Next-generation sequencing for BCR-ABL1 kinase domain mutation testing in patients with chronic myeloid leukemia: a position paper

Simona Soverini, Elisabetta Abruzzese, Monica Bocchia, Massimiliano Bonifacio, Sara Galimberti, Antonella Gozzini, Alessandra Iurlo, Luigiana Luciano, Patrizia Pregno, Gianantonio Rosti, Giuseppe Saglio, Fabio Stagno, Mario Tiribelli, Paolo Vigneri, Giovanni Barosi, Massimo Breccia

Research output: Contribution to journalReview articlepeer-review


BCR-ABL1 kinase domain (KD) mutation status is considered to be an important element of clinical decision algorithms for chronic myeloid leukemia (CML) patients who do not achieve an optimal response to tyrosine kinase inhibitors (TKIs). Conventional Sanger sequencing is the method currently recommended to test BCR-ABL1 KD mutations. However, Sanger sequencing has limited sensitivity and cannot always discriminate between polyclonal and compound mutations. The use of next-generation sequencing (NGS) is increasingly widespread in diagnostic laboratories and represents an attractive alternative. Currently available data on the clinical impact of NGS-based mutational testing in CML patients do not allow recommendations with a high grade of evidence to be prepared. This article reports the results of a group discussion among an ad hoc expert panel with the objective of producing recommendations on the appropriateness of clinical decisions about the indication for NGS, the performance characteristics of NGS platforms, and the therapeutic changes that could be applied based on the use of NGS in CML. Overall, these recommendations might be employed to inform clinicians about the practical use of NGS in CML.

Original languageEnglish
Number of pages1
JournalJournal of hematology & oncology
Issue number1
Publication statusPublished - Dec 5 2019


  • BCR-ABL1 mutation
  • Chronic myeloid leukemia
  • Next-generation sequencing
  • Sanger sequencing

ASJC Scopus subject areas

  • Molecular Biology
  • Hematology
  • Oncology
  • Cancer Research


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