Laboratory practice guidelines for detecting and reporting BCR-ABL drug resistance mutations in chronic myelogenous leukemia and acute lymphoblastic leukemia

Dan Jones, Suzanne Kamel-Reid, David Bahler, Henry Dong, Kojo Elenitoba-Johnson, Richard Press, Neil Quigley, Paul Rothberg, Dan Sabath, David Viswanatha, Karen Week, James Zehnder

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)4-11
Number of pages8
JournalJournal of Molecular Diagnostics
Volume11
Issue number1
DOIs
StatePublished - Jan 2009

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ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine

Cite this

Jones, D., Kamel-Reid, S., Bahler, D., Dong, H., Elenitoba-Johnson, K., Press, R., Quigley, N., Rothberg, P., Sabath, D., Viswanatha, D., Week, K., & Zehnder, J. (2009). Laboratory practice guidelines for detecting and reporting BCR-ABL drug resistance mutations in chronic myelogenous leukemia and acute lymphoblastic leukemia. Journal of Molecular Diagnostics, 11(1), 4-11. https://doi.org/10.2353/jmoldx.2009.080095