Next-generation sequencing for BCR-ABL1 kinase domain mutations in adult patients with Philadelphia chromosome-positive acute lymphoblastic leukemia: A position paper.

Publisher: John Wiley & Sons Ltd Country of Publication: United States NLM ID: 101595310 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2045-7634 (Electronic) Linking ISSN: 20457634 NLM ISO Abbreviation: Cancer Med Subsets: MEDLINE

Original Publication: [Malden, MA] : John Wiley & Sons Ltd., c2012-

Mutation* ; Philadelphia Chromosome*; Drug Resistance, Neoplasm/*genetics ; Fusion Proteins, bcr-abl/*genetics ; High-Throughput Nucleotide Sequencing/*methods ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/*pathology; Humans ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Protein Kinase Inhibitors/therapeutic use

Emergence of clones carrying point mutations in the BCR-ABL1 kinase domain (KD) is a common mechanism of resistance to tyrosine kinase inhibitor (TKI)-based therapies in Philadelphia chromosome-positive (Ph+) acute lymphoblastic leukemia (ALL). Sanger sequencing (SS) is the most frequently used method for diagnostic BCR-ABL1 KD mutation screening, but it has some limitations-it is poorly sensitive and cannot robustly identify compound mutations. Next-generation sequencing (NGS) may overcome these problems. NSG is increasingly available and has the potential to become the method of choice for diagnostic BCR-ABL1 KD mutation screening. A group discussion within an ad hoc constituted Panel of Experts has produced a series of consensus-based statements on the potential value of NGS testing before and during first-line TKI-based treatment, in relapsed/refractory cases, before and after allo-stem cell transplantation, and on how NGS results may impact on therapeutic decisions. A set of minimal technical and methodological requirements for the analysis and the reporting of results has also been defined. The proposals herein reported may be used to guide the practical use of NGS for BCR-ABL1 KD mutation testing in Ph+ ALL.
(© 2020 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.)

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Keywords: BCR-ABL1 tyrosine kinase; Philadelphia chromosome; Sanger sequencing; acute lymphoblastic leukemia; consensus development; next-generation sequencing; point mutation

GENBANK NM_005157.5

0 (Protein Kinase Inhibitors)
EC 2.7.10.2 (Fusion Proteins, bcr-abl)

Date Created: 20200311 Date Completed: 20210514 Latest Revision: 20210514

20231215

PMC7196068

10.1002/cam4.2946

32154668