BCR::ABL1 and AML Translocation Identification (Accredited)

Programme objective  To assess a laboratory’s ability to accurately determine t(9;22) BCR::ABL1 (Major and Minor breakpoints), t(8;21) RUNX1::RUNX1T1,  inv(16) CBFB::MYH11 and t(15;17) PML::RARA rearrangement status by molecular methods.

Clinical/scientific background Detecting the presence of the Philadelphia chromosome (fusion of the BCR gene on Chromosome 22 to the ABL1 gene on chromosome 9) is essential in the diagnosis of Chronic Myeloid Leukaemia and initiation of Tyrosine Kinase Inhibitor (TKI) therapy. Acute Myeloid Leukaemia (AML) is a heterogeneous group of disorders that is further classified by the presence of clinically significant genetic variants, including fusion oncogenes resulting from recurrent chromosomal rearrangements. The ability to determine the presence of such rearrangements is therefore essential in the treatment and prognosis of AML.

Suitability  Any molecular genetic approach for the detection of  t(9;22) BCR::ABL1, t(8;21) RUNX1::RUNX1T1,  inv(16) CBFB::MYH11 and t(15;17) PML::RARA rearrangement, subject to the test repertoire of the participating laboratory.

Sample type/distribution  Two lyophilised cell line-based samples are issued three times per annum, one for BCR::ABL1 analysis and one for AML rearrangement analysis.  Additional educational samples may also be provided e.g. featuring a rare BCR::ABL1 transcript or a further clinically significant rearrangement associated with AML.  All samples mimic diagnostic specimens and are therefore not suitable for Measurable Residual Disease (MRD) analysis. Participants are asked to submit qualitative results together with details of the methodology used. Instructions for storage, reconstitution and use of the lyophilised samples are included with the samples.  The trial schedule can be found here: https://www.ukneqasli.co.uk/eqa-pt-programmes/trial-schedules/

Trial duration Trials for this programme are live/open for a minimum of four weeks. Please note, trials issued/closing in August or December are extended by one week. An automated email is sent two days prior to the trial closing, to any participant that has not returned results, warning them of the trial closure date.

Subcontracted areas  Pre-issue and post-closure testing of samples for this programme are subcontracted, although the final decision about sample suitability lies with the EQA provider; no other activities in relation to this EQA programme are subcontracted.

Updates to the programme for current or upcoming year  We plan to issue an educational sample featuring a rare BCR::ABL1 transcript within the next 12 months. 

Fusion Gene Nomenclature  Following publication of the HUGO Gene Nomenclature Committee (HGNC) consensus statement regarding fusion gene nomenclature¹, UK NEQAS LI are working to implement use of the double colon (::) for the description of fusion genes (e.g. BCR::ABL1). Historical nomenclature (e.g. BCR-ABL1) may persist in some areas of our website and documentation for an interim period due to IT constraints.

1.  Bruford EA, et al. HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions. Leukemia 35:3040–3043 (2021).

To register for this programme, please click here.