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

• Published in: Journal of hematology and oncology Vol. 12; no. 1; p. 131
• Main Authors: Soverini, Simona, Abruzzese, Elisabetta, Bocchia, Monica, Bonifacio, Massimiliano, Galimberti, Sara, Gozzini, Antonella, Iurlo, Alessandra, Luciano, Luigiana, Pregno, Patrizia, Rosti, Gianantonio, Saglio, Giuseppe, Stagno, Fabio, Tiribelli, Mario, Vigneri, Paolo, Barosi, Giovanni, Breccia, Massimo
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 05.12.2019; BioMed Central; BMC
• Subjects: Algorithms; Antineoplastic agents; BCR protein; BCR-ABL1 mutation; Bosutinib; Care and treatment; Chronic myeloid leukemia; Clinical medicine; Dasatinib; DNA sequencing; Gene expression; Hematology; Kinases; Leukemia; Mutation; Myeloid leukemia; Next-generation sequencing; Nilotinib; Oncology; Phenols (Class of compounds); Ponatinib; Protein-tyrosine kinase; Review; Sanger sequencing; Tyrosine; Canada; Next-generation sequencing; Chronic myeloid leukemia; Sanger sequencing; BCR-ABL1 mutation
• ISSN: 1756-8722; 1756-8722
• DOI: 10.1186/s13045-019-0815-5

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.