Pub Date : 2022-03-08eCollection Date: 2021-07-01DOI: 10.1097/BS9.0000000000000082
[This corrects the article DOI: 10.1097/BS9.0000000000000039.].
[这更正了文章DOI: 10.1097/BS9.0000000000000039.]。
{"title":"Erratum: RNA editing enzyme ADAR1 is required for early T cell development.","authors":"","doi":"10.1097/BS9.0000000000000082","DOIUrl":"10.1097/BS9.0000000000000082","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1097/BS9.0000000000000039.].</p>","PeriodicalId":67343,"journal":{"name":"血液科学(英文)","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2022-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8974989/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45670080","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-02-23DOI: 10.1097/BS9.0000000000000104
W. Qiang, Hua Jiang, Pei Guo, Jing Lu, Jin Liu, Lu Li, Haiyan He, Xiao Hu, W. Fu, J. Du
Abstract This study compares the efficacy, toxicity, hematopoietic recovery, and cost of stem-cell mobilization using intermediate-dose cyclophosphamide (IDCy) plus granulocyte colony-stimulating factor (G-CSF) compared with etoposide (VP-16) plus pegylated granulocyte colony-stimulating factor (PEG-rhG-CSF) in multiple myeloma (MM) patients. Two hundred forty-four consecutive patients undergoing mobilization with IDCy (3-3.5 g/m2) plus G-CSF (n = 155) were compared with patients receiving VP-16 plus PEG-rhG-CSF (n = 89), including oral etoposide (n = 65) and intravenous etoposide (n = 24). Compared with IDCy, VP-16 use was associated with significantly higher median peak peripheral blood CD34 + cell count (8.20 [range: 1.84-84] × 106/kg vs 4.58 [range: 0.1-27.9] × 106/kg, P = .000), and ideal CD34 + cell yield of more than 6 × 106/kg (56.8% vs 35.1%, P = .001), notably with a higher efficacy in oral VP-16 use compared with IDCy use (CD 34 + cell counts: median peak peripheral blood 5.87 vs 4.58 × 106/kg and ≥6 × 106/kg [48.4% vs 35.1%]). The median number of apheresis courses was reduced from two in the IDCy group to one in the VP-16 group (P = .000). IDCy use was associated with significantly more frequent episodes of neutropenia (70.2% vs 35.2%; P = .000), intravenous antibiotic use (13.2% vs 11.4%; P = .672), and hospitalization (P = .000). The recoveries of neutrophils and platelets after autologous stem-cell transplantation were significantly faster in the VP-16 group compared with the IDCy group (P = .000). Our data indicate robust stem-cell mobilization in MM patients with VP-16 delivered either orally or intravenously. When compared with intravenous VP-16, oral VP-16 mobilization was associated with significantly more convenient, lower average total costs, and especially decreased the risk of hospital visits and exposure.
