1. Minimal residual disease monitoring in childhood B lymphoblastic leukemia with t(12;21)(p13;q22);ETV6-RUNX1: concordant results using quantitation of fusion transcript and flow cytometry
- Author
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Jonas Abrahamsson, Sofie Johansson Alm, Linda Fogelstrand, C. Engvall, Lars Palmqvist, and Julia Asp
- Subjects
Oncology ,medicine.medical_specialty ,Neoplasm, Residual ,Adolescent ,Oncogene Proteins, Fusion ,Chromosomes, Human, Pair 21 ,Clinical Biochemistry ,Chromosomal translocation ,Translocation, Genetic ,Flow cytometry ,Fusion gene ,03 medical and health sciences ,0302 clinical medicine ,Precursor B-Cell Lymphoblastic Leukemia-Lymphoma ,hemic and lymphatic diseases ,Internal medicine ,medicine ,Humans ,RNA, Neoplasm ,Child ,Chromosomes, Human, Pair 12 ,medicine.diagnostic_test ,Reverse Transcriptase Polymerase Chain Reaction ,business.industry ,Biochemistry (medical) ,Hematology ,General Medicine ,Flow Cytometry ,Minimal residual disease ,Reverse transcription polymerase chain reaction ,medicine.anatomical_structure ,Real-time polymerase chain reaction ,Fusion transcript ,Child, Preschool ,030220 oncology & carcinogenesis ,Core Binding Factor Alpha 2 Subunit ,Immunology ,Bone marrow ,business ,030215 immunology - Abstract
Introduction The translocation t(12;21)(p13;q22) resulting in the fusion gene ETV6-RUNX1, is the most frequent gene fusion in childhood B lymphoblastic leukemia. In the Nordic Society of Paediatric Haematology and Oncology ALL-2008 treatment protocol, treatment stratification in B-lineage ALL is based on results of minimal residual disease (MRD) analysis with fluorescence-activated cell sorting (FACS). In this study, we determined whether RT-qPCR of the ETV6-RUNX1 fusion transcript can be a reliable alternative for MRD analysis. Methods Seventy-eight bone marrow samples from 29 children at diagnosis and day 15, 29, and 78 during treatment were analyzed for MRD with FACS and with quantitative reverse transcription polymerase chain reaction (RT-qPCR). Fusion transcript MRD was defined as the ETV6-RUNX1/GUSB ratio at the follow-up time point (day 15/29/78) divided with the ETV6-RUNX1/GUSB ratio at diagnosis (%). Results MRD analysis with FACS and with RT-qPCR of ETV6-RUNX1 fusion transcript showed strong correlation. All cases showed concordant results at the treatment stratifying time points day 29 and day 78, when comparing the two methods with a cutoff set to 0.1%. Conclusion RT-qPCR is a valuable addition and could also be an alternative to FACS in cases where FACS is not achievable for MRD analysis.
- Published
- 2016
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