Pub Date : 2020-01-20DOI: 10.3760/CMA.J.ISSN.1673-419X.2020.01.015
Yi Yang
Phosphoribosyl pyrophosphate synthetase (PRS) 1, encoded by PRPS1 gene, is the first limiting enzyme participating in the synthetic process of nucleic acids. Consequently, it has a great effect on cell functions, especially the synthesis and metabolism of purine and pyrimidine. Some changes in PRS1 crystal structure might exert inconceivable effects on enzyme activity and lead to disorder of purine/pyrimidine metabolism, even cellular energy metabolism failure. Inherited mutation may induce disfunction of some energy-intensive tissue, the common clinical manifestations are some clinical syndrome. In addition, PRPS1 mutations found in cancer are proved to be an important cause of tumor resistance, followed by patient relapse. In a word, PRS1 plays a key role in energy metabolism, signal transduction and nucleic acid synthesis, which is of great significance in maintaining physiological activities. This article mainly focuses on the physiological functions and crystal structure of PRS1, the regulation of cell metabolism by PRPS1 gene and its mutations, as well as clinical syndromes related to PRPS1 gene mutation. Key words: Phosphoribosyl pyrophosphate; Syndrome; Metabolism; Phosphoribosyl pyrophosphate synthetase; PRPS1 gene
{"title":"Research progress of PRPS1 gene and its mutations and related clinical syndrome","authors":"Yi Yang","doi":"10.3760/CMA.J.ISSN.1673-419X.2020.01.015","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1673-419X.2020.01.015","url":null,"abstract":"Phosphoribosyl pyrophosphate synthetase (PRS) 1, encoded by PRPS1 gene, is the first limiting enzyme participating in the synthetic process of nucleic acids. Consequently, it has a great effect on cell functions, especially the synthesis and metabolism of purine and pyrimidine. Some changes in PRS1 crystal structure might exert inconceivable effects on enzyme activity and lead to disorder of purine/pyrimidine metabolism, even cellular energy metabolism failure. Inherited mutation may induce disfunction of some energy-intensive tissue, the common clinical manifestations are some clinical syndrome. In addition, PRPS1 mutations found in cancer are proved to be an important cause of tumor resistance, followed by patient relapse. In a word, PRS1 plays a key role in energy metabolism, signal transduction and nucleic acid synthesis, which is of great significance in maintaining physiological activities. This article mainly focuses on the physiological functions and crystal structure of PRS1, the regulation of cell metabolism by PRPS1 gene and its mutations, as well as clinical syndromes related to PRPS1 gene mutation. \u0000 \u0000 \u0000Key words: \u0000Phosphoribosyl pyrophosphate; Syndrome; Metabolism; Phosphoribosyl pyrophosphate synthetase; PRPS1 gene","PeriodicalId":13774,"journal":{"name":"International Journal of Blood Transfusion and Hematology","volume":"43 1","pages":"82-88"},"PeriodicalIF":0.0,"publicationDate":"2020-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41990236","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 : 2020-01-20DOI: 10.3760/CMA.J.ISSN.1673-419X.2020.01.008
Yuan Xia, G. Gao, Yongjin Zhi, Zhengdong Wu
Objective To investigate the pathogenesis and clinical characteristics of familial leukemia. Methods In October 2012 and December 2018, 2 patients with acute leukemia(AL) admitted to the Department of Hematology, Taizhou People′s Hospital were included in this study. Two patients were 34 and 65 years old, respectively. Routine blood examination, bone marrow cell morphology examination, chromosome karyotype analysis, leukemia cell immunotyping, minimal residual disease (MRD) detection and fusion gene detection were performed on the 2 patients. The clinical features, diagnosis and treatment of the patients were analyzed retrospectively. The procedure of this study is accordance with the requirement of the revised World Medical Association Declaration of Helsinki in 2013. Results ① Case 1 (the son) was admitted to the Department of Hematology, Taizhou People′s Hospital on October 23, 2012, due to " dizziness, fatigue, and sleep hyperhidrosis for 3 months" . After admission, the result of bone marrow cell morphology revealed hyper-cellularity with 38.5% of lymphoblasts and prolymphocytes, and immunophenotype analysis of leukemia blasts showed that the neoplastic cells were positive for CD34, human leukocyte antigen (HLA) -DR, CD10, CD20 and CD19. No abnormal karyotype was observed in cytogenetic analysis. The patient was diagnosed with B-cell lymphoma/leukemia. Subsequently, 4 cycles of R+ hyper-CVAD (rituximab+ cyclophosphamide+ vindesine+ epirubicin+ dexamethasone)/R+ MA (rituximab+ methotrexate+ cytarabine) chemotherapy were performed, combined with 8 intrathecal injections (methotrexate combined with dexamethasone or cytarabine). Bone marrow cell morphology revealed complete remission (CR), and MRD were negative during this period of time. On April 26, 2013, autologous hematopoietic stem cell transplantation (auto-HSCT) was performed, and rituximab was used for consolidation treatment twice since then. On November 8, 2013, the result of bone marrow cell morphology reported hypercellularity with 35.0% lymphoma cells, which indicated relapse of the disease. The patient achieved CR again after VDCLP (vindazine+ daunorubicin+ cyclophosphamide+ papeurase+ prednisone) and CA (cyclophosphamide+ cytarabine) chemotherapy, but still relapsed. On March 12, 2014, the patient received haploid hematopoietic stem cell transplantation (haplo-HSCT) and then achieved CR. On April 3, 2015, the result of bone marrow cell morphology showed obviously proliferation of karyote cells with 22.0% of prolymphocyte, and immunophenotype of leukemia blasts was positive for CD34, CD22, CD19, CD33 and HLA-DR. No abnormal karyotype was observed in cytogenetic analysis. These findings led to the diagnosis of B-cell acute lymphocytic leukemia (B-ALL). The patient was then given salvage treatment of decitabine combined with VLP (vintelide+ pemetrex+ dexamethasone) chemotherapy, and CR was achieved with the MRD ratio of 0.13%. Multiple regimens of chemotherapy were given