本研究比较了中剂量环磷酰胺(IDCy)联合粒细胞集落刺激因子(G-CSF)与依托泊苷(VP-16)联合聚乙二醇化粒细胞集落刺激因子(PEG-rhG-CSF)在多发性骨髓瘤(MM)患者中干细胞动员的疗效、毒性、造血恢复和成本。连续224例患者接受IDCy (3-3.5 g/m2) + g - csf (n = 155)与接受VP-16 + PEG-rhG-CSF (n = 89)的患者进行比较，包括口服依托泊苷(n = 65)和静脉注射依托泊苷(n = 24)。与IDCy相比,明显高于VP-16使用平均峰值外周血CD34 +细胞计数(8.20[1.84范围:-84]×106 /公斤与4.58(范围:0.1 - -27.9)×106 /公斤,P =组织),和理想的CD34 +细胞产量超过6×106 /公斤(56.8%比35.1%,P =措施),特别是口头VP-16功效更高使用与IDCy使用(CD + 34细胞计数:峰值外周血中值5.87 vs 4.58×106 /公斤,≥6×106 /公斤(48.4% vs 35.1%))。血浆分离疗程的中位数从IDCy组的2个减少到VP-16组的1个(P = 0.000)。使用IDCy与中性粒细胞减少症发作的频率显著增加相关(70.2% vs 35.2%;P = 0.000)，静脉使用抗生素(13.2% vs 11.4%;P = .672)，住院率(P = .000)。自体干细胞移植后，VP-16组中性粒细胞和血小板恢复明显快于IDCy组(P = 0.000)。我们的数据表明，口服或静脉注射VP-16的MM患者具有强大的干细胞动员。与静脉注射VP-16相比，口服VP-16动员明显更方便，平均总成本更低，特别是降低了医院就诊和暴露的风险。
{"title":"Higher efficacy of oral etoposide for mobilization of peripheral blood stem cells in patients with multiple myeloma","authors":"W. Qiang, Hua Jiang, Pei Guo, Jing Lu, Jin Liu, Lu Li, Haiyan He, Xiao Hu, W. Fu, J. Du","doi":"10.1097/BS9.0000000000000104","DOIUrl":"https://doi.org/10.1097/BS9.0000000000000104","url":null,"abstract":"Abstract This study compares the efficacy, toxicity, hematopoietic recovery, and cost of stem-cell mobilization using intermediate-dose cyclophosphamide (IDCy) plus granulocyte colony-stimulating factor (G-CSF) compared with etoposide (VP-16) plus pegylated granulocyte colony-stimulating factor (PEG-rhG-CSF) in multiple myeloma (MM) patients. Two hundred forty-four consecutive patients undergoing mobilization with IDCy (3-3.5 g/m2) plus G-CSF (n = 155) were compared with patients receiving VP-16 plus PEG-rhG-CSF (n = 89), including oral etoposide (n = 65) and intravenous etoposide (n = 24). Compared with IDCy, VP-16 use was associated with significantly higher median peak peripheral blood CD34 + cell count (8.20 [range: 1.84-84] × 106/kg vs 4.58 [range: 0.1-27.9] × 106/kg, P = .000), and ideal CD34 + cell yield of more than 6 × 106/kg (56.8% vs 35.1%, P = .001), notably with a higher efficacy in oral VP-16 use compared with IDCy use (CD 34 + cell counts: median peak peripheral blood 5.87 vs 4.58 × 106/kg and ≥6 × 106/kg [48.4% vs 35.1%]). The median number of apheresis courses was reduced from two in the IDCy group to one in the VP-16 group (P = .000). IDCy use was associated with significantly more frequent episodes of neutropenia (70.2% vs 35.2%; P = .000), intravenous antibiotic use (13.2% vs 11.4%; P = .672), and hospitalization (P = .000). The recoveries of neutrophils and platelets after autologous stem-cell transplantation were significantly faster in the VP-16 group compared with the IDCy group (P = .000). Our data indicate robust stem-cell mobilization in MM patients with VP-16 delivered either orally or intravenously. When compared with intravenous VP-16, oral VP-16 mobilization was associated with significantly more convenient, lower average total costs, and especially decreased the risk of hospital visits and exposure.","PeriodicalId":67343,"journal":{"name":"血液科学(英文)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46586625","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-02-15eCollection Date: 2022-01-01DOI: 10.1097/BS9.0000000000000096
[This corrects the article DOI: 10.1097/BS9.0000000000000093.].
[此处更正了文章 DOI：10.1097/BS9.0000000000000093]。
{"title":"Erratum: Ultrastructural alterations of megakaryocytes in thrombocytopenia: A review of 43 cases.","authors":"","doi":"10.1097/BS9.0000000000000096","DOIUrl":"10.1097/BS9.0000000000000096","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1097/BS9.0000000000000093.].</p>","PeriodicalId":67343,"journal":{"name":"血液科学(英文)","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2022-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/55/4d/bls-4-47.PMC8845529.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39651523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-02-04eCollection Date: 2022-01-01DOI: 10.1097/BS9.0000000000000102
Haichuan Zhu, Bingjie Dong, Yingchi Zhang, Mei Wang, Jianan Rao, Bowen Cui, Yu Liu, Qian Jiang, Weitao Wang, Lu Yang, Anqi Yu, Zongru Li, Chao Liu, Leping Zhang, Xiaojun Huang, Xiaofan Zhu, Hong Wu
T cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematologic malignancy often associated with poor outcomes. To identify high-risk factors and potential actionable targets for T-ALL, we perform integrated genomic and transcriptomic analyses on samples from 165 Chinese pediatric and adult T-ALL patients, of whom 85% have outcome information. The genomic mutation landscape of this Chinese cohort is very similar to the Western cohort published previously, except that the rate of NOTCH1 mutations is significant lower in the Chinese T-ALL patients. Among 47 recurrently mutated genes in 7 functional categories, we identify RAS pathway and PTEN mutations as poor survival factors for non-TAL and TAL subtypes, respectively. Mutations in the PI3K pathway are mutually exclusive with mutations in the RAS and NOTCH1 pathways as well as transcription factors. Further analysis demonstrates that approximately 43% of the high-risk patients harbor at least one potential actionable alteration identified in this study, and T-ALLs with RAS pathway mutations are hypersensitive to MEKi in vitro and in vivo. Thus, our integrated genomic analyses not only systematically identify high-risk factors but suggest that these high-risk factors are promising targets for T-ALL therapies.
{"title":"Integrated genomic analyses identify high-risk factors and actionable targets in T-cell acute lymphoblastic leukemia.","authors":"Haichuan Zhu, Bingjie Dong, Yingchi Zhang, Mei Wang, Jianan Rao, Bowen Cui, Yu Liu, Qian Jiang, Weitao Wang, Lu Yang, Anqi Yu, Zongru Li, Chao Liu, Leping Zhang, Xiaojun Huang, Xiaofan Zhu, Hong Wu","doi":"10.1097/BS9.0000000000000102","DOIUrl":"10.1097/BS9.0000000000000102","url":null,"abstract":"<p><p>T cell acute lymphoblastic leukemia (T-ALL) is an aggressive hematologic malignancy often associated with poor outcomes. To identify high-risk factors and potential actionable targets for T-ALL, we perform integrated genomic and transcriptomic analyses on samples from 165 Chinese pediatric and adult T-ALL patients, of whom 85% have outcome information. The genomic mutation landscape of this Chinese cohort is very similar to the Western cohort published previously, except that the rate of <i>NOTCH1</i> mutations is significant lower in the Chinese T-ALL patients. Among 47 recurrently mutated genes in 7 functional categories, we identify <i>RAS</i> pathway and <i>PTEN</i> mutations as poor survival factors for non-TAL and TAL subtypes, respectively. Mutations in the <i>PI3K</i> pathway are mutually exclusive with mutations in the <i>RAS</i> and <i>NOTCH1</i> pathways as well as transcription factors. Further analysis demonstrates that approximately 43% of the high-risk patients harbor at least one potential actionable alteration identified in this study, and T-ALLs with <i>RAS</i> pathway mutations are hypersensitive to MEKi in vitro and in vivo. Thus, our integrated genomic analyses not only systematically identify high-risk factors but suggest that these high-risk factors are promising targets for T-ALL therapies.</p>","PeriodicalId":67343,"journal":{"name":"血液科学(英文)","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2022-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8974951/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48694676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-25eCollection Date: 2022-01-01DOI: 10.1097/BS9.0000000000000100
Linzhao Cheng, Bin Guo, Xinxin Huang, Tao Cheng
{"title":"In memory of Hal E. Broxmeyer, a pluripotent scientist, pioneer, and mentor.","authors":"Linzhao Cheng, Bin Guo, Xinxin Huang, Tao Cheng","doi":"10.1097/BS9.0000000000000100","DOIUrl":"10.1097/BS9.0000000000000100","url":null,"abstract":"","PeriodicalId":67343,"journal":{"name":"血液科学(英文)","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2022-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8975008/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45104395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-25eCollection Date: 2022-01-01DOI: 10.1097/BS9.0000000000000103
Xiaochen Wang
The China's top 10 hematological advances in 2021 was announced at the 2nd Annual Meeting of Chinese Alliance for Societies of Hematology on January 16, 2022.
