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[Rinsho ketsueki] The Japanese journal of clinical hematology最新文献

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Pub Date : 2024-01-01 DOI: 10.11406/rinketsu.65.453
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引用次数: 0
[Congenital thrombotic thrombocytopenic purpura diagnosed in adulthood after repeated thrombocytopenia since neonatal period]. [先天性血栓性血小板减少性紫癜,自新生儿期起反复血小板减少,成年后确诊]。
Pub Date : 2024-01-01 DOI: 10.11406/rinketsu.65.142
Teruhiko Yoshino, Takuro Kuriyama, Sae Utsumi, Takashi Shimakawa, Mariko Minami, Masayasu Hayashi, Yayoi Matsuo, Koichi Kokame, Eriko Nakamura, Masanori Matsumoto, Tetsuya Eto, Shuichi Taniguchi

A 27-year-old woman was diagnosed with idiopathic thrombocytopenic purpura in the neonatal period, and was admitted to our hospital after presenting with impaired consciousness, purpura, nausea and vomiting, with a platelet count of 10×109/l. Congenital thrombotic thrombocytopenic purpura (cTTP) was suspected on the basis of recurrent thrombocytopenia and impaired consciousness, so tests for ADAMTS13 activity and inhibitor were performed. ADAMTS13 activity was severely decreased, ADAMTS13 inhibitor was negative, and platelet count increased after transfusion of fresh frozen plasma. These findings and the results of genetic testing done on all family members led to a diagnosis of cTTP. cTTP requires differential diagnosis even in adults. If a patient diagnosed with ITP in childhood has a history or findings that suggest cTTP during follow-up observation, it is necessary to actively consider ADAMTS13 testing.

一名 27 岁的女性在新生儿期被诊断为特发性血小板减少性紫癜,因出现意识障碍、紫癜、恶心和呕吐,血小板计数为 10×109/l 而住进我院。根据反复出现的血小板减少和意识障碍,怀疑是先天性血栓性血小板减少性紫癜(cTTP),因此进行了 ADAMTS13 活性和抑制剂检测。ADAMTS13 活性严重下降,ADAMTS13 抑制剂阴性,输注新鲜冰冻血浆后血小板计数增加。这些发现以及对所有家庭成员进行的基因检测结果导致了 cTTP 的诊断。如果儿童期被诊断为 ITP 的患者有病史或在随访观察中发现提示 cTTP,则有必要积极考虑进行 ADAMTS13 检测。
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引用次数: 0
[Mitochondrial metabolism and erythroid differentiation]. [线粒体代谢与红细胞分化]。
Pub Date : 2024-01-01 DOI: 10.11406/rinketsu.65.183
Tohru Fujiwara

The transcription factor GATA-1 is essential for erythroid differentiation. Recently, FAM210B, which encodes a mitochondrial inner membrane protein, has been identified as a novel target of GATA-1. To clarify the role of FAM210B, we depleted endogenous FAM210B in human iPS-derived erythroid progenitor (HiDEP-1) cells, and found that erythroid differentiation was more pronounced in the FAM210B depleted cells. Comprehensive metabolite analysis revealed a decline in mitochondrial function accompanied by increased lactate production, indicative of anaerobic glycolysis. Mass spectrometry revealed that FAM210B could interact with multiple subunits of mitochondrial ATP synthases, such as subunit alpha (ATP5A) and beta (ATP5B). Our results suggested that FAM210B contributes prominently to erythroid differentiation by regulating mitochondrial energy metabolism. This review will discuss the potential association between mitochondrial metabolism and erythropoiesis.

转录因子 GATA-1 对红细胞分化至关重要。最近,编码线粒体内膜蛋白的 FAM210B 被确定为 GATA-1 的新靶标。为了明确FAM210B的作用,我们在人iPS衍生红细胞祖细胞(HiDEP-1)中去除了内源性FAM210B,发现去除了FAM210B的细胞红细胞分化更明显。综合代谢物分析表明,线粒体功能下降,同时乳酸生成增加,表明存在无氧糖酵解。质谱分析表明,FAM210B 可与线粒体 ATP 合成酶的多个亚基相互作用,如α亚基(ATP5A)和β亚基(ATP5B)。我们的研究结果表明,FAM210B 通过调节线粒体能量代谢,对红细胞分化做出了突出贡献。本综述将讨论线粒体代谢与红细胞生成之间的潜在联系。
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引用次数: 0
Pub Date : 2024-01-01 DOI: 10.11406/rinketsu.65.1341
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引用次数: 0
[Overview]. [概述]。
Pub Date : 2024-01-01 DOI: 10.11406/rinketsu.65.1276
Masatoshi Sakurai
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引用次数: 0
[Allogeneic transplantation as a therapeutic option for atypical chronic myeloid leukemia]. [异基因移植作为非典型慢性髓性白血病的一种治疗方案]。
Pub Date : 2024-01-01 DOI: 10.11406/rinketsu.65.967
Hidehiro Itonaga

Atypical chronic myeloid leukemia (aCML) is a rare disease classified as a myelodysplastic/myeloproliferative neoplasm (MDS/MPN). Recent advances in gene mutational profiling have clarified the characteristics of aCML as a disease entity relative to other MDS/MPNs. Although some studies suggest the efficacy of DNA demethylating agents and tyrosine kinase inhibitors, data about these agents are limited due to the small number of patients. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is only therapeutic option that can provide durable remission for aCML and other MDS/MPNs. Retrospective studies from Europe and Japan revealed the clinical results of allo-HSCT for aCML. This review summarizes the pathogenesis of aCML and the development of allo-HSCT and other therapeutic options.