{"title":"Clinical analysis of father and son both with acute leukemia and father with triple primary malignancies","authors":"Yuan Xia, G. Gao, Yongjin Zhi, Zhengdong Wu","doi":"10.3760/CMA.J.ISSN.1673-419X.2020.01.008","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1673-419X.2020.01.008","url":null,"abstract":"Objective \u0000To investigate the pathogenesis and clinical characteristics of familial leukemia. \u0000 \u0000 \u0000Methods \u0000In October 2012 and December 2018, 2 patients with acute leukemia(AL) admitted to the Department of Hematology, Taizhou People′s Hospital were included in this study. Two patients were 34 and 65 years old, respectively. Routine blood examination, bone marrow cell morphology examination, chromosome karyotype analysis, leukemia cell immunotyping, minimal residual disease (MRD) detection and fusion gene detection were performed on the 2 patients. The clinical features, diagnosis and treatment of the patients were analyzed retrospectively. The procedure of this study is accordance with the requirement of the revised World Medical Association Declaration of Helsinki in 2013. \u0000 \u0000 \u0000Results \u0000① Case 1 (the son) was admitted to the Department of Hematology, Taizhou People′s Hospital on October 23, 2012, due to \" dizziness, fatigue, and sleep hyperhidrosis for 3 months\" . After admission, the result of bone marrow cell morphology revealed hyper-cellularity with 38.5% of lymphoblasts and prolymphocytes, and immunophenotype analysis of leukemia blasts showed that the neoplastic cells were positive for CD34, human leukocyte antigen (HLA) -DR, CD10, CD20 and CD19. No abnormal karyotype was observed in cytogenetic analysis. The patient was diagnosed with B-cell lymphoma/leukemia. Subsequently, 4 cycles of R+ hyper-CVAD (rituximab+ cyclophosphamide+ vindesine+ epirubicin+ dexamethasone)/R+ MA (rituximab+ methotrexate+ cytarabine) chemotherapy were performed, combined with 8 intrathecal injections (methotrexate combined with dexamethasone or cytarabine). Bone marrow cell morphology revealed complete remission (CR), and MRD were negative during this period of time. On April 26, 2013, autologous hematopoietic stem cell transplantation (auto-HSCT) was performed, and rituximab was used for consolidation treatment twice since then. On November 8, 2013, the result of bone marrow cell morphology reported hypercellularity with 35.0% lymphoma cells, which indicated relapse of the disease. The patient achieved CR again after VDCLP (vindazine+ daunorubicin+ cyclophosphamide+ papeurase+ prednisone) and CA (cyclophosphamide+ cytarabine) chemotherapy, but still relapsed. On March 12, 2014, the patient received haploid hematopoietic stem cell transplantation (haplo-HSCT) and then achieved CR. On April 3, 2015, the result of bone marrow cell morphology showed obviously proliferation of karyote cells with 22.0% of prolymphocyte, and immunophenotype of leukemia blasts was positive for CD34, CD22, CD19, CD33 and HLA-DR. No abnormal karyotype was observed in cytogenetic analysis. These findings led to the diagnosis of B-cell acute lymphocytic leukemia (B-ALL). The patient was then given salvage treatment of decitabine combined with VLP (vintelide+ pemetrex+ dexamethasone) chemotherapy, and CR was achieved with the MRD ratio of 0.13%. Multiple regimens of chemotherapy were given","PeriodicalId":13774,"journal":{"name":"International Journal of Blood Transfusion and Hematology","volume":"43 1","pages":"43-50"},"PeriodicalIF":0.0,"publicationDate":"2020-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46727616","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 : 2020-01-20DOI: 10.3760/CMA.J.ISSN.1673-419X.2020.01.003
Zehui Chen, Yueyang Li
Acute lymphoblastic leukemia (ALL) is a hematological malignant disease originated from B or T cells. The occurrence and development of ALL are related to the bone marrow microenvironment, which is a complex network system, including osteoblasts, stromal cells, mesenchymal stem cells (MSC), adipose cells, macrophages and regulatory T cells (Treg). The abnormal bone marrow microenvironment formed by the changes of biological characteristics of these cells provides a suitable space for the growth and proliferation of ALL cells. To explore the effect of abnormal bone marrow microenvironment on the occurrence and development of ALL, this review summarizes the advances in the abnormal bone marrow microenvironment of patients with ALL, and interaction between the various related cells and ALL cells. Key words: Leukemia; Tumor microenvironment; Bone marrow cells; Stem cell niche; Acute lymphoblastic leukemia; Abnormal bone marrow microenvironment