2022年1月16日，中国血液学学会联合会第二届年会上公布了2021年中国血液学十大进展。
{"title":"China's top 10 hematological advances in 2021 lists the key developments in hematology in China for that year.","authors":"Xiaochen Wang","doi":"10.1097/BS9.0000000000000103","DOIUrl":"10.1097/BS9.0000000000000103","url":null,"abstract":"<p><p>The China's top 10 hematological advances in 2021 was announced at the 2<sup>nd</sup> Annual Meeting of Chinese Alliance for Societies of Hematology on January 16, 2022.</p>","PeriodicalId":67343,"journal":{"name":"血液科学(英文)","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2022-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8974939/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45367546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.1097/BS9.0000000000000097
X. Gong, Chunhong Li, Ying Wang, Q. Rao, Y. Mi, Min Wang, H. Wei, Jianxiang Wang
Introduction: Mature plasmacytoid dendritic cells (pDCs) proliferation associated with myeloid neoplasms (MPDMN) are recognized as a neoplasm related to fully differentiated pDCs. Although it has been reported for many years, the genomic landscape of MPDMN is poorly understood. Methods: We reported two patients who developed acute myeloid leukemia (French-American-British M5 subtype) coexisted with immunophenotypically mature pDCs proliferation, which fit the diagnosis of MPDMN. We sorted pDCs from myeloid blasts by flow cytometry and performed whole-exome sequencing and RNA sequencing of the two cell populations, respectively. Results: The immunophenotypes of pDCs in both patients were positive for CD123bri, HLA-DR, CD4, CD303, CD304, and negative for CD56, CD34, CD117, and TdT. The variant allele frequency of gene mutations in myeloid blasts and pDCs were similar. The expression data showed myeloid blasts clustered tightly with hematopoietic stem cells, and pDCs from patients clustered tightly with granulocyte-monocyte progenitors/common myeloid progenitor, rather than with pDCs from the GEO platform. Conclusion: Our study suggested that pDCs derived from the leukemic clone, evidenced by a shared mutation profile and similar transcriptional signatures between pDCs and concurrent myeloid blasts.
{"title":"Mature plasmacytoid dendritic cells associated with acute myeloid leukemia show similar genetic mutations and expression profiles to leukemia cells","authors":"X. Gong, Chunhong Li, Ying Wang, Q. Rao, Y. Mi, Min Wang, H. Wei, Jianxiang Wang","doi":"10.1097/BS9.0000000000000097","DOIUrl":"https://doi.org/10.1097/BS9.0000000000000097","url":null,"abstract":"Introduction: Mature plasmacytoid dendritic cells (pDCs) proliferation associated with myeloid neoplasms (MPDMN) are recognized as a neoplasm related to fully differentiated pDCs. Although it has been reported for many years, the genomic landscape of MPDMN is poorly understood. Methods: We reported two patients who developed acute myeloid leukemia (French-American-British M5 subtype) coexisted with immunophenotypically mature pDCs proliferation, which fit the diagnosis of MPDMN. We sorted pDCs from myeloid blasts by flow cytometry and performed whole-exome sequencing and RNA sequencing of the two cell populations, respectively. Results: The immunophenotypes of pDCs in both patients were positive for CD123bri, HLA-DR, CD4, CD303, CD304, and negative for CD56, CD34, CD117, and TdT. The variant allele frequency of gene mutations in myeloid blasts and pDCs were similar. The expression data showed myeloid blasts clustered tightly with hematopoietic stem cells, and pDCs from patients clustered tightly with granulocyte-monocyte progenitors/common myeloid progenitor, rather than with pDCs from the GEO platform. Conclusion: Our study suggested that pDCs derived from the leukemic clone, evidenced by a shared mutation profile and similar transcriptional signatures between pDCs and concurrent myeloid blasts.","PeriodicalId":67343,"journal":{"name":"血液科学(英文)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46428166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.1097/BS9.0000000000000101
Q. Fang, X. Gong, Yan Li, B. Gong, Yuntao Liu, Kaiqi Liu, Guangji Zhang, Shu-ning Wei, D. Lin, Bing-cheng Liu, Ying Wang, H. Wei, Y. Mi, Jianxiang Wang
