Best Practice & Research Clinical Haematology最新文献_第7页

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

Best Practice & Research Clinical Haematology Pub Date : 2024-02-01 DOI: 10.1016/j.beha.2024.101537

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}

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

Best Practice & Research Clinical Haematology 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

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

Best Practice & Research Clinical Haematology 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

{"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":"2023-12-10","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}

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

Best Practice & Research Clinical Haematology Pub Date : 2023-12-01 DOI: 10.1016/j.beha.2023.101525

Stephanie M. Wong

{"title":"Best practice & research clinical haematology: Screening for breast cancer in hodgkin lymphoma survivors","authors":"Stephanie M. Wong","doi":"10.1016/j.beha.2023.101525","DOIUrl":"https://doi.org/10.1016/j.beha.2023.101525","url":null,"abstract":"<div><p><span><span><span><span><span>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 </span>treatment. Although incidence varies according to age at radiation exposure, dosage, and treatment fields, </span>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 </span>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 </span>malignancy<span>, evidence supports consideration of unilateral therapeutic and contralateral<span><span> prophylactic mastectomy, although </span>breast conserving surgery may be considered following multidisciplinary assessment. This review will address the </span></span></span>epidemiology, characteristics, screening and management guidelines, and breast-cancer prevention efforts for Hodgkin lymphoma survivors treated with radiation therapy in adolescence and young adulthood.</p></div>","PeriodicalId":8744,"journal":{"name":"Best Practice & Research Clinical Haematology","volume":"36 4","pages":"Article 101525"},"PeriodicalIF":2.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138474992","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}

引用次数: 0

Progress and challenges in the acute leukemia field 急性白血病领域的进展与挑战

IF 2.1 4区医学

Best Practice & Research Clinical Haematology Pub Date : 2023-11-07 DOI: 10.1016/j.beha.2023.101524

Daniel A. Pollyea

引用次数: 0

The role of randomized controlled trials, registries, observational databases in evaluating new interventions 随机对照试验、登记、观察性数据库在评估新干预措施中的作用

IF 2.1 4区医学

Best Practice & Research Clinical Haematology Pