Next-generation sequencing for BCR-ABL1 kinase domain mutations in adult patients with Philadelphia chromosome-positive acute lymphoblastic leukemia: A position paper.
BCR-ABL1 tyrosine kinase
Philadelphia chromosome
Sanger sequencing
acute lymphoblastic leukemia
consensus development
next-generation sequencing
point mutation
Journal
Cancer medicine
ISSN: 2045-7634
Titre abrégé: Cancer Med
Pays: United States
ID NLM: 101595310
Informations de publication
Date de publication:
05 2020
05 2020
Historique:
received:
19
12
2019
revised:
15
01
2020
accepted:
12
02
2020
pubmed:
11
3
2020
medline:
15
5
2021
entrez:
11
3
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32154668
doi: 10.1002/cam4.2946
pmc: PMC7196068
doi:
Substances chimiques
Protein Kinase Inhibitors
0
Fusion Proteins, bcr-abl
EC 2.7.10.2
Banques de données
GENBANK
['NM_005157.5']
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
2960-2970Informations de copyright
© 2020 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.
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