To The Editor: The role of measurable residual disease (MRD) in prognosis and treatment in acute myeloid leukemia (AML) is evolving. Studies have demonstrated the correlation between MRD and risks of relapse in adult AML: persistently positive MRD after induction is associated with a high risk of relapse, and these patients should consider allogeneic transplantation (allo-Hematopoietic StemCell Transplantation (HSCT)) and clinical trial, even in favorable-risk groups. However, because of the financial issue or lack of suitable transplant donors, many of the patients could not receive allo-HSCT, so how to prolong the relapse-free survival of these patients remains a challenge. Platzbecker et al treated MRD-positive patients with azacytidine (AZA), and found pre-emptive therapy with AZA can prevent or substantially delay hematological relapse in MRD-positive patients with MDS (myelodysplastic syndrome) or AML who are at a high risk of relapse. What’s more, the application of venetoclax has markedly altered the treatment landscape in AML and provided new opportunities, and preclinical studies have indicated that venetoclax could enhance the activity of anti-leukemic drugs such as HMA (hypomethylating agents), cytarabine, and idarubicin. Moreover, venetoclax with AZA has superior efficacy compared to AZA alone in the treatment of elderly unfit AML patients. Moreover, MRD negative rate after the induction therapy of venetoclax with HMA is much higher (54%–81%) than traditional chemotherapies. Hence, we consider that venetoclax-based regimens could be an efficacious pre-emptive option in patients with persistent MRD positive after induction
{"title":"The impact of venetoclax based regimens in the preemptive of measurable residual disease in acute myeloid leukemia","authors":"Q. Fang, X. Gong, Yan Li, B. Gong, Yuntao Liu, Kaiqi Liu, Guangji Zhang, Shu-ning Wei, D. Lin, Bing-cheng Liu, Ying Wang, H. Wei, Y. Mi, Jianxiang Wang","doi":"10.1097/BS9.0000000000000101","DOIUrl":"https://doi.org/10.1097/BS9.0000000000000101","url":null,"abstract":"To The Editor: The role of measurable residual disease (MRD) in prognosis and treatment in acute myeloid leukemia (AML) is evolving. Studies have demonstrated the correlation between MRD and risks of relapse in adult AML: persistently positive MRD after induction is associated with a high risk of relapse, and these patients should consider allogeneic transplantation (allo-Hematopoietic StemCell Transplantation (HSCT)) and clinical trial, even in favorable-risk groups. However, because of the financial issue or lack of suitable transplant donors, many of the patients could not receive allo-HSCT, so how to prolong the relapse-free survival of these patients remains a challenge. Platzbecker et al treated MRD-positive patients with azacytidine (AZA), and found pre-emptive therapy with AZA can prevent or substantially delay hematological relapse in MRD-positive patients with MDS (myelodysplastic syndrome) or AML who are at a high risk of relapse. What’s more, the application of venetoclax has markedly altered the treatment landscape in AML and provided new opportunities, and preclinical studies have indicated that venetoclax could enhance the activity of anti-leukemic drugs such as HMA (hypomethylating agents), cytarabine, and idarubicin. Moreover, venetoclax with AZA has superior efficacy compared to AZA alone in the treatment of elderly unfit AML patients. Moreover, MRD negative rate after the induction therapy of venetoclax with HMA is much higher (54%–81%) than traditional chemotherapies. Hence, we consider that venetoclax-based regimens could be an efficacious pre-emptive option in patients with persistent MRD positive after induction","PeriodicalId":67343,"journal":{"name":"血液科学(英文)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43844304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-12-06DOI: 10.1097/BS9.0000000000000098
Ruixia Sun, Ping Zhu
Abstract DNA methylation is one of the most important components of epigenetics, which plays essential roles in maintaining genome stability and regulating gene expression. In recent years, DNA methylation measuring methods have been continuously optimized. Combined with next generation sequencing technologies, these approaches have enabled the detection of genome-wide cytosine methylation at single-base resolution. In this paper, we review the development of 5-methylcytosine and its oxidized derivatives measuring methods, and recent advancement of single-cell epigenome sequencing technologies, offering more referable information for the selection and optimization of DNA methylation sequencing technologies and related research.
