluster region (BCR) on chromosome 22 t(9;22)(q34;q11). The deriving shorter chromosome 22 is termed the Philadelphia chromosome with a chimeric BCR-ABL gene that varies in size, depending on the breakpoint in the BCR gene. Patients with BCR-ABL Major breakpoint translocation are diagnosed by the formation of BCR-ABL fusion gene that encode for a p210 protein. b2a2 and b3a2 are the most common fusion gene variants for BCR-ABL Major. The encoded p210 protein has an elevated tyrosine kinase activity that is implicated with the pathogenesis of the disease1.
1) Pane F, Intrieri M, Quintarelli C, Izzo B, Muccioli GC, Salvatore F. BCR/ABL genes and leukemic phenotype: from molecular mechanisms to clinical correlations. Oncogene 21. 2002;8652–67.