TY - JOUR
T1 - Next-generation sequencing for BCR-ABL1 kinase domain mutation testing in patients with chronic myeloid leukemia: a position paper
AU - Soverini, Simona
AU - Abruzzese, Elisabetta
AU - Bocchia, Monica
AU - Bonifacio, Massimiliano
AU - Galimberti, Sara
AU - Gozzini, Antonella
AU - Iurlo, Alessandra
AU - Luciano, Luigiana
AU - Pregno, Patrizia
AU - Rosti, Gianantonio
AU - Saglio, Giuseppe
AU - Stagno, Fabio
AU - Tiribelli, Mario
AU - Vigneri, Paolo
AU - Barosi, Giovanni
AU - Breccia, Massimo
PY - 2019/12/5
Y1 - 2019/12/5
N2 - 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.
AB - 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.
KW - BCR-ABL1 mutation
KW - Chronic myeloid leukemia
KW - Next-generation sequencing
KW - Sanger sequencing
U2 - 10.1186/s13045-019-0815-5
DO - 10.1186/s13045-019-0815-5
M3 - Article
VL - 12
SP - 131
JO - Journal of Hematology and Oncology
JF - Journal of Hematology and Oncology
SN - 1756-8722
IS - 1
ER -