{"title":"Advances in measuring DNA methylation","authors":"Ruixia Sun, Ping Zhu","doi":"10.1097/BS9.0000000000000098","DOIUrl":"https://doi.org/10.1097/BS9.0000000000000098","url":null,"abstract":"Abstract DNA methylation is one of the most important components of epigenetics, which plays essential roles in maintaining genome stability and regulating gene expression. In recent years, DNA methylation measuring methods have been continuously optimized. Combined with next generation sequencing technologies, these approaches have enabled the detection of genome-wide cytosine methylation at single-base resolution. In this paper, we review the development of 5-methylcytosine and its oxidized derivatives measuring methods, and recent advancement of single-cell epigenome sequencing technologies, offering more referable information for the selection and optimization of DNA methylation sequencing technologies and related research.","PeriodicalId":67343,"journal":{"name":"血液科学(英文)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47180771","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-12-06DOI: 10.1097/BS9.0000000000000099
Hongfei Wu, Xiang Ren, M. Ge, Peiyuan Dong, Shichong Wang, Hui-ming Yi, Xingxin Li, J. Huo, Xuan Zheng, Mengying Gao, Jin-bo Huang, Jing Zhang, Min Wang, P. Jin, N. Nie, Y. Shao, Yizhou Zheng
Abstract Variants in the solute carrier family 40 member 1 (SLC40A1) gene are the molecular basis of ferroportin disease, which is an autosomal dominant hereditary hemochromatosis. Here, we present a patient with pure red cell aplasia (PRCA) and large granular lymphocytic leukemia (LGLL) associated with an extremely high levels of serum ferritin and iron overload syndrome. Whole exon sequencing revealed a novel heterozygous variant in SLC40A1 (p.T419I), which was found in his daughter as well. A series of functional studies in vitro of the T419I variant in ferroportin were conducted and the results revealed a reduced capacity of iron export from cells without changes in protein localization and its sensitivity to hepcidin. Intracellular iron storage in mutated cells was significantly higher than that of wild-type. These findings suggest that the novel variant p.T419I can cause the classical form of ferroportin disease and an elevated intracellular iron level indicates a potential novel pathogenic mechanism underlying PRCA and LGLL.
{"title":"The novel SLC40A1 (T419I) variant results in a loss-of-function phenotype and may provide insights into the mechanism of large granular lymphocytic leukemia and pure red cell aplasia","authors":"Hongfei Wu, Xiang Ren, M. Ge, Peiyuan Dong, Shichong Wang, Hui-ming Yi, Xingxin Li, J. Huo, Xuan Zheng, Mengying Gao, Jin-bo Huang, Jing Zhang, Min Wang, P. Jin, N. Nie, Y. Shao, Yizhou Zheng","doi":"10.1097/BS9.0000000000000099","DOIUrl":"https://doi.org/10.1097/BS9.0000000000000099","url":null,"abstract":"Abstract Variants in the solute carrier family 40 member 1 (SLC40A1) gene are the molecular basis of ferroportin disease, which is an autosomal dominant hereditary hemochromatosis. Here, we present a patient with pure red cell aplasia (PRCA) and large granular lymphocytic leukemia (LGLL) associated with an extremely high levels of serum ferritin and iron overload syndrome. Whole exon sequencing revealed a novel heterozygous variant in SLC40A1 (p.T419I), which was found in his daughter as well. A series of functional studies in vitro of the T419I variant in ferroportin were conducted and the results revealed a reduced capacity of iron export from cells without changes in protein localization and its sensitivity to hepcidin. Intracellular iron storage in mutated cells was significantly higher than that of wild-type. These findings suggest that the novel variant p.T419I can cause the classical form of ferroportin disease and an elevated intracellular iron level indicates a potential novel pathogenic mechanism underlying PRCA and LGLL.","PeriodicalId":67343,"journal":{"name":"血液科学(英文)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45910598","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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