Detection of Immunoglobulin Heavy Chain Gene Clonality by Next-Generation Sequencing for Minimal Residual Disease Monitoring in B-Lymphoblastic Leukemia.
10.3343/alm.2017.37.4.331
- Author:
Saeam SHIN
1
;
In Sik HWANG
;
Jieun KIM
;
Kyung A LEE
;
Seung Tae LEE
;
Jong Rak CHOI
Author Information
1. Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea. LEE.ST@yuhs.ac CJR0606@yuhs.ac
- Publication Type:Brief Communication
- Keywords:
Immunoglobulin heavy chain gene rearrangement;
Minimal residual disease;
B-lymphoblastic leukemia;
Next-generation sequencing
- MeSH:
Fluorescence;
Follow-Up Studies;
Gene Rearrangement;
Humans;
Immunoglobulin Heavy Chains*;
Immunoglobulins*;
Leukemia*;
Neoplasm, Residual*;
Polymerase Chain Reaction;
Recurrence
- From:Annals of Laboratory Medicine
2017;37(4):331-335
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
