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Cytogenetics and genomics in CML and other myeloproliferative neoplasms CML 和其他骨髓增生性肿瘤的细胞遗传学和基因组学
IF 2.1 4区 医学 Q3 HEMATOLOGY Pub Date : 2024-04-03 DOI: 10.1016/j.beha.2024.101552
Hans H. Kreipe , Brigitte Schlegelberger

Chronic myeloid leukemia is defined by the presence of the Philadelphia translocation t (9; 22) resulting in the BCR::ABL1 fusion. The other myeloproliferative neoplasms (MPN) subtypes also carry typical chromosomal abnormalities, which however are not pathognomonic for a specific entity of MPN. According to the WHO classification the distinction between these entities is still based on the integration of cytological, histopathological and molecular findings. Progression of CML into accelerated and blastic phase is usually driven by additional chromosome abnormalities and ABL1 kinase mutations. In the other MPN subtypes the additional mutations besides driver gene mutations in JAK2, MPL and CALR have a decisive impact on the propensity for progression. In addition, the sequence in which the driver mutations and risk conveying additional mutations have been acquired appears to play an important role. Here, we review cytogenetic and molecular changes in CML and MPN that should be evaluated during diagnosis and disease monitoring.

慢性髓性白血病的定义是存在费城易位 t(9;22),导致 BCR::ABL1 融合。其他骨髓增殖性肿瘤(MPN)亚型也存在典型的染色体异常,但这些异常并不代表 MPN 的特定实体。根据世卫组织的分类,这些实体之间的区别仍然是基于细胞学、组织病理学和分子研究结果的整合。CML 进展到加速期和增生期通常是由额外的染色体异常和 ABL1 激酶突变引起的。在其他骨髓增生性疾病亚型中,除了 JAK2、MPL 和 CALR 的驱动基因突变外,其他突变对疾病的进展倾向也有决定性影响。此外,驱动基因突变和风险传递附加突变的获得顺序似乎也起着重要作用。在此,我们回顾了在诊断和疾病监测期间应评估的 CML 和 MPN 的细胞遗传学和分子变化。
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引用次数: 0
The Collaborative Biobank (CoBi): Donor and recipient samples & data to facilitate future research on hematopoietic cell transplantation 合作生物库 (CoBi):促进未来造血细胞移植研究的捐献者和受者样本及数据
IF 2.1 4区 医学 Q3 HEMATOLOGY Pub Date : 2024-04-01 DOI: 10.1016/j.beha.2024.101551
Claudia Spielau , Carolin Bunzel , Stefan Abert , Henning Baldauf , Alexander H. Schmidt , Johannes Schetelig

Biobanking provides benefit for future generations by facilitating medical research and subsequent translation and application of research findings. Long-term storage and research involving biological material and associated data necessitate the proper implementation of ethical and legal standards. A key principle includes recognizing informed consent as a crucial element for legitimizing the collection of biological material and data. Furthermore, any collected material and data must be employed exclusively for the research framework that aligns with the explicit consent provided by the participants. Last but not least, data privacy and security are essential in biobanking. This review elucidates chances and limitations of biobanking in the field of allogeneic hematopoietic cell transplantation. We discuss the practical implementation of the requirements, illustrated by the Collaborative Biobank, a collaborative research platform for research in blood cancer.

生物银行通过促进医学研究以及研究成果的后续转化和应用,造福子孙后代。涉及生物材料和相关数据的长期储存和研究必须正确执行伦理和法律标准。其中一项关键原则是,确认知情同意是使生物材料和数据的收集合法化的关键因素。此外,任何收集到的材料和数据都必须仅用于研究框架,并与参与者提供的明确同意书相一致。最后但并非最不重要的一点是,数据隐私和安全对生物银行至关重要。本综述阐明了异基因造血细胞移植领域生物库的机会和局限性。我们以血癌研究的合作研究平台--合作生物库为例,讨论了这些要求的实际执行情况。
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引用次数: 0
Providing hematopoietic stem cell products from unrelated donors to the world: DKMS donor centers and DKMS Registry 向全世界提供非亲属捐献者的造血干细胞产品:DKMS 捐赠者中心和 DKMS 登记处
IF 2.1 4区 医学 Q3 HEMATOLOGY Pub Date : 2024-03-01 DOI: 10.1016/j.beha.2024.101541
Alexander H. Schmidt , Jürgen Sauter , Johannes Schetelig , Elke Neujahr , Julia Pingel

Allogeneic hematopoietic stem cell (HSC) transplantation is a curative therapy for many severe blood diseases. As many patients have no suitable family donor, large unrelated donor registries and donor centers have been established in many countries, along with an international system for the provision of unrelated donor HSC products. As an essential part of this system, DKMS operates donor centers in 7 countries with a total of 12.2 million donors and over 114,000 donations so far, and a multinational donor registry. In 2022, DKMS donors contributed 57.5% of all cross-border donations worldwide. In this review, we describe the international system for the provision of unrelated donor HSC products as well as tasks and responsibilities of donor registries and donor centers. We also discuss relevant aspects of DKMS donor centers, namely donor file composition, matching and donation probabilities and actual donations, and the unique multinational approach of the DKMS Registry.

异体造血干细胞(HSC)移植是治疗许多严重血液病的一种疗法。由于许多患者没有合适的家庭捐献者,因此许多国家建立了大型非亲属捐献者登记处和捐献中心,并建立了提供非亲属捐献者造血干细胞产品的国际系统。作为该系统的重要组成部分,DKMS 在 7 个国家运营着捐献中心,迄今已有 1.22 万名捐献者和超过 11.4 万例捐献,并建立了一个跨国捐献者登记册。2022 年,DKMS 捐赠者的捐赠量占全球跨境捐赠总量的 57.5%。在这篇综述中,我们介绍了提供非亲属捐献者造血干细胞产品的国际系统,以及捐献者登记处和捐献中心的任务和责任。我们还讨论了 DKMS 捐献中心的相关方面,即捐献者档案组成、配型和捐献概率、实际捐献情况以及 DKMS 登记处独特的跨国方法。
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引用次数: 0
The landscape of cytogenetic and molecular genetic methods in diagnostics for hematologic neoplasia 血液肿瘤诊断中细胞遗传学和分子遗传学方法的前景
IF 2.1 4区 医学 Q3 HEMATOLOGY Pub Date : 2024-03-01 DOI: 10.1016/j.beha.2024.101539
Yvonne Lisa Behrens , Stefan Pietzsch , Željko Antić , Yanming Zhang , Anke K. Bergmann

Improvements made during the last decades in the management of patients with hematologic neoplasia have resulted in increase of overall survival. These advancements have become possible through progress in our understanding of genetic basis of different hematologic malignancies and their role in the current risk-adapted treatment protocols. In this review, we provide an overview of current cytogenetic and molecular genetic methods, commonly used in the genetic characterization of hematologic malignancies, describe the current developments in the cytogenetic and molecular diagnostics, and give an outlook into their future development. Furthermore, we give a brief overview of the most important public databases and guidelines for sequence variant interpretation.

过去几十年来,血液肿瘤患者的治疗水平不断提高,总生存率也随之增加。这些进步得益于我们对不同血液恶性肿瘤的遗传基础及其在当前风险适应性治疗方案中的作用的深入了解。在这篇综述中,我们概述了目前常用于血液恶性肿瘤遗传特征描述的细胞遗传学和分子遗传学方法,介绍了细胞遗传学和分子诊断的最新发展,并对其未来发展进行了展望。此外,我们还简要介绍了最重要的公共数据库和序列变异解读指南。
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引用次数: 0
Corrigendum to “Endpoint selection and evaluation in hematology studies” [Best Pract Res Clin Haematol 36 (2023) 101479] 血液学研究中的终点选择和评估"[Best Pract Res Clin Haematol 36 (2023) 101479] 更正
IF 2.1 4区 医学 Q3 HEMATOLOGY Pub Date : 2024-02-23 DOI: 10.1016/j.beha.2024.101540
Ruta Brazauskas , Mary Eapen , Tao Wang
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引用次数: 0
Corrigendum to “Designing and conducting a clinical trial in blood and marrow transplantation” [Best Pract Res Clin Haematol 36 (2023) 101471] 血液和骨髓移植临床试验的设计与实施"[Best Pract Res Clin Haematol 36 (2023) 101471] 更正
IF 2.1 4区 医学 Q3 HEMATOLOGY Pub Date : 2024-02-02 DOI: 10.1016/j.beha.2024.101538
Michael J. Martens , Yan Gao , Aniko Szabo
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引用次数: 0
Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders 髓样肿瘤的基因易感性:高渗透性与可变渗透性疾病的特征与管理
IF 2.1 4区 医学 Q3 HEMATOLOGY Pub Date : 2024-02-01 DOI: 10.1016/j.beha.2024.101537
Amy M. Trottier , Simone Feurstein , Lucy A. Godley

Myeloid neoplasms with germline predisposition have been recognized increasingly over the past decade with numerous newly described disorders. Penetrance, age of onset, phenotypic heterogeneity, and somatic driver events differ widely among these conditions and sometimes even within family members with the same variant, making risk assessment and counseling of these individuals inherently difficult. In this review, we will shed light on high malignant penetrance (e.g., CEBPA, GATA2, SAMD9/SAMD9L, and TP53) versus variable malignant penetrance syndromes (e.g., ANKRD26, DDX41, ETV6, RUNX1, and various bone marrow failure syndromes) and their clinical features, such as variant type and location, course of disease, and prognostic markers. We further discuss the recommended management of these syndromes based on penetrance with an emphasis on somatic aberrations consistent with disease progression/transformation and suggested timing of allogeneic hematopoietic stem cell transplant. This review will thereby provide important data that can help to individualize and improve the management for these patients.

在过去的十年中,随着许多新描述的疾病的出现,人们越来越认识到具有种系易感性的骨髓性肿瘤。这些疾病之间的渗透性、发病年龄、表型异质性和体细胞驱动事件差异很大,有时甚至在具有相同变异体的家族成员中也不尽相同,这使得对这些个体进行风险评估和咨询变得十分困难。在本综述中,我们将阐明高恶性穿透性(如 CEBPA、GATA2、SAMD9/SAMD9L 和 TP53)与可变恶性穿透性综合征(如 ANKRD26、DDX41、ETV6、RUNX1 和各种骨髓衰竭综合征)及其临床特征,如变异类型和位置、病程和预后标志物。我们还进一步讨论了基于渗透性的这些综合征的推荐治疗方法,重点是与疾病进展/转化一致的体细胞畸变,以及异基因造血干细胞移植的建议时机。这篇综述将提供重要数据,有助于对这些患者进行个体化治疗并改善治疗效果。
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引用次数: 0
Using real-world evidence in haematology 在血液学中使用真实世界的证据
IF 2.1 4区 医学 Q3 HEMATOLOGY Pub Date : 2024-01-27 DOI: 10.1016/j.beha.2024.101536
Francesco Passamonti , Giovanni Corrao , Gastone Castellani , Barbara Mora , Giulia Maggioni , Matteo Giovanni Della Porta , Robert Peter Gale

Most new drug approvals are based on data from large randomized clinical trials (RCTs). However, there are sometimes contradictory conclusions from seemingly similar trials and generalizability of conclusions from these trials is limited. These considerations explain, in part, the gap between conclusions from data of RCTs and those from registries termed real world data (RWD). Recently, real-world evidence (RWE) from RWD processed by artificial intelligence has received increasing attention. We describe the potential of using RWD in haematology concluding RWE from RWD may complement data from RCTs to support regulatory decisions.

大多数新药的批准都是基于大型随机临床试验(RCT)的数据。然而,从看似相似的试验中得出的结论有时会相互矛盾,而且这些试验结论的推广性也很有限。这些因素在一定程度上解释了从随机临床试验数据中得出的结论与从被称为真实世界数据(RWD)的登记数据中得出的结论之间的差距。最近,由人工智能处理的真实世界数据(RWD)得出的真实世界证据(RWE)受到越来越多的关注。我们介绍了在血液学中使用真实世界数据的潜力,并得出结论:来自真实世界数据的 RWE 可以补充 RCT 数据,为监管决策提供支持。
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引用次数: 0
Cytogenetics and genomics of acute myeloid leukemia 急性髓性白血病的细胞遗传学和基因组学
IF 2.1 4区 医学 Q3 HEMATOLOGY Pub Date : 2023-12-10 DOI: 10.1016/j.beha.2023.101533
Oraine Snaith , Corey Poveda-Rogers , Dorottya Laczko , Guang Yang , Jennifer J.D. Morrissette

The diversity of genetic and genomic abnormalities observed in acute myeloid leukemia (AML) reflects the complexity of these hematologic neoplasms. The detection of cytogenetic and molecular alterations is fundamental to diagnosis, risk stratification and treatment of AML. Chromosome rearrangements are well established in the diagnostic classification of AML, as are some gene mutations, in several international classification systems. Additionally, the detection of new mutational profiles at relapse and identification of mutations in the pre- and post-transplant settings are illuminating in understanding disease evolution and are relevant to the risk assessment of AML patients. In this review, we discuss recurrent cytogenetic abnormalities, as well as the detection of recurrent mutations, within the context of a normal karyotype, and in the setting of chromosome abnormalities. Two new classification schemes from the WHO and ICC are described, comparing these classifications in terms of diagnostic criteria and entity definition in AML. Finally, we discuss ways in which genomic sequencing can condense the detection of gene mutations and chromosome abnormalities into a single assay.

在急性髓性白血病(AML)中观察到的遗传和基因组异常的多样性反映了这些血液肿瘤的复杂性。细胞遗传学和分子改变的检测是急性髓细胞白血病诊断、风险分层和治疗的基础。在一些国际分类系统中,染色体重排和一些基因突变已被确定为急性髓细胞性白血病的诊断分类。此外,检测复发时的新突变图谱以及鉴定移植前后的突变也有助于了解疾病的演变,并与急性髓细胞性白血病患者的风险评估相关。在本综述中,我们将讨论复发性细胞遗传学异常,以及在正常核型和染色体异常的情况下检测复发性突变。文章介绍了世界卫生组织和国际癌症分类委员会的两种新分类方案,并从急性髓细胞性白血病的诊断标准和实体定义的角度对这些分类进行了比较。最后,我们讨论了基因组测序如何将基因突变和染色体异常的检测浓缩到一个检测项目中。
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引用次数: 0
Best practice & research clinical haematology: Screening for breast cancer in hodgkin lymphoma survivors 临床血液学的最佳实践与研究:霍奇金淋巴瘤幸存者的乳腺癌筛查
IF 2.1 4区 医学 Q3 HEMATOLOGY Pub Date : 2023-12-01 DOI: 10.1016/j.beha.2023.101525
Stephanie M. Wong

Childhood and young adult survivors of Hodgkin lymphoma are at an elevated risk of developing breast cancer. Breast cancer risk is felt to originate from chest wall radiation exposure prior to the third decade of life, with incidence beginning to rise approximately eight to ten years following Hodgkin lymphoma treatment. Although incidence varies according to age at radiation exposure, dosage, and treatment fields, cohort studies have documented a cumulative incidence of breast cancer of 10–20% by 40 years of age. Women with a history of chest radiation for Hodgkin lymphoma are counselled to begin screening with bilateral breast MRI at 25 years of age, or eight years after radiation, whichever occurs later. Outside of high-risk surveillance, the optimal management approach for women with prior radiation exposure continues to evolve. When diagnosed with breast malignancy, evidence supports consideration of unilateral therapeutic and contralateral prophylactic mastectomy, although breast conserving surgery may be considered following multidisciplinary assessment. This review will address the epidemiology, characteristics, screening and management guidelines, and breast-cancer prevention efforts for Hodgkin lymphoma survivors treated with radiation therapy in adolescence and young adulthood.

霍奇金淋巴瘤的儿童和青年幸存者患乳腺癌的风险较高。乳腺癌的风险被认为起源于30岁之前的胸壁辐射暴露,在霍奇金淋巴瘤治疗后大约8到10年发病率开始上升。尽管发病率因辐射暴露年龄、剂量和治疗领域而异,但队列研究表明,到40岁时,乳腺癌的累积发病率为10-20%。有胸部放射治疗霍奇金淋巴瘤病史的妇女,建议在25岁或放射治疗后8年(以较晚者为准)开始进行双侧乳房MRI筛查。在高风险监测之外,对既往有过辐射照射的妇女的最佳管理方法仍在不断发展。当诊断为乳腺恶性肿瘤时,证据支持考虑单侧治疗性和对侧预防性乳房切除术,尽管在多学科评估后可以考虑保乳手术。本综述将讨论在青春期和青年期接受放射治疗的霍奇金淋巴瘤幸存者的流行病学、特征、筛查和管理指南以及乳腺癌预防措施。
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引用次数: 0
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Best Practice & Research Clinical Haematology
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