TY - JOUR
T1 - Laboratory practice guidelines for detecting and reporting BCR-ABL drug resistance mutations in chronic myelogenous leukemia and acute lymphoblastic leukemia
AU - Jones, Dan
AU - Kamel-Reid, Suzanne
AU - Bahler, David
AU - Dong, Henry
AU - Elenitoba-Johnson, Kojo
AU - Press, Richard
AU - Quigley, Neil
AU - Rothberg, Paul
AU - Sabath, Dan
AU - Viswanatha, David
AU - Week, Karen
AU - Zehnder, James
PY - 2009/1
Y1 - 2009/1
N2 - The BCR-ABL tyrosine kinase produced by the t(9; 22Xq34;q11) translocation, also known as the Philadelphia chromosome, is the initiating event in chronic myeloid leukemia (CML) and Ph+ acute lymphoblastic leukemia (ALL). Targeting of BCR-ABL with tyrosine kinase inhibitors (TKIs) has resulted in rapid clinical responses in the vast majority of patients with CML and Philadelphia chromosome + ALL. However, long-term use of TKIs occasionally results in emergence of therapy resistance, in part through the selection of clones with mutations in the BCR-ABL kinase domain. We present here an overview of the current practice in monitoring for such mutations, including the methods used, the clinical and laboratory criteria for triggering mutational analysis, and the guidelines for reporting BCR-ABL mutations. We also present a proposal for a public database for correlating mutational status with in vitro and in vivo responses to different TKIs to aid in the interpretation of mutation studies.
AB - The BCR-ABL tyrosine kinase produced by the t(9; 22Xq34;q11) translocation, also known as the Philadelphia chromosome, is the initiating event in chronic myeloid leukemia (CML) and Ph+ acute lymphoblastic leukemia (ALL). Targeting of BCR-ABL with tyrosine kinase inhibitors (TKIs) has resulted in rapid clinical responses in the vast majority of patients with CML and Philadelphia chromosome + ALL. However, long-term use of TKIs occasionally results in emergence of therapy resistance, in part through the selection of clones with mutations in the BCR-ABL kinase domain. We present here an overview of the current practice in monitoring for such mutations, including the methods used, the clinical and laboratory criteria for triggering mutational analysis, and the guidelines for reporting BCR-ABL mutations. We also present a proposal for a public database for correlating mutational status with in vitro and in vivo responses to different TKIs to aid in the interpretation of mutation studies.
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U2 - 10.2353/jmoldx.2009.080095
DO - 10.2353/jmoldx.2009.080095
M3 - Article
C2 - 19095773
AN - SCOPUS:58849115010
SN - 1525-1578
VL - 11
SP - 4
EP - 11
JO - Journal of Molecular Diagnostics
JF - Journal of Molecular Diagnostics
IS - 1
ER -