非典型慢性髓性白血病(aCML)是一种罕见疾病,被归类为骨髓增生异常/骨髓增生性肿瘤(MDS/MPN)。基因突变分析的最新进展阐明了 aCML 作为一种疾病实体相对于其他 MDS/MPN 的特征。尽管一些研究表明 DNA 去甲基化药物和酪氨酸激酶抑制剂具有疗效,但由于患者人数较少,有关这些药物的数据十分有限。异基因造血干细胞移植(allo-HSCT)是唯一能为 aCML 和其他 MDS/MPNs 带来持久缓解的治疗方案。欧洲和日本的回顾性研究揭示了异基因造血干细胞移植治疗 aCML 的临床效果。本综述概述了 aCML 的发病机制以及 allo-HSCT 和其他治疗方案的发展。
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引用次数: 0
[Pathogenesis and treatment of acute myeloid leukemia with FLT3 mutations]. [FLT3突变的急性髓性白血病的发病机制和治疗]。
Pub Date : 2024-01-01 DOI: 10.11406/rinketsu.65.945
Yuichi Ishikawa

FLT3 mutations are the most frequently identified genetic abnormalities in adult acute myeloid leukemia (AML) patients, accounting for approximately 30%. FLT3-ITD mutation specifically is considered as a poor prognostic factor in AML, and allogeneic hematopoietic cell transplantation in first remission is recommended for younger patients. The recent clinical introduction of FLT3 inhibitors has been reported to improve the prognosis of patients with FLT3 mutation-positive AML. In Japan, alongside monotherapy with gilteritinib or quizartinib for relapsed/refractory patients, combination of quizartinib with intensive chemotherapy was approved in 2023 for untreated FLT3-ITD mutation-positive AML. Studies to date have demonstrated the utility of measurable/minimal residual disease evaluation targeting FLT3 mutations and the efficacy of maintenance therapy after allogeneic transplantation. However, emergence of additional genetic mutations associated with treatment resistance has been observed. Thus, FLT3 mutations are utilized not only as a prognostic factor in AML but also as a target for treatment and for response assessment. Furthermore, the development of new treatment strategies involving FLT3 inhibitors is highly anticipated to improve clinical outcomes for patients with FLT3 mutation-positive AML.

FLT3 突变是成人急性髓性白血病(AML)患者中最常发现的基因异常,约占 30%。FLT3-ITD突变被认为是急性髓细胞白血病的不良预后因素,建议年轻患者在首次缓解期进行异基因造血细胞移植。据报道,近期临床引入的FLT3抑制剂可改善FLT3突变阳性急性髓细胞性白血病患者的预后。在日本,除了对复发/难治患者使用吉特替尼或奎沙替尼单药治疗外,奎沙替尼联合强化化疗也于2023年获批用于未经治疗的FLT3-ITD突变阳性急性髓细胞白血病患者。迄今为止的研究已经证明了针对FLT3突变的可测量/最小残留病评估的实用性以及异基因移植后维持治疗的疗效。不过,也观察到出现了与耐药性相关的其他基因突变。因此,FLT3 突变不仅是急性髓细胞性白血病的预后因素,也是治疗和反应评估的目标。此外,涉及 FLT3 抑制剂的新治疗策略的开发有望改善 FLT3 突变阳性急性髓细胞性白血病患者的临床疗效。
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引用次数: 0
[The novel in vivo platelet activation marker, soluble CLEC-2]. [新型体内血小板活化标记--可溶性 CLEC-2]。
Pub Date : 2024-01-01 DOI: 10.11406/rinketsu.65.1106
Katsue Suzuki-Inoue

Unlike for anticoagulants, no good monitoring methods exist for antiplatelet agents, and their monitoring is considered unnecessary. In the platelet aggregation test, which is the standard test for platelet function, aggregation is evaluated by adding a platelet activator to platelets in a cuvette. Therefore, it provides information on the maximum potential of platelets to induce aggregation, but not the actual in vivo degree of platelet activation. In vivo platelet activation markers are not widely used because they require a special blood collection method, although some tests are covered by insurance. My colleagues and I identified the platelet activation receptor C-type lectin-like receptor 2 (CLEC-2) and found that CLEC-2 is cleaved and released during platelet activation. We established a plasma-soluble CLEC-2 (sCLEC-2) assay system with the aim of using it as a marker of in vivo platelet activation. Elevation of sCLEC-2 has been reported in various thrombotic diseases. The multi-center prospective cohort study CLECSTRO is now underway to investigate the usefulness of sCLEC-2 for diagnosis, typing, and prognostic estimation in acute ischemic stroke.

与抗凝剂不同,抗血小板药物没有很好的监测方法,因此没有必要对其进行监测。血小板聚集试验是血小板功能的标准检测方法,通过向比色皿中的血小板添加血小板活化剂来评估血小板聚集情况。因此,它提供的信息是血小板诱导聚集的最大潜力,而不是血小板在体内的实际活化程度。体内血小板活化标记物需要特殊的采血方法,因此并未得到广泛应用,不过有些检测项目属于保险范围。我和我的同事确定了血小板活化受体 C 型凝集素样受体 2(CLEC-2),并发现 CLEC-2 在血小板活化过程中会被裂解和释放。我们建立了血浆可溶性 CLEC-2(sCLEC-2)检测系统,目的是将其用作体内血小板活化的标志物。各种血栓性疾病中都有 sCLEC-2 升高的报道。目前正在进行多中心前瞻性队列研究 CLECSTRO,研究 sCLEC-2 在急性缺血性中风的诊断、分型和预后评估中的作用。
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引用次数: 0
[Supporting career development of female physicians and researchers]. [支持女医生和女研究员的职业发展]。
Pub Date : 2024-01-01 DOI: 10.11406/rinketsu.65.769
Mariko Eguchi

The proportion of female doctors among younger generations has increased in recent years, and support for reemployment after childbirth and childcare leave is important for maintaining stability of local healthcare. We conducted a questionnaire with doctors in the Department of Pediatrics at Ehime University School of Medicine and it's affiliated hospitals to identify issues in the career development of female doctors. Although many female physicians want to pursue career development by obtaining subspecialty qualifications and PhD degrees, a high percentage have not actually obtained them. This is not only due to interruptions in work caused by childbirth and childcare but also because they are busy with housework, childcare, and daily work, and lack sufficient information about career development. In this regard, it appears that beyond improving work-life balance, female doctors must always keep in mind their career design and future goals, as well as their social mission as a physician. For administrators of these departments, acceptance of diversity, providing adequate support for female physicians to return to work after maternity/childcare leave, and balancing childcare and work are important for expanding female doctors' opportunities and career development.

近年来,年轻一代中女医生的比例有所上升,而对生育和育儿假后再就业的支持对于保持当地医疗的稳定性非常重要。我们对爱媛大学医学院儿科系及其附属医院的医生进行了问卷调查,以了解女医生职业发展中存在的问题。尽管许多女医生都希望通过获得亚专科资格和博士学位来谋求职业发展,但实际上有很大比例的女医生并未获得这些资格和学位。这不仅是因为生育和育儿导致工作中断,还因为她们忙于家务、育儿和日常工作,缺乏足够的职业发展信息。由此看来,除了改善工作与生活的平衡,女医生还必须时刻牢记自己的职业设计和未来目标,以及作为医生的社会使命。对于这些科室的管理者来说,接受多样性、为女医生在产假/育儿假后重返工作岗位提供足够的支持以及平衡育儿和工作对于扩大女医生的机会和职业发展非常重要。
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引用次数: 0
[Diffuse large B-cell lymphoma concurrent with Kaposi's sarcoma in the same lymph node in a human immunodeficiency virus-negative patient]. [一名人类免疫缺陷病毒阴性患者的弥漫大 B 细胞淋巴瘤与卡波西肉瘤同时出现在同一淋巴结中]。
Pub Date : 2024-01-01 DOI: 10.11406/rinketsu.65.74
Shiori Nakashima, Shin Ohara, Yui Imai, Hirofumi Nakano, Tomoyuki Uchida, Morihiro Inoue, Masao Hagihara

An 80-year-old Japanese man presented with systemic lymphadenopathy, including the para-aortic area and left inguinal nodes, which was diagnosed as diffuse large B-cell lymphoma (DLBCL) and human herpesvirus (HHV) 8-positive/HIV-negative Kaposi's sarcoma (KS). Immunohistochemical examination revealed that the lymphoma cells were negative for HHV-8. The patient received combined chemotherapy with rituximab, pirarubicin, cyclophosphamide, vincristine, and prednisolone for six cycles and achieved complete remission. In the literature, five cases of simultaneous appearance of malignant lymphoma and KS in the same lymph node have been reported, but DLBCL as a histological subtype has not yet been reported.

一名80岁的日本男子出现全身淋巴结病变,包括主动脉旁区域和左腹股沟结,被诊断为弥漫大B细胞淋巴瘤(DLBCL)和人类疱疹病毒(HHV)8阳性/HIV阴性卡波西肉瘤(KS)。免疫组化检查显示,淋巴瘤细胞的 HHV-8 阴性。患者接受了利妥昔单抗、吡拉比星、环磷酰胺、长春新碱和泼尼松龙联合化疗六个周期,并获得完全缓解。在文献中,有五例恶性淋巴瘤和 KS 同时出现在同一淋巴结的报道,但 DLBCL 作为一种组织学亚型尚未见报道。
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引用次数: 0
期刊
[Rinsho ketsueki] The Japanese journal of clinical hematology
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