Next-generation sequencing for BCR-ABL1 kinase domain mutations in adult patients with Philadelphia chromosome-positive acute lymphoblastic leukemia: A position paper.
Simona SoveriniFrancesco AlbanoRenato BassanFrancesco FabbianoFelicetto FerraraRobin FoàAttilio OlivieriAlessandro RambaldiGiuseppe RossiSimona SicaGiorgina SpecchiaAdriano VendittiGiovanni BarosiFabrizio PanePublished in: Cancer medicine (2020)
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.
Keyphrases
- acute lymphoblastic leukemia
- chronic myeloid leukemia
- tyrosine kinase
- stem cell transplantation
- epidermal growth factor receptor
- copy number
- allogeneic hematopoietic stem cell transplantation
- high dose
- mental health
- acute myeloid leukemia
- human health
- emergency department
- climate change
- combination therapy
- adverse drug
- low dose
- cell free
- smoking cessation