{"title":"Corrigendum to “HIV-associated lymphoma” [Best Pract Res Clin Haematol 25 (2012) 101–117]","authors":"Lawrence D. Kaplan","doi":"10.1016/j.beha.2024.101554","DOIUrl":"https://doi.org/10.1016/j.beha.2024.101554","url":null,"abstract":"","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"37 2","pages":"Article 101554"},"PeriodicalIF":2.1,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521692624000203/pdfft?md5=5798664a97689fa496a59ee9ef3434e5&pid=1-s2.0-S1521692624000203-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140815346","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Heike Uhlemann , Katharina Epp , Christian Klesse , Cornelia S. Link-Rachner , Vineeth Surendranath , Ulf-Peter Günther , Johannes Schetelig , Falk Heidenreich
{"title":"Shape of the art: TCR-repertoire after allogeneic hematopoietic cell transplantation","authors":"Heike Uhlemann , Katharina Epp , Christian Klesse , Cornelia S. Link-Rachner , Vineeth Surendranath , Ulf-Peter Günther , Johannes Schetelig , Falk Heidenreich","doi":"10.1016/j.beha.2024.101558","DOIUrl":"10.1016/j.beha.2024.101558","url":null,"abstract":"<div><p>The human adaptive immune repertoire is characterized by specificity and diversity to provide immunity against past and future tasks. Such tasks are mainly infections but also malignant transformations of cells. With its multiple lines of defense, the human immune system contains both, rapid reaction forces and the potential to capture, disassemble and analyze strange structures in order to teach the adaptive immune system and mount a specific immune response. Prevention and mitigation of autoimmunity is of equal importance. In the context of allogeneic hematopoietic cell transplantation (HCT) specific challenges exist with the transfer of cells from the adapted donor immune system to the immunosuppressed recipient. Those challenges are immunogenetic disparity between donor and host, reconstitution of immunity early after HCT by expansion of mature immune effector cells, and impaired thymic function, if the recipient is an adult (as it is the case in most HCTs). The possibility to characterize the adaptive immune repertoire by massively parallel sequencing of T-cell receptor gene rearrangements allows for a much more detailed characterization of the T-cell repertoire. In addition, high-dimensional characterization of immune effector cells based on their immunophenotype and single cell RNA sequencing allow for much deeper insights in adaptive immune responses. We here review, existing – still incomplete – information on immune reconstitution after allogeneic HCT. Building on the technological advances much deeper insights into immune recovery after HCT and adaptive immune responses and can be expected in the coming years.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"37 2","pages":"Article 101558"},"PeriodicalIF":2.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141736642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cytogenetics and genomics in CML and other myeloproliferative neoplasms","authors":"Hans H. Kreipe , Brigitte Schlegelberger","doi":"10.1016/j.beha.2024.101552","DOIUrl":"https://doi.org/10.1016/j.beha.2024.101552","url":null,"abstract":"<div><p>Chronic myeloid leukemia is defined by the presence of the Philadelphia translocation t (9; 22) resulting in the <em>BCR::ABL1</em> 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 <em>ABL1</em> kinase mutations<em>.</em> In the other MPN subtypes the additional mutations besides driver gene mutations in <em>JAK2</em>, <em>MPL</em> and <em>CALR</em> 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.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"37 2","pages":"Article 101552"},"PeriodicalIF":2.1,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521692624000173/pdfft?md5=b5ad2665ab194c713fca304faf7b6626&pid=1-s2.0-S1521692624000173-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140545918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Claudia Spielau , Carolin Bunzel , Stefan Abert , Henning Baldauf , Alexander H. Schmidt , Johannes Schetelig
{"title":"The Collaborative Biobank (CoBi): Donor and recipient samples & data to facilitate future research on hematopoietic cell transplantation","authors":"Claudia Spielau , Carolin Bunzel , Stefan Abert , Henning Baldauf , Alexander H. Schmidt , Johannes Schetelig","doi":"10.1016/j.beha.2024.101551","DOIUrl":"https://doi.org/10.1016/j.beha.2024.101551","url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"37 2","pages":"Article 101551"},"PeriodicalIF":2.1,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521692624000161/pdfft?md5=f96424adfe1772d4940807585220695e&pid=1-s2.0-S1521692624000161-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140545919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Helen Baldomero , Daniel Neumann , Nada Hamad , Yoshiko Atsuta , Anna Sureda , Minako Iida , Amado Karduss , Alaa M. Elhaddad , Nosa G. Bazuaye , Carmem Bonfim , Rafael de la Camara , Naeem A. Chaudhri , Fabio Ciceri , Cinthya Correa , Cristobal Frutos , Sebastian Galeano , Laurent Garderet , Raffaella Greco , Gregorio Jaimovich , Yoshihisa Kodera , Dietger Niederwieser
{"title":"The role of registries in hematological disorders","authors":"Helen Baldomero , Daniel Neumann , Nada Hamad , Yoshiko Atsuta , Anna Sureda , Minako Iida , Amado Karduss , Alaa M. Elhaddad , Nosa G. Bazuaye , Carmem Bonfim , Rafael de la Camara , Naeem A. Chaudhri , Fabio Ciceri , Cinthya Correa , Cristobal Frutos , Sebastian Galeano , Laurent Garderet , Raffaella Greco , Gregorio Jaimovich , Yoshihisa Kodera , Dietger Niederwieser","doi":"10.1016/j.beha.2024.101556","DOIUrl":"10.1016/j.beha.2024.101556","url":null,"abstract":"<div><p>Hematopoietic cell transplantation (HCT) was developed more than 65 years ago to treat malignant blood disorders and irreversible bone marrow failures, with the aim of replacing a diseased hematopoietic system with a healthy one (allogeneic HCT). Decades later, the procedure was adapted to apply maximal chemotherapy or radiotherapy, which would result in bone marrow failure, but could be remedied by an infusion of a patient's own cryopreserved bone marrow (autologous HCT). Both treatments are high-risk and complex, especially during the initial phases. However, concerted efforts, vision, and collaboration between physicians and centers worldwide have resulted in HCT becoming a standard of care for many hematological disorders with progressive improvements in outcomes. Registries and the collaboration of societies worldwide have enabled the delivery of this curative therapy to many patients with fatal hematological diseases. More than 1.5 million HCT were performed between 1957 and 2019, and activity is continuously increasing worldwide.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"37 2","pages":"Article 101556"},"PeriodicalIF":2.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141732112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cytogenetics in haematology","authors":"Yanming Zhang, Brigitte Schlegelberger","doi":"10.1016/j.beha.2024.101553","DOIUrl":"https://doi.org/10.1016/j.beha.2024.101553","url":null,"abstract":"","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"37 2","pages":"Article 101553"},"PeriodicalIF":2.1,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140557511","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alexander H. Schmidt , Jürgen Sauter , Johannes Schetelig , Elke Neujahr , Julia Pingel
{"title":"Providing hematopoietic stem cell products from unrelated donors to the world: DKMS donor centers and DKMS Registry","authors":"Alexander H. Schmidt , Jürgen Sauter , Johannes Schetelig , Elke Neujahr , Julia Pingel","doi":"10.1016/j.beha.2024.101541","DOIUrl":"10.1016/j.beha.2024.101541","url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"37 1","pages":"Article 101541"},"PeriodicalIF":2.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521692624000069/pdfft?md5=bfe217d3a37e0a08be6bbce658f3e4af&pid=1-s2.0-S1521692624000069-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140019956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Francesco Passamonti , Giovanni Corrao , Gastone Castellani , Barbara Mora , Giulia Maggioni , Matteo Giovanni Della Porta , Robert Peter Gale
{"title":"Using real-world evidence in haematology","authors":"Francesco Passamonti , Giovanni Corrao , Gastone Castellani , Barbara Mora , Giulia Maggioni , Matteo Giovanni Della Porta , Robert Peter Gale","doi":"10.1016/j.beha.2024.101536","DOIUrl":"10.1016/j.beha.2024.101536","url":null,"abstract":"<div><p>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 <em>real world</em> 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.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"37 1","pages":"Article 101536"},"PeriodicalIF":2.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S152169262400001X/pdfft?md5=ce02dba5d3f64aa5c6050ac34fcef4c1&pid=1-s2.0-S152169262400001X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139585345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yvonne Lisa Behrens , Stefan Pietzsch , Željko Antić , Yanming Zhang , Anke K. Bergmann
{"title":"The landscape of cytogenetic and molecular genetic methods in diagnostics for hematologic neoplasia","authors":"Yvonne Lisa Behrens , Stefan Pietzsch , Željko Antić , Yanming Zhang , Anke K. Bergmann","doi":"10.1016/j.beha.2024.101539","DOIUrl":"10.1016/j.beha.2024.101539","url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"37 1","pages":"Article 101539"},"PeriodicalIF":2.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521692624000045/pdfft?md5=2ddb1b232f871880768ba9fa82aa3c44&pid=1-s2.0-S1521692624000045-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139767156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Oraine Snaith , Corey Poveda-Rogers , Dorottya Laczko , Guang Yang , Jennifer J.D. Morrissette
{"title":"Cytogenetics and genomics of acute myeloid leukemia","authors":"Oraine Snaith , Corey Poveda-Rogers , Dorottya Laczko , Guang Yang , Jennifer J.D. Morrissette","doi":"10.1016/j.beha.2023.101533","DOIUrl":"10.1016/j.beha.2023.101533","url":null,"abstract":"<div><p>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.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"37 1","pages":"Article 101533"},"PeriodicalIF":2.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521692623000944/pdfft?md5=2da75fb4e7417ed7f830254945a2a074&pid=1-s2.0-S1521692623000944-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138562662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}