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Open AccessArticle

Simultaneous Monitoring of Mutation and Chimerism Using Next-Generation Sequencing in Myelodysplastic Syndrome

1
Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea
2
Catholic Genetic Laboratory Center, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea
3
Department of Hematology, Seoul St. Mary’s Hematology Hospital, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea
*
Authors to whom correspondence should be addressed.
J. Clin. Med. 2019, 8(12), 2077; https://doi.org/10.3390/jcm8122077
Received: 23 September 2019 / Revised: 2 November 2019 / Accepted: 21 November 2019 / Published: 28 November 2019
(This article belongs to the Section Hematology)
Monitoring minimal residual disease (MRD) provides important information during treatment of hematologic malignancies. Chimerism analysis also provides key information after allogeneic hematopoietic stem cell transplantation (allo-HSCT). Recent advances in next-generation sequencing (NGS) have enabled identification of various mutations and quantification of mutant allele burden. In this study, we developed a new analytic algorithm to monitor chimerism applicable to NGS multi-gene panel in use to identify mutations of myelodysplastic syndrome (MDS). We enrolled patients who were diagnosed with MDS and received allo-HSCT and their corresponding donors. Monitoring MRD by NGS assay was performed using 53 DNA samples by calculating mutant allele burden after treatment. For monitoring chimerism by NGS, we selected 121 single nucleotide polymorphisms (SNPs) after careful stepwise evaluation and calculated average donor allele burden. Data obtained from NGS were compared with bone marrow findings, chromosome analysis and short tandem repeat (STR)-based chimerism. SNP-based NGS chimerism analysis was accurate and even superior to conventional STR method by overcoming the various technical limitations of STR. In addition, simultaneous monitoring of mutation and chimerism using NGS could implement comprehensive pre- and post-HSCT monitoring of various clinical conditions such as complete donor chimerism, persistent mixed chimerism, early relapse, and even donor cell-derived diseases. View Full-Text
Keywords: chimerism; next-generation sequencing (NGS); short tandem repeat (STR); minimal residual disease (MRD); allogeneic hematopoietic stem cell transplantation (allo-HSCT); myelodysplastic syndrome (MDS) chimerism; next-generation sequencing (NGS); short tandem repeat (STR); minimal residual disease (MRD); allogeneic hematopoietic stem cell transplantation (allo-HSCT); myelodysplastic syndrome (MDS)
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Lee, J.-M.; Kim, Y.-J.; Park, S.-S.; Han, E.; Kim, M.; Kim, Y. Simultaneous Monitoring of Mutation and Chimerism Using Next-Generation Sequencing in Myelodysplastic Syndrome. J. Clin. Med. 2019, 8, 2077.

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