{"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":"2024-04-30","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}
{"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":"2024-04-10","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}
{"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":"2024-04-03","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":"2024-04-01","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}
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}
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}
{"title":"Corrigendum to “Endpoint selection and evaluation in hematology studies” [Best Pract Res Clin Haematol 36 (2023) 101479]","authors":"Ruta Brazauskas , Mary Eapen , Tao Wang","doi":"10.1016/j.beha.2024.101540","DOIUrl":"https://doi.org/10.1016/j.beha.2024.101540","url":null,"abstract":"","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"37 1","pages":"Article 101540"},"PeriodicalIF":2.1,"publicationDate":"2024-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521692624000057/pdfft?md5=85c877516a7da0bfa4ec6463ae9d8879&pid=1-s2.0-S1521692624000057-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139936223","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}
{"title":"Corrigendum to “Designing and conducting a clinical trial in blood and marrow transplantation” [Best Pract Res Clin Haematol 36 (2023) 101471]","authors":"Michael J. Martens , Yan Gao , Aniko Szabo","doi":"10.1016/j.beha.2024.101538","DOIUrl":"10.1016/j.beha.2024.101538","url":null,"abstract":"","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"37 1","pages":"Article 101538"},"PeriodicalIF":2.1,"publicationDate":"2024-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521692624000033/pdfft?md5=c0e259ee94c446fc36e1d9f7be40dc0e&pid=1-s2.0-S1521692624000033-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139666780","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}
Amy M. Trottier , Simone Feurstein , Lucy A. Godley
{"title":"Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders","authors":"Amy M. Trottier , Simone Feurstein , Lucy A. Godley","doi":"10.1016/j.beha.2024.101537","DOIUrl":"10.1016/j.beha.2024.101537","url":null,"abstract":"<div><p>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 (<em>e.g., CEBPA</em>, <em>GATA2</em>, <em>SAMD9/SAMD9L</em>, and <em>TP53</em>) versus variable malignant penetrance syndromes (<em>e.g., ANKRD26</em>, <em>DDX41</em>, <em>ETV6</em>, <em>RUNX1</em>, 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.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"37 1","pages":"Article 101537"},"PeriodicalIF":2.1,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521692624000021/pdfft?md5=434924e2890f256b2ed74257036368bf&pid=1-s2.0-S1521692624000021-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139666788","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":"2024-01-27","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}