Best Practice & Research Clinical Haematology最新文献

{"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":"2024-03-01","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}

{"title":"Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders","authors":"Amy M. Trottier ,&nbsp;Simone Feurstein ,&nbsp;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":"2024-03-01","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}

{"title":"Corrigendum to “Endpoint selection and evaluation in hematology studies” [Best Pract Res Clin Haematol 36 (2023) 101479]","authors":"Ruta Brazauskas ,&nbsp;Mary Eapen ,&nbsp;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":"2024-03-01","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":"The Australian Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry","authors":"Lucy C. Fox ,&nbsp;Zoe K. McQuilten ,&nbsp;Frank Firkin ,&nbsp;Vanessa Fox ,&nbsp;Xavier Badoux ,&nbsp;Ashish Bajel ,&nbsp;Pasquale Barbaro ,&nbsp;Merrole F. Cole-Sinclair ,&nbsp;Cecily Forsyth ,&nbsp;John Gibson ,&nbsp;Devendra K. Hiwase ,&nbsp;Anna Johnston ,&nbsp;Anthony Mills ,&nbsp;Fernando Roncolato ,&nbsp;Robyn Sutherland ,&nbsp;Jeff Szer ,&nbsp;Stephen B. Ting ,&nbsp;Shahla Vilcassim ,&nbsp;Lauren Young ,&nbsp;Neil A. Waters ,&nbsp;Erica M. Wood","doi":"10.1016/j.beha.2023.101516","DOIUrl":"https://doi.org/10.1016/j.beha.2023.101516","url":null,"abstract":"<div><p>The bone marrow failure syndromes (BMFS) are a diverse group of acquired and inherited diseases which may manifest in cytopenias, haematological malignancy and/or syndromic multisystem disease. Patients with BMFS frequently experience poor outcomes, and improved treatment strategies are needed. Collation of clinical characteristics and patient outcomes in a national disease-specific registry represents a powerful tool to identify areas of need and support clinical and research collaboration. Novel treatment strategies such as gene therapy, particularly in rare diseases, will depend on the ability to identify eligible patients alongside the molecular genetic features of their disease that may be amenable to novel therapy. The Australian Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry (AAR) aims to improve outcomes for all paediatric and adult patients with BMFS in Australia by describing the demographics, treatments (including supportive care) and outcomes, and serving as a resource for research and practice improvement.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"36 4","pages":"Article 101516"},"PeriodicalIF":2.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521692623000774/pdfft?md5=43482c7a15f293fa7591c9b94fa27199&pid=1-s2.0-S1521692623000774-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91987013","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":"The role of randomized controlled trials, registries, observational databases in evaluating new interventions","authors":"Robert Peter Gale ,&nbsp;Mei-Jie Zhang ,&nbsp;Hillard M. Lazarus","doi":"10.1016/j.beha.2023.101523","DOIUrl":"https://doi.org/10.1016/j.beha.2023.101523","url":null,"abstract":"<div><p>Approaches to comparing safety and efficacy of interventions include analyzing data from randomized controlled trials (RCTs), registries and observational databases (ODBs). RCTs are regarded as the <em>gold standard</em> but data from such trials are sometimes unavailable because a disease is uncommon, because the intervention is uncommon, because of structural limitations or because randomization cannot be done for practical or (seemingly) ethical reasons. There are many examples of an unproved intervention being so widely-believed to be effective that clinical trialists and potential subjects decline randomization. Often, when a RCT is finally done the intervention is proved ineffective or even harmful. These situations are termed <em>medical reversals</em> and are not uncommon [1,2]. There is also the dilemma of when seemingly similar RCTs report discordant conclisions</p><p>Data from high-quality registries, especially ODBs can be used when data from RCTs are unavailable but also have limitations. Biases and confounding co-variates may be unknown, difficult or impossible to identify and/or difficult to adjust for adequately. However, ODBs sometimes have large numbers of diverse subjects and often give answers more useful to clinicians than RCTs. Side-by-side comparisons suggest analyses from high-quality ODBs often give similar conclusions from high quality RCTs. Meta-analyses combining data from RCTs, registries and ODBs are sometimes appropriate. We suggest increased use of registries and ODBs to compare efficacy of interventions.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"36 4","pages":"Article 101523"},"PeriodicalIF":2.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521692623000841/pdfft?md5=a796816b4a1c3b921a354e3bc9ade39d&pid=1-s2.0-S1521692623000841-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92046023","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":"Progress and challenges in the acute leukemia field","authors":"Daniel A. Pollyea","doi":"10.1016/j.beha.2023.101524","DOIUrl":"10.1016/j.beha.2023.101524","url":null,"abstract":"","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"36 4","pages":"Article 101524"},"PeriodicalIF":2.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135510052","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":"Hodgkin lymphoma: Focus on evolving treatment paradigms","authors":"Joseph L. Roswarski ,&nbsp;Dan L. Longo","doi":"10.1016/j.beha.2023.101510","DOIUrl":"https://doi.org/10.1016/j.beha.2023.101510","url":null,"abstract":"<div><p><span><span>Hodgkin lymphoma (HL) is a highly curable B-cell </span>malignancy<span> of germinal center origin. Biologically it is a </span></span>hematologic malignancy<span> that is highly dependent on the immune microenvironment and utilizes immune escape through upregulation of the programmed-death ligands on the neoplastic cells. Despite being highly curable, consensus is lacking nationally and internationally about the optimal approach to management, particularly in limited-stage disease. The addition of brentuximab vedotin<span> and checkpoint inhibitors for the management of HL has led to a rapidly changing treatment landscape. Further studies should be done to include these novel agents at all stages of disease to determine improvements in frontline cure rates and long-term toxicity.</span></span></p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"36 4","pages":"Article 101510"},"PeriodicalIF":2.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91987019","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":"Asparaginase dosing for obese patients with acute lymphoblastic leukemia and factors that contribute to outcomes","authors":"Ryan D. Cassaday","doi":"10.1016/j.beha.2023.101519","DOIUrl":"https://doi.org/10.1016/j.beha.2023.101519","url":null,"abstract":"<div><p><span>Asparaginase<span><span> in various forms is a standard part of the treatment of </span>acute lymphoblastic leukemia (ALL) in children and adolescents. However, its use is more selective in adults. One of the key reasons is the toxicity observed from this class of agents. In a series of recent </span></span><em>post hoc</em><span> analyses of large prospective studies, obesity has emerged as a key factor that contributes to the challenges with administering regimens that include asparaginase. In this review, the most salient findings are highlighted from these latest publications, both from the pediatric and adult literature. These data are consolidated into recommendations for clinicians who treat adults with ALL, including proposals for how treatment may be modified to try to account for these complications. Lastly, avenues for future investigation are proposed in an attempt to narrow our knowledge gaps in this field, with the goal of safer and more effective treatment for adults with obesity who develop ALL.</span></p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"36 4","pages":"Article 101519"},"PeriodicalIF":2.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91987015","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":"Hodgkin Lymphoma: A disease shaped by the tumor micro- and macroenvironment","authors":"Rebecca Masel ,&nbsp;Megan E. Roche ,&nbsp;Ubaldo Martinez-Outschoorn","doi":"10.1016/j.beha.2023.101514","DOIUrl":"https://doi.org/10.1016/j.beha.2023.101514","url":null,"abstract":"<div><p><span><span><span><span><span>The tumor microenvironment<span> (TMicroE) and tumor macroenvironment (TMacroE) are defining features of classical Hodgkin lymphoma (cHL). They are of critical importance to clinicians since they explain the common signs and symptoms, allow us to classify these neoplasms, develop prognostic and predictive biomarkers, bioimaging and novel </span></span>treatments<span>. The TMicroE is defined by effects of cancer cells<span> to their immediate surrounding and within the tumor. Effects of cancer cells at a distance or outside of the tumor define the TMacroE. Paraneoplastic syndromes are signs and symptoms due to effects of cancer at a distance or the TMacroE, which are not due to direct cancer cell infiltration. The most common paraneoplastic symptoms are B-symptoms, which manifest as fevers, chills, drenching night sweats, and/or weight loss. Less common paraneoplastic syndromes include those that affect the </span></span></span>central nervous system<span><span>, skin, kidney, and hematological autoimmune phenomena including hemophagocytic lymphohistiocytosis (HLH). Paraneoplastic signs such as </span>leukocytosis<span>, lymphopenia, anemia, and </span></span></span>hypoalbuminemia<span> are prognostic biomarkers. The neoplastic cells in cHL are the Hodgkin and Reed Sternberg (HRS) cells, which are preapoptotic germinal center B cells with a high mutational burden and almost universal </span></span>genetic alterations<span><span><span> at the 9p24.1 locus primarily through copy gain and amplification with strong activation of signaling via PD-L1, JAK-STAT, NFkB, and c-MYC. In the majority of cases of cHL over 95% of the tumor cells are non-neoplastic. In the TMicroE, HRS cells recruit and mold non-neoplastic cells vigorously via extracellular vesicles, </span>chemokines, cytokines and growth factors such as </span>CCL5<span><span>, CCL17, IL6, and TGF-β to promote a feed-forward inflammatory loop, which drives cancer aggressiveness and anti-cancer immune evasion. Novel single cell profiling techniques provide critical information on the role in cHL of monocytes-macrophages, </span>neutrophils, T helper, Tregs, cytotoxic CD8</span></span></span>⁺<span><span> T cells, </span>eosinophils<span>, mast cells and fibroblasts. Here, we summarize the effects of EBV on the TMicroE and TMacroE. In addition, how the metabolism of the TMicroE of cHL affects bioimaging and contributes to cancer aggressiveness is reviewed. Finally, we discuss how the TMicroE is being leveraged for risk adapted treatment strategies based on bioimaging results and novel immune therapies. In sum, it is clear that we cannot effectively manage patients with cHL without understanding the TMicroE and TMacroE and its clinical importance is expected to continue to grow rapidly.</span></span></p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"36 4","pages":"Article 101514"},"PeriodicalIF":2.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49716001","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":"WHO, what, when, where, and why: New classification systems for acute myeloid leukemia and their impact on clinical practice","authors":"Frederick R. Appelbaum","doi":"10.1016/j.beha.2023.101518","DOIUrl":"10.1016/j.beha.2023.101518","url":null,"abstract":"<div><p><span>The goal of a disease classification<span><span> system is (or should be) to provide a tool for researchers and clinicians to study and treat the disease. The last decade has seen a markedly improved understanding of the pathophysiology of </span>acute myeloid leukemia<span><span> (AML), the development of new methods to measure the disease, and approval by the Food and Drug Administration (FDA) of at least ten new therapies targeted to its </span>treatment. In response, in 2022 one updated and one new AML classification system were published. In the same year, the European LeukemiaNet updated their recommendations about how to incorporate the advances in diagnosis and treatment into the </span></span></span>risk stratification of AML and its treatment. The following discussion summarizes the highlights of these changes and offers an opinion of how well these changes meet the goal of aiding researchers and clinicians in the study and treatment of AML.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"36 4","pages":"Article 101518"},"PeriodicalIF":2.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135962875","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}