CHRONIC MYELOID LEUKAEMIA (CML): BCR-ABL DIAGNOSTIC SCREEN & MONITORING

BCR-ABL Diagnostic Screen & Monitoring

A BCR-ABL transcript is formed as a result of a t(9;22) translocation, this is commonly known as the Philadelphia chromosome. BCR-ABL transcripts can be identified by RT-PCR in more than 95% of cases of Chronic Myeloid Leukaemia (CML), 25% of adult cases of Acute Lymphoblastic Leukaemia (ALL), 5% of childhood cases of ALL and 1% of cases of Acute Myeloid Leukaemia (AML). BCR-ABL transcripts are detected by amplifying across the common t(9;22) breakpoints using RT-PCR (Cross et al. (1994) Leukaemia 8 (1) 186-189). The PCR primers used are designed to amplify three different t(9;22) translocation breakpoints (e13a2, e14a2, e1a2). BCR-ABL transcript levels can be quantified by Real-Time PCR to monitor response to treatment.

Laboratory contact: Dr. Caroline Wickham 01392 408248 caroline.wickham@nhs.net

Clinical contact: Dr. Paul Kerr 01392 402917 paul.kerr1@nhs.net

The laboratory participates in the NEQAS BCR-ABL and AML Translocation Identification Programme and the NEQAS BCR-ABL Quantitation EQA scheme