Soon after the introduction of Imatinib in 2001, evidence began to emerge that cells carrying the BCR-ABL1 mutation (Philadelphia positive (Ph+)) had the potential to evolve to gain Tyrosine Kinase Inhibitor (TKI) drug resistance. To date over 90 different point mutations in the ABL1 kinase domain (KD) have been identified in patients with resistance to first generation TKI. The detection of certain mutations are clinically important and impact upon patient management. The detection of 315I is a poor prognosis marker as this mutation confers resistance to first and second generation TKI’s.
In this programme participants are provided with lyophilised cell-lines for BCR-ABL1 Kinase Domain mutations status analysis. The cell lines have been kindly provided by Dr Paul La Rosee. Participants are asked to submit qualitative results of the mutations detected, together with details of the methodology. Instructions for storage, reconstitution and use of the lyophilised samples are included with the samples. Two send-outs are issued per annum, with each send-out consisting of three samples.
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.