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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.

Artikel i vetenskaplig tidskrift
Författare Sofie J. Alm
C Engvall
Julia Asp
Lars Palmqvist
Jonas Abrahamsson
Linda Fogelstrand
Publicerad i International journal of laboratory hematology
Volym 39
Nummer/häfte 2
Sidor 121-128
ISSN 1751-553X
Publiceringsår 2017
Publicerad vid Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin
Sidor 121-128
Språk en
Länkar dx.doi.org/10.1111/ijlh.12593
www.ncbi.nlm.nih.gov/entrez/query.f...
Ämnesord Adolescent, Child, Child, Preschool, Chromosomes, Human, Pair 12, Chromosomes, Human, Pair 21, Core Binding Factor Alpha 2 Subunit, genetics, Flow Cytometry, standards, Humans, Neoplasm, Residual, diagnosis, genetics, Oncogene Proteins, Fusion, genetics, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, diagnosis, genetics, RNA, Neoplasm, analysis, Reverse Transcriptase Polymerase Chain Reaction, standards, Translocation, Genetic
Ämneskategorier Klinisk laboratoriemedicin, Hematologi

Sammanfattning

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.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 (%).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%.RT-qPCR is a valuable addition and could also be an alternative to FACS in cases where FACS is not achievable for MRD analysis.

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