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.

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 ba...

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Publicado en:International Journal of Laboratory Hematology Vol. 39; no. 2; pp. 121 - 129
Autores principales: Alm, S. J., Engvall, C., Asp, J., Palmqvist, L., Abrahamsson, J., Fogelstrand, L.
Formato: research tables/charts Journal Article
Publicado: Wiley-Blackwell Apr2017
Acceso en línea:Ver este registro en EBSCOhost
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        10.1111/ijlh.12593
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        atl: 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.
      aug:
        au:
          Alm, S. J.
          Engvall, C.
          Asp, J.
          Palmqvist, L.
          Abrahamsson, J.
          Fogelstrand, L.
        affil: Department of Clinical Chemistry and Transfusion Medicine, Institute of Biomedicine, Sahlgrenska Academy at University of Gothenburg, Gothenburg Sweden
      sug:
        subj:
          Flow Cytometry
          Leukemia, Lymphocytic Diagnosis
          Disease Surveillance
          Bone Marrow Physiology
          Child
          Human
          Leukemia, Lymphocytic Physiopathology
          Genes
          Genetics
          Medical Organizations
          Pediatrics
          Hematology
          Cell Physiology
          Polymerase Chain Reaction
          Fluorescence Polarization Immunoassay
          Wilcoxon Rank Sum Test
          Data Analysis Software
          Male
          Female
          Funding Source
          Child: 6-12 years
          Male
          Female
      ab: 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.
      pubtype: Academic Journal
      doctype:
        research
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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