Regulatory Status: CE-IVD, LDT
Quantitation of BCR-ABL Minor fusion gene transcripts (e1a2) 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 minor breakpoint translocation are diagnosed by the formation of BCR-ABL fusion gene e1a2 that encode for a p190 protein via breakpoint occurring at exon 1 (e1) with second exon of ABL gene (a2). The encoded p190 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.