{"title":"Research status of bone marrow microenvironment in patients with acute lymphoblastic leukemia","authors":"Zehui Chen, Yueyang Li","doi":"10.3760/CMA.J.ISSN.1673-419X.2020.01.003","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1673-419X.2020.01.003","url":null,"abstract":"Acute lymphoblastic leukemia (ALL) is a hematological malignant disease originated from B or T cells. The occurrence and development of ALL are related to the bone marrow microenvironment, which is a complex network system, including osteoblasts, stromal cells, mesenchymal stem cells (MSC), adipose cells, macrophages and regulatory T cells (Treg). The abnormal bone marrow microenvironment formed by the changes of biological characteristics of these cells provides a suitable space for the growth and proliferation of ALL cells. To explore the effect of abnormal bone marrow microenvironment on the occurrence and development of ALL, this review summarizes the advances in the abnormal bone marrow microenvironment of patients with ALL, and interaction between the various related cells and ALL cells. \u0000 \u0000 \u0000Key words: \u0000Leukemia; Tumor microenvironment; Bone marrow cells; Stem cell niche; Acute lymphoblastic leukemia; Abnormal bone marrow microenvironment","PeriodicalId":13774,"journal":{"name":"International Journal of Blood Transfusion and Hematology","volume":"43 1","pages":"12-16"},"PeriodicalIF":0.0,"publicationDate":"2020-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42971746","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 : 2020-01-20DOI: 10.3760/CMA.J.ISSN.1673-419X.2020.01.011
Kun Chen, Jianchun Xiao, L. Pan
Objective To explore the clinical characteristics, diagnosis and treatment of abnormal fibrinogenemia. Methods On July 30, 2018, one case of patient with abnormal fibrinogenemia who was admitted at First People′s Hospital of Zigong was selected as the research subject. The patient was female, and 52 years old. The tests of pure tone audiometry, coagulation function were performed in this patient. And FGA, FGB and FGG genes of patients were sequenced. Patient was diagnosed and treated based on her clinical manifestations, laboratory test results. Follow-up was conducted until August 2019. Retrospective analysis method was used to collect the clinical data of this patient, and to analyze her clinical manifestations, diagnosis and treatment process. In addition, China National Knowledge Infrastructure database, Wanfang Data Knowledge Service Platform, PubMed database were searched for the same case reports as the patient′s genetic mutation. The retrieval time is from the database inception to December 31, 2018. This article summarizes types of genetic mutations related to this patient with abnormal fibrinogenemia, patients′ bleeding and thrombotic symptoms, and so on. This study meets the requirements of the World Medical Association Declaration of Helsinki revised in 2013. Results ① On July 30, 2018, the patient was admitted to Department of Otorhinolaryngology of First People′s Hospital of Zigong due to " left hearing loss for 1+ months" . The patient complained of tinnitus, dizziness, low back pain, no oral cavity and gingival bleeding, no subcutaneous petechiae and ecchymosis, no hemoptysis, no abdominal pain and diarrhea, no black stools, etc.. The patient was in good health, and there was no history of bleeding and thrombosis in the first and second degree relatives of the family. ② After the patient was admitted, pure tone audiometry showed that moderate-severe sensorineural hearing loss of the left ear. Results of coagulation function test showed that prothrombin time (PT) was 11.3 s, activated partial thromboplastin time (APTT) was 23.4 s, thrombin time (TT) was 48.4 s, and fibrinogen value was 0.31 g/L. ③ Sequencing results of the FGA gene of this patient showed that c. 104G>A (p.Arg35His) missense mutation in exon 2 and c. 16A>G (p.Ile6Val) missense mutation in exon 1, and all were heterozygous mutations. ④ The patient was diagnosed with abnormal fibrinogenemia and left sensorineural hearing loss. Given that the patient and family members had no history of bleeding and thrombotic diseases, the patient had no oral and gum bleeding; no subcutaneous petechiae, ecchymosis, hematemesis, hemoptysis; no bleeding tendency such as melena, the patient was not given special treatment such as fibrinogen infusion, but only clinical observation. At end of follow-up, general condition of the patient was good. ⑤ The results of literature review showed that patients of abnormal fibrinogenemia with c. 104G>A (p.Arg35His) heterozygous mutation
{"title":"One case of abnormal fibrinogenemia and literature review","authors":"Kun Chen, Jianchun Xiao, L. Pan","doi":"10.3760/CMA.J.ISSN.1673-419X.2020.01.011","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1673-419X.2020.01.011","url":null,"abstract":"Objective \u0000To explore the clinical characteristics, diagnosis and treatment of abnormal fibrinogenemia. \u0000 \u0000 \u0000Methods \u0000On July 30, 2018, one case of patient with abnormal fibrinogenemia who was admitted at First People′s Hospital of Zigong was selected as the research subject. The patient was female, and 52 years old. The tests of pure tone audiometry, coagulation function were performed in this patient. And FGA, FGB and FGG genes of patients were sequenced. Patient was diagnosed and treated based on her clinical manifestations, laboratory test results. Follow-up was conducted until August 2019. Retrospective analysis method was used to collect the clinical data of this patient, and to analyze her clinical manifestations, diagnosis and treatment process. In addition, China National Knowledge Infrastructure database, Wanfang Data Knowledge Service Platform, PubMed database were searched for the same case reports as the patient′s genetic mutation. The retrieval time is from the database inception to December 31, 2018. This article summarizes types of genetic mutations related to this patient with abnormal fibrinogenemia, patients′ bleeding and thrombotic symptoms, and so on. This study meets the requirements of the World Medical Association Declaration of Helsinki revised in 2013. \u0000 \u0000 \u0000Results \u0000① On July 30, 2018, the patient was admitted to Department of Otorhinolaryngology of First People′s Hospital of Zigong due to \" left hearing loss for 1+ months\" . The patient complained of tinnitus, dizziness, low back pain, no oral cavity and gingival bleeding, no subcutaneous petechiae and ecchymosis, no hemoptysis, no abdominal pain and diarrhea, no black stools, etc.. The patient was in good health, and there was no history of bleeding and thrombosis in the first and second degree relatives of the family. ② After the patient was admitted, pure tone audiometry showed that moderate-severe sensorineural hearing loss of the left ear. Results of coagulation function test showed that prothrombin time (PT) was 11.3 s, activated partial thromboplastin time (APTT) was 23.4 s, thrombin time (TT) was 48.4 s, and fibrinogen value was 0.31 g/L. ③ Sequencing results of the FGA gene of this patient showed that c. 104G>A (p.Arg35His) missense mutation in exon 2 and c. 16A>G (p.Ile6Val) missense mutation in exon 1, and all were heterozygous mutations. ④ The patient was diagnosed with abnormal fibrinogenemia and left sensorineural hearing loss. Given that the patient and family members had no history of bleeding and thrombotic diseases, the patient had no oral and gum bleeding; no subcutaneous petechiae, ecchymosis, hematemesis, hemoptysis; no bleeding tendency such as melena, the patient was not given special treatment such as fibrinogen infusion, but only clinical observation. At end of follow-up, general condition of the patient was good. ⑤ The results of literature review showed that patients of abnormal fibrinogenemia with c. 104G>A (p.Arg35His) heterozygous mutation ","PeriodicalId":13774,"journal":{"name":"International Journal of Blood Transfusion and Hematology","volume":"43 1","pages":"62-66"},"PeriodicalIF":0.0,"publicationDate":"2020-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47219762","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 : 2020-01-20DOI: 10.3760/CMA.J.ISSN.1673-419X.2020.01.004
Yun Wang, Xiao-feng Shi, J. Mao, Bing Xiao, Z. Ruan, Yichen Liu, Guowei Zhang, Jin Wang
Gene therapy can correct the coagulation disorder permanently which can be a promising alternative for hemophilia A (HA) patients. There could be different targeted cells of human for gene therapy of HA. To solve some questions of hepatocyte-targeted gene therapy, platelet-targeted gene therapy with the FⅧ expression restricted in platelets has been developed in recent years. Platelet-targeted gene therapy strategy has been developed, in which FⅧ expression is driven by various platelet-specific promoters such as platelet glycoprotein alpha Ⅱb promoter, glycoprotein Ⅰb promoter and platelet factor-4 promoter. This gene therapy strategy has been proved to have advantages in many ways. Firstly, a substantial amount of FⅧ had potent effects to promote hemostasis and activate coagulation, which were accumulated at the sites of injury or bleeding. Then, FⅧ is stored in the alpha-granules of platelets, which greatly reduces the exposure time of FⅧ in the blood circulation, reduces the production of autoantibodies and the opportunity for FⅧ and autoantibodies. This review summarizes studies on platelet-specific gene therapy for HA in recent years. Key words: Hemophilia A; Genetic therapy; Platelet targeted; FⅧ ectopic expression; Platelet activation
{"title":"Research advances on platelet-targeted gene therapy for hemophilia A","authors":"Yun Wang, Xiao-feng Shi, J. Mao, Bing Xiao, Z. Ruan, Yichen Liu, Guowei Zhang, Jin Wang","doi":"10.3760/CMA.J.ISSN.1673-419X.2020.01.004","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1673-419X.2020.01.004","url":null,"abstract":"Gene therapy can correct the coagulation disorder permanently which can be a promising alternative for hemophilia A (HA) patients. There could be different targeted cells of human for gene therapy of HA. To solve some questions of hepatocyte-targeted gene therapy, platelet-targeted gene therapy with the FⅧ expression restricted in platelets has been developed in recent years. Platelet-targeted gene therapy strategy has been developed, in which FⅧ expression is driven by various platelet-specific promoters such as platelet glycoprotein alpha Ⅱb promoter, glycoprotein Ⅰb promoter and platelet factor-4 promoter. This gene therapy strategy has been proved to have advantages in many ways. Firstly, a substantial amount of FⅧ had potent effects to promote hemostasis and activate coagulation, which were accumulated at the sites of injury or bleeding. Then, FⅧ is stored in the alpha-granules of platelets, which greatly reduces the exposure time of FⅧ in the blood circulation, reduces the production of autoantibodies and the opportunity for FⅧ and autoantibodies. This review summarizes studies on platelet-specific gene therapy for HA in recent years. \u0000 \u0000 \u0000Key words: \u0000Hemophilia A; Genetic therapy; Platelet targeted; FⅧ ectopic expression; Platelet activation","PeriodicalId":13774,"journal":{"name":"International Journal of Blood Transfusion and Hematology","volume":"43 1","pages":"17-22"},"PeriodicalIF":0.0,"publicationDate":"2020-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47877101","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 : 2020-01-20DOI: 10.3760/CMA.J.ISSN.1673-419X.2020.01.010
Min Kou, Tao Wu, Ying Han, F. Xue, D. Mao, Yaozhu Pan, Cun-bang Wang
Objective To explore the treatment of acute promyelocytic leukemia (APL), and the management of retinoic acid syndrome (RAS) during treatment of APL. Methods On December 28, 2018, one case of APL patient with complex karyotype complicated by RAS who was admitted to the Hematological Disease Center of Lanzhou General Hospital, was selected as the subject. By retrospective analysis, the clinical data of this patient were collected, and the clinical manifestations, diagnosis and treatment process were analyzed. Induction chemotherapy of all-trans retinoic acid (ATRA) combined with arsenic trioxide (ATO) was used to treat APL: ATRA 20 mg/time, twice a day, oral, d1-28; ATO 10 mL/d, intravenous injection, d1-14. The RAS treatment regimen was to reduce or discontinue ATRA or ATO, and intravenous injected dexamethasone 10 mg/time, twice a day as soon as possible until hypoxemia is relieved. When patient′s white blood cell count (WBC)>10×109/L and continuously elevated, anthracycline or cytarabine was administrated as appropriate. The procedure followed in this study were in accordance with the requirements of the World Medical Association Declaration of Helsinki revised in 2013. And this patient signed the informed consents for clinical trials. Results On January 1, 2019, the patient was diagnosed as APL, with PML-RARα (Bcr1 type) positive, complex karyotype and intermediate risk group, based on complete results of relevant laboratory and auxiliary examination. This patient achieved good efficacy after treatment of ATRA+ ATO regimen. After treatment with ATRA, the patient presented fever, respiratory failure, pleural effusion, and increased WBC, etc.. Then RAS was considered. After treatment with dexamethasone, pirarubicin and symptomatic treatment, the patient′s clinical symptoms of RAS were significantly improved. As of February 2019, the patient was generally in good condition and was currently being followed up regularly. Conclusions ATRA+ ATO regimen has a good efficacy in treatment of APL. When RAS appears during the treatment, glucocorticoids and corresponding treatment should be actively used. Since only one patient was retrospectively analyzed in this study, the exact efficacy of APL and RAS needs further verification by expanding the study sample size. Key words: Leukemia, promyelocytic, acute; Tretinoin; Arsenicals; Acute promyelocytic leukemia; Retinoic acid syndrome; PML-RAR;ATRA; ATO; Dexamethasone; Retrospective studies
{"title":"Acute promyelocytic leukemia with complex karyotype complicated by retinoic acid syndrome during treatment: one case report","authors":"Min Kou, Tao Wu, Ying Han, F. Xue, D. Mao, Yaozhu Pan, Cun-bang Wang","doi":"10.3760/CMA.J.ISSN.1673-419X.2020.01.010","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1673-419X.2020.01.010","url":null,"abstract":"Objective \u0000To explore the treatment of acute promyelocytic leukemia (APL), and the management of retinoic acid syndrome (RAS) during treatment of APL. \u0000 \u0000 \u0000Methods \u0000On December 28, 2018, one case of APL patient with complex karyotype complicated by RAS who was admitted to the Hematological Disease Center of Lanzhou General Hospital, was selected as the subject. By retrospective analysis, the clinical data of this patient were collected, and the clinical manifestations, diagnosis and treatment process were analyzed. Induction chemotherapy of all-trans retinoic acid (ATRA) combined with arsenic trioxide (ATO) was used to treat APL: ATRA 20 mg/time, twice a day, oral, d1-28; ATO 10 mL/d, intravenous injection, d1-14. The RAS treatment regimen was to reduce or discontinue ATRA or ATO, and intravenous injected dexamethasone 10 mg/time, twice a day as soon as possible until hypoxemia is relieved. When patient′s white blood cell count (WBC)>10×109/L and continuously elevated, anthracycline or cytarabine was administrated as appropriate. The procedure followed in this study were in accordance with the requirements of the World Medical Association Declaration of Helsinki revised in 2013. And this patient signed the informed consents for clinical trials. \u0000 \u0000 \u0000Results \u0000On January 1, 2019, the patient was diagnosed as APL, with PML-RARα (Bcr1 type) positive, complex karyotype and intermediate risk group, based on complete results of relevant laboratory and auxiliary examination. This patient achieved good efficacy after treatment of ATRA+ ATO regimen. After treatment with ATRA, the patient presented fever, respiratory failure, pleural effusion, and increased WBC, etc.. Then RAS was considered. After treatment with dexamethasone, pirarubicin and symptomatic treatment, the patient′s clinical symptoms of RAS were significantly improved. As of February 2019, the patient was generally in good condition and was currently being followed up regularly. \u0000 \u0000 \u0000Conclusions \u0000ATRA+ ATO regimen has a good efficacy in treatment of APL. When RAS appears during the treatment, glucocorticoids and corresponding treatment should be actively used. Since only one patient was retrospectively analyzed in this study, the exact efficacy of APL and RAS needs further verification by expanding the study sample size. \u0000 \u0000 \u0000Key words: \u0000Leukemia, promyelocytic, acute; Tretinoin; Arsenicals; Acute promyelocytic leukemia; Retinoic acid syndrome; PML-RAR;ATRA; ATO; Dexamethasone; Retrospective studies","PeriodicalId":13774,"journal":{"name":"International Journal of Blood Transfusion and Hematology","volume":"43 1","pages":"57-61"},"PeriodicalIF":0.0,"publicationDate":"2020-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45718930","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 : 2020-01-20DOI: 10.3760/CMA.J.ISSN.1673-419X.2020.01.013
Wendi Liu, Chun‐Hsun Yang, J-Y Su, Jianke Zhang, Lingling Che, Ling Zhao
Objective To explore characteristics of Rh blood group phenotypes and RHD gene polymorphism among Han nationality voluntary blood donors with RhD negative of primary screening in Weifang City, Shandong Province. Methods From March 2015 to July 2017, a total of 1 307 Han nationality blood donors who were negative for RhD primary screening when participated in the voluntary blood donation at Weifang Blood Center, were selected as subjects. Among them, there were 921 male donors and 386 females, aged 18-55 years. Serological testing method was used to confirm RhD negative of 1 307 blood donors with RhD negative of primary screening. Anti-D blood grouping reagents from 3 different manufacturers and direct antiglobulin test were performed for serological tests. Blood donors who were confirmed RhD negative by serological test were classified for Rh blood group phenotype, and the phenotype frequency of each RhCcEe and their haplotype frequencies were calculated. From September 2015 to March 2016, a total of 116 blood donors with RhD negative of primary screening were selected for RHD gene detection. PCR-sequence-specific primer (SSP) method and human erythrocyte RHD genotyping kit were used for RHD gene detection. And the gene polymorphism of RHD gene was analyzed. The frequencies of Rh blood group phenotypes and haplotypes were calculated by square root method. The test for Hardy-Weinberg equilibrium of the phenotype frequency distribution of Rh blood group phenotypes were conducted by chi-square test. The procedures followed in this study were accordance with the requirements of the World Medical Association Declaration of Helsinki revised in 2013, and all the blood donors signed the informed consents. Results ① Among 1 307 blood donors with RhD negative of primary screening from Weifang in this study, there were 1 244 donors (95.2%) with RhD negative and 63 donors (4.8%) with RhD variants. ② Among the 1 244 RhD negative blood donors, there were 773 donors (62.14%) with ccee phenotypes, 329 cases (26.45%) with Ccee, 83 cases (6.66%) with ccEe, 40 cases (3.22%) with CCee, 18 cases (1.45%) with CcEe and 1 case (0.08%) with CCEe. The haplotype frequencies of cde, CdE, Cde and cdE were 78.83%, 0.06%, 16.99% and 4.12%, respectively. The result of test for Hardy-Weinberg equilibrium showed that there was no significant difference between the observed and expected values of Rh blood group phenotype frequencies in 1 244 RhD negative blood donors (χ2=2.17, P>0.05). ③ Among 116 blood donors with RhD negative of primary screening, there were 77 cases (66.4%) with whole RHD exon deletion genotypes, 13 cases (11.2%) with RHD-CE(2-9)-D, 3 cases (2.6%) with weak D15, 19 cases (16.4%) with homozygous DEL RHD1227A, and 4 cases (3.5%) with heterozygous DEL RHD1227A. Conclusions This study preliminarily investigate characteristics of Rh blood type phenotypes and RHD gene distribution among donors with RhD negative in Weifang City, which ensure the blo
目的探讨山东省潍坊市初筛RHD阴性汉族无偿献血者Rh血型表型及RHD基因多态性特征。方法选取2015年3月至2017年7月在潍坊血液中心参加无偿献血时RhD初筛阴性的1 307名汉族献血者作为研究对象。其中男性921例，女性386例，年龄18 ~ 55岁。采用血清学检测方法对1 307例初筛RhD阴性献血者进行RhD阴性诊断。血清学检测采用3家不同厂家的抗d血型分型试剂和直接抗球蛋白试验。对血清学检测为RhD阴性的献血者进行Rh血型表型分类，计算各RhCcEe的表型频率及其单倍型频率。选取2015年9月至2016年3月116例初筛RhD阴性献血者进行RhD基因检测。采用pcr序列特异性引物(SSP)法和人红细胞RHD基因分型试剂盒进行RHD基因检测。并对RHD基因多态性进行了分析。采用平方根法计算Rh血型表型和单倍型的频率。Rh血型表型频率分布的Hardy-Weinberg平衡检验采用卡方检验。本研究遵循的程序符合2013年修订的《世界医学协会赫尔辛基宣言》的要求，所有献血者均签署了知情同意书。结果①在潍坊市1 307例初筛RhD阴性献血者中，RhD阴性献血者1 244例(95.2%)，RhD变异献血者63例(4.8%)。②1 244例RhD阴性献血者中，ccee表型773例(62.14%)，ccee表型329例(26.45%)，ccee表型83例(6.66%)，ccee表型40例(3.22%)，ccee表型18例(1.45%)，ccee表型1例(0.08%)。cde、cde、cde和cde的单倍型频率分别为78.83%、0.06%、16.99%和4.12%。Hardy-Weinberg平衡检验结果显示，1 244例Rh阴性献血者Rh血型表型频率的实施值与期望值无显著差异(χ2=2.17, P < 0.05)。③116例初筛RhD阴性献血者中，RhD全外显子缺失基因型77例(66.4%)，RhD - ce (2-9)-D基因型13例(11.2%)，弱D15基因型3例(2.6%)，纯合子DEL RHD1227A基因型19例(16.4%)，杂合子DEL RHD1227A基因型4例(3.5%)。结论初步了解潍坊市Rh阴性献血者Rh血型表型及RHD基因分布特点，为Rh阴性患者输血安全提供保障，为建立RHD阴性罕见血型库提供科学依据。关键词:Rh-Hr血型系统;表型;RhD阴性;RHD基因;RHD外显子;基因多态性
{"title":"Rh blood group phenotypes and distribution of RHD gene polymorphism among Han nationality voluntary blood donors with RhD negative of primary screening in Weifang City, Shandong Province","authors":"Wendi Liu, Chun‐Hsun Yang, J-Y Su, Jianke Zhang, Lingling Che, Ling Zhao","doi":"10.3760/CMA.J.ISSN.1673-419X.2020.01.013","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1673-419X.2020.01.013","url":null,"abstract":"Objective \u0000To explore characteristics of Rh blood group phenotypes and RHD gene polymorphism among Han nationality voluntary blood donors with RhD negative of primary screening in Weifang City, Shandong Province. \u0000 \u0000 \u0000Methods \u0000From March 2015 to July 2017, a total of 1 307 Han nationality blood donors who were negative for RhD primary screening when participated in the voluntary blood donation at Weifang Blood Center, were selected as subjects. Among them, there were 921 male donors and 386 females, aged 18-55 years. Serological testing method was used to confirm RhD negative of 1 307 blood donors with RhD negative of primary screening. Anti-D blood grouping reagents from 3 different manufacturers and direct antiglobulin test were performed for serological tests. Blood donors who were confirmed RhD negative by serological test were classified for Rh blood group phenotype, and the phenotype frequency of each RhCcEe and their haplotype frequencies were calculated. From September 2015 to March 2016, a total of 116 blood donors with RhD negative of primary screening were selected for RHD gene detection. PCR-sequence-specific primer (SSP) method and human erythrocyte RHD genotyping kit were used for RHD gene detection. And the gene polymorphism of RHD gene was analyzed. The frequencies of Rh blood group phenotypes and haplotypes were calculated by square root method. The test for Hardy-Weinberg equilibrium of the phenotype frequency distribution of Rh blood group phenotypes were conducted by chi-square test. The procedures followed in this study were accordance with the requirements of the World Medical Association Declaration of Helsinki revised in 2013, and all the blood donors signed the informed consents. \u0000 \u0000 \u0000Results \u0000① Among 1 307 blood donors with RhD negative of primary screening from Weifang in this study, there were 1 244 donors (95.2%) with RhD negative and 63 donors (4.8%) with RhD variants. ② Among the 1 244 RhD negative blood donors, there were 773 donors (62.14%) with ccee phenotypes, 329 cases (26.45%) with Ccee, 83 cases (6.66%) with ccEe, 40 cases (3.22%) with CCee, 18 cases (1.45%) with CcEe and 1 case (0.08%) with CCEe. The haplotype frequencies of cde, CdE, Cde and cdE were 78.83%, 0.06%, 16.99% and 4.12%, respectively. The result of test for Hardy-Weinberg equilibrium showed that there was no significant difference between the observed and expected values of Rh blood group phenotype frequencies in 1 244 RhD negative blood donors (χ2=2.17, P>0.05). ③ Among 116 blood donors with RhD negative of primary screening, there were 77 cases (66.4%) with whole RHD exon deletion genotypes, 13 cases (11.2%) with RHD-CE(2-9)-D, 3 cases (2.6%) with weak D15, 19 cases (16.4%) with homozygous DEL RHD1227A, and 4 cases (3.5%) with heterozygous DEL RHD1227A. \u0000 \u0000 \u0000Conclusions \u0000This study preliminarily investigate characteristics of Rh blood type phenotypes and RHD gene distribution among donors with RhD negative in Weifang City, which ensure the blo","PeriodicalId":13774,"journal":{"name":"International Journal of Blood Transfusion and Hematology","volume":"43 1","pages":"71-76"},"PeriodicalIF":0.0,"publicationDate":"2020-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46799698","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 : 2020-01-20DOI: 10.3760/CMA.J.ISSN.1673-419X.2020.01.014
Yujie Wang, Tao Wang
Chimeric antigen receptor modified T cells (CAR-T) therapy plays a key role in the treatment of relapsed/refractory hematological malignancies. And the efficacy of such promising therapy is influenced by many factors, including the production, expansion and lethality of CAR-T cells, the kinds and status of diseases, as well as conditioning regimens. Conditioning regimens such as lymphodepleting prior to CAR-T cells infusion are one of good help to enhance the efficacy of CAR-T therapy. Chemothrapy with cyclophosphamide, fludarabine, pentostatin, bendamustine and cytarabine, as well as total body irradiation (TBI) are main conditioning regimens of CAR-T therapy. However, the optimal selection of conditioning regimens, the optimal dose are still uncertain. This article reviews the current status and research progress of conditioning regimens in CAR-T therapy, in order to find the best scheme and improve the efficacy of CAR-T therapy. Key words: Hematologic neoplasms; Transplantation conditioning; T-lymphocytes; Radiotherapy; Chimeric antigen receptor modified T cells
{"title":"Research progress of conditioning regimens in chimeric antigen receptor modified T cells immunotherapy","authors":"Yujie Wang, Tao Wang","doi":"10.3760/CMA.J.ISSN.1673-419X.2020.01.014","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1673-419X.2020.01.014","url":null,"abstract":"Chimeric antigen receptor modified T cells (CAR-T) therapy plays a key role in the treatment of relapsed/refractory hematological malignancies. And the efficacy of such promising therapy is influenced by many factors, including the production, expansion and lethality of CAR-T cells, the kinds and status of diseases, as well as conditioning regimens. Conditioning regimens such as lymphodepleting prior to CAR-T cells infusion are one of good help to enhance the efficacy of CAR-T therapy. Chemothrapy with cyclophosphamide, fludarabine, pentostatin, bendamustine and cytarabine, as well as total body irradiation (TBI) are main conditioning regimens of CAR-T therapy. However, the optimal selection of conditioning regimens, the optimal dose are still uncertain. This article reviews the current status and research progress of conditioning regimens in CAR-T therapy, in order to find the best scheme and improve the efficacy of CAR-T therapy. \u0000 \u0000 \u0000Key words: \u0000Hematologic neoplasms; Transplantation conditioning; T-lymphocytes; Radiotherapy; Chimeric antigen receptor modified T cells","PeriodicalId":13774,"journal":{"name":"International Journal of Blood Transfusion and Hematology","volume":"43 1","pages":"77-81"},"PeriodicalIF":0.0,"publicationDate":"2020-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42767464","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 : 2020-01-20DOI: 10.3760/CMA.J.ISSN.1673-419X.2020.01.005
Zhewei He
Acute myeloid leukemia (AML) has a high recurrence rate, high case fatality rate and drug resistance, which are major problems to be solved and a research hotspot. A number of researches confirmed that exosome-derived microRNA (miRNA) plays an important role in the disease process, such as the regulation of bone marrow microenvironment, formation of tumor blood vessels in AML, and participating in the occurrence of drug resistance. So for exosome-derived miRNA related researches in AML provide the new research direction to improve the prognosis of patients with AML and overcome drug resistance. The article intends to introduce the related role of exosome-derived miRNA in AML and the drug resistance mechanism of AML mediated by them. Key words: Leukemia, myeloid, acute; Exosomes; MicroRNAs; Drug resistance, neoplasm; Tumor microenvironment
{"title":"Research status of exosome-derived microRNA in acute myeloid leukemia","authors":"Zhewei He","doi":"10.3760/CMA.J.ISSN.1673-419X.2020.01.005","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1673-419X.2020.01.005","url":null,"abstract":"Acute myeloid leukemia (AML) has a high recurrence rate, high case fatality rate and drug resistance, which are major problems to be solved and a research hotspot. A number of researches confirmed that exosome-derived microRNA (miRNA) plays an important role in the disease process, such as the regulation of bone marrow microenvironment, formation of tumor blood vessels in AML, and participating in the occurrence of drug resistance. So for exosome-derived miRNA related researches in AML provide the new research direction to improve the prognosis of patients with AML and overcome drug resistance. The article intends to introduce the related role of exosome-derived miRNA in AML and the drug resistance mechanism of AML mediated by them. \u0000 \u0000 \u0000Key words: \u0000Leukemia, myeloid, acute; Exosomes; MicroRNAs; Drug resistance, neoplasm; Tumor microenvironment","PeriodicalId":13774,"journal":{"name":"International Journal of Blood Transfusion and Hematology","volume":"37 3","pages":"23-26"},"PeriodicalIF":0.0,"publicationDate":"2020-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41265553","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 : 2020-01-20DOI: 10.3760/CMA.J.ISSN.1673-419X.2020.01.002
Yi-ling Dai, Xia Guo
Opsoclonus-myoclonus-ataxia syndrome (OMAS) is the most common type of paraneoplastic neurologic syndrome (PNS) in children. The annual incidence of OMAS is about 0.02/105, and the majority of OMAS cases occurs in children under 4 years old, especially in children with neuroblastoma (NB). The pathogenesis of OMAS associated with NB has not yet been fully clarified. The key pathophysiology might be closely associated with inflammatory reaction and resultant damage to neuronal tissues mediated primarily by autoimmune mechanisms, rather than direct tumor infiltration or metastasis. The common clinical manifestations include gait disturbances, ataxia, and myoclonus. The mainstay of management for OMAS associated with NB is the treatment of the primary tumor. This present review focuses on recent advances in the pathogenesis, clinical manifestations, diagnosis and treatment of OMAS associated with NB. Key words: Paraneoplastic syndromes, nervous system; Neuroblastoma; Pathogenesis; Clinical manifestations, Treatment; Opsoclonus-myoclonus-ataxia syndrome
{"title":"Advances in diagnosis and treatment of opsoclonus-myoclonus-ataxia syndrome associated with neuroblastoma","authors":"Yi-ling Dai, Xia Guo","doi":"10.3760/CMA.J.ISSN.1673-419X.2020.01.002","DOIUrl":"https://doi.org/10.3760/CMA.J.ISSN.1673-419X.2020.01.002","url":null,"abstract":"Opsoclonus-myoclonus-ataxia syndrome (OMAS) is the most common type of paraneoplastic neurologic syndrome (PNS) in children. The annual incidence of OMAS is about 0.02/105, and the majority of OMAS cases occurs in children under 4 years old, especially in children with neuroblastoma (NB). The pathogenesis of OMAS associated with NB has not yet been fully clarified. The key pathophysiology might be closely associated with inflammatory reaction and resultant damage to neuronal tissues mediated primarily by autoimmune mechanisms, rather than direct tumor infiltration or metastasis. The common clinical manifestations include gait disturbances, ataxia, and myoclonus. The mainstay of management for OMAS associated with NB is the treatment of the primary tumor. This present review focuses on recent advances in the pathogenesis, clinical manifestations, diagnosis and treatment of OMAS associated with NB. \u0000 \u0000 \u0000Key words: \u0000Paraneoplastic syndromes, nervous system; Neuroblastoma; Pathogenesis; Clinical manifestations, Treatment; Opsoclonus-myoclonus-ataxia syndrome","PeriodicalId":13774,"journal":{"name":"International Journal of Blood Transfusion and Hematology","volume":"43 1","pages":"8-11"},"PeriodicalIF":0.0,"publicationDate":"2020-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44495029","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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