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Detection of Immunoglobulin Heavy Chain Gene Clonality by Next-Generation Sequencing for Minimal Residual Disease Monitoring in B-Lymphoblastic Leukemia

 Saeam Shin  ;  In Sik Hwang  ;  Jieun Kim  ;  Kyung-A Lee  ;  Seung-Tae Lee  ;  Jong Rak Choi 
 Annals of Laboratory Medicine, Vol.37(4) : 331-335, 2017 
Journal Title
 Annals of Laboratory Medicine 
Issue Date
B-lymphoblastic leukemia ; Immunoglobulin heavy chain gene rearrangement ; Minimal residual disease ; Next-generation sequencing
Minimal residual disease (MRD) following B-lymphoblastic leukemia (B-ALL) treatment has gained prognostic importance. Clonal immunoglobulin heavy chain (IGH) gene rearrangement is a useful follow-up marker in B-ALL owing to its high positivity rate. We evaluated the performance and clinical applicability of a next-generation sequencing (NGS) assay for IGH rearrangement in B-ALL MRD monitoring. IGH rearrangement was tested by using fluorescence PCR-fragment analysis and the NGS assay in eight B-ALL patients. The NGS assay was run on two platforms: the Ion Torrent PGM (Thermo Fisher Scientific, USA) (18 samples from 1st to 7th patients) and the MiSeq system (Illumina, USA) (four samples from 8th patient). All initial diagnostic samples and four follow-up samples were positive for clonal IGH rearrangement with fluorescence PCR-fragment analysis and the NGS assay, and six follow-up samples were positive only with NGS. In one case with BCR-ABL1 translocation, BCR-ABL1 quantitative PCR was negative but the NGS IGH assay was positive just prior to full-blown relapse, suggesting the high sensitivity and clinical utility of the NGS assay. The NGS assay is proposed for MRD monitoring in B-ALL Additional studies are needed to confirm the clinical implications of cases showing positive results only in NGS.
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1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Yonsei Biomedical Research Center (연세의생명연구원) > 1. Journal Papers
Yonsei Authors
김지은(Kim, Jieun)
신새암(Shin, Saeam) ORCID logo https://orcid.org/0000-0003-1501-3923
이경아(Lee, Kyung A) ORCID logo https://orcid.org/0000-0001-5320-6705
이승태(Lee, Seung-Tae) ORCID logo https://orcid.org/0000-0003-1047-1415
최종락(Choi, Jong Rak) ORCID logo https://orcid.org/0000-0002-0608-2989
황인식(Hwang, In Sik)
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