The WHO classification of haematopoietic tumours uses genetic markers to aid in the classification of Precursor Lymphoid Neoplasms. The identification of the t(12;21) (TEL::AML1 or ETV6::RUNX1), t(4;11) (KMT2A::AFF1 or MLL::AF4) and t(1;19) (E2A::PBX1 or TCF3::PBX1) are useful diagnostic tools and also have prognostic significance that allow for therapeutic stratification.
In this programme participants are provided with lyophilised cell-lines for t(12;21) (TEL::AML1 or ETV6::RUNX1), t(4;11) (KMT2A::AFF1 or MLL::AF4) and t(1;19) (E2A::PBX1 or TCF3::PBX1) analysis. Participants are asked to submit qualitative results, together with details of the methodology. All samples mimic diagnostic specimens and are therefore not suitable for MRD analysis; this may be subject to change dependent on participants’ feedback. Instructions for storage, reconstitution and use of the lyophilised samples are included with the samples. Three send-outs are issued per annum, with each send-out consisting of two samples.
Fusion Gene Nomenclature - Latest Update
Following the recent publication of the HUGO Gene Nomenclature committee (HGNC) consensus statement regarding fusion gene nomenclature (Bruford et al. 2021), 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.
Bruford EA, et al. HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions. Leukemia. 2021
Pre issue testing of samples for this programme is subcontracted, although the final decision about sample suitability lies with the EQA provider; no other activities in relation to this EQA programme are subcontracted.
To register for this programme, please click here.