Characteristics of Waldenström Macroglobulinemia in Korean Patients According to Mutational Status of MYD88 and CXCR4: Analysis Using Ultra-Deep Sequencing
DC Field | Value | Language |
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dc.contributor.author | Shin, D.W. | - |
dc.contributor.author | Kim, S. | - |
dc.contributor.author | Kim, J. | - |
dc.contributor.author | Park, H.S. | - |
dc.contributor.author | Hwang, S.M. | - |
dc.contributor.author | Im, K. | - |
dc.contributor.author | Kim, S. | - |
dc.contributor.author | Kim, J. | - |
dc.contributor.author | Kwon, S. | - |
dc.contributor.author | Yoon, S.-S. | - |
dc.contributor.author | Lee, D.S. | - |
dc.date.accessioned | 2021-06-18T07:27:24Z | - |
dc.date.available | 2021-06-18T07:27:24Z | - |
dc.date.issued | 2019-08 | - |
dc.identifier.issn | 2152-2650 | - |
dc.identifier.issn | 2152-2669 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/44738 | - |
dc.description.abstract | The frequencies of myeloid differentiation factor 88 (MYD88)/C-X-C chemokine receptor type 4 (CXCR4) mutations and the corresponding clinical characteristics in 31 Korean patients with Waldenström macroglobulinemia were assessed. Ultra-deep sequencing (for CXCR4) and several polymerase chain reaction-based methods (for MYD88) revealed that the frequencies of MYD88/CXCR4 mutations in these Korean patients were similar to reported frequencies for Caucasian individuals. Immunoglobulin M levels and tumor burden were highest in MYD88L265PCXCR4-mutation patients. © 2019 The AuthorsBackground: Little is known about the mutational frequency of myeloid differentiation factor 88 (MYD88) and C-X-C chemokine receptor type 4 (CXCR4) and the corresponding characteristics in Asian individuals afflicted with Waldenström macroglobulinemia (WM). We investigated the characteristics of WM according to mutational status of MYD88/CXCR4, and attempted to determine the lineage commitment among hematopoietic cells by MYD88L265P single-cell sequencing on bone marrow (BM) smear slides. Materials and Methods: CXCR4 mutations (muts) were detected using ultra-deep sequencing using target capture. Mutational burden of MYD88 was assessed using real-time polymerase chain reaction. Single-cell sequencing for MYD88 was performed on lymphocytes, plasmacytoid lymphocytes, plasma cells, and neutrophils using laser microdissection. Results: Among 31 patients, the frequencies of MYD88/CXCR4 muts were as follows: MYD88 wild type (WT) CXCR4WT (6 patients, 19.4%), MYD88L265PCXCR4WT (19 patients, 61.4%), MYD88L265PCXCR4mut (6 patients, 19.4%; 1 frameshift and 5 nonsense muts). Immunoglobulin M levels of MYD88L265CXCR4WT patients were significantly higher than those of MYD88WTCXCR4WT patients (P =.024). Tumor burden in BM was highest in patients with MYD88L265PCXCR4mut (82.0%), followed by MYD88L265PCXCR4WT (52.8%) and MYD88WTCXCR4WT (14.2%) (P <.001). The quantity of MYD88-mutated DNA tended to correlate with tumor burden in BM (correlation coefficient 0.647; P =.009). MYD88L265P was detected in plasma cells, plasmacytoid lymphocytes, and lymphocytes but not neutrophils. Conclusion: The frequency of MYD88/CXCR4 muts in Korean and Caucasian patients with WM was similar, however 5 of the 6 CXCR4 muts were nonsense—a proportion higher than reported frequencies in Caucasian individuals. Ultra-deep sequencing was capable of detecting CXCR4 muts not detectable using Sanger sequencing, suggesting a possible replacement of the B-cell sorting. © 2019 The Authors | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.publisher | Elsevier Inc. | - |
dc.title | Characteristics of Waldenström Macroglobulinemia in Korean Patients According to Mutational Status of MYD88 and CXCR4: Analysis Using Ultra-Deep Sequencing | - |
dc.type | Article | - |
dc.identifier.doi | 10.1016/j.clml.2019.03.009 | - |
dc.identifier.bibliographicCitation | Clinical Lymphoma, Myeloma and Leukemia, v.19, no.8, pp e496 - e505 | - |
dc.description.isOpenAccess | N | - |
dc.identifier.wosid | 000477734400010 | - |
dc.identifier.scopusid | 2-s2.0-85067251731 | - |
dc.citation.endPage | e505 | - |
dc.citation.number | 8 | - |
dc.citation.startPage | e496 | - |
dc.citation.title | Clinical Lymphoma, Myeloma and Leukemia | - |
dc.citation.volume | 19 | - |
dc.type.docType | Article | - |
dc.publisher.location | 미국 | - |
dc.subject.keywordAuthor | CXCR4 | - |
dc.subject.keywordAuthor | MYD88 | - |
dc.subject.keywordAuthor | Single cell analysis | - |
dc.subject.keywordAuthor | Ultra-deep sequencing | - |
dc.subject.keywordAuthor | Waldenström macroglobulinemia | - |
dc.subject.keywordPlus | L265P SOMATIC MUTATION | - |
dc.subject.keywordPlus | PROGRESSION | - |
dc.subject.keywordPlus | IBRUTINIB | - |
dc.subject.keywordPlus | HEALTH | - |
dc.subject.keywordPlus | CELLS | - |
dc.relation.journalResearchArea | Oncology | - |
dc.relation.journalResearchArea | Hematology | - |
dc.relation.journalWebOfScienceCategory | Oncology | - |
dc.relation.journalWebOfScienceCategory | Hematology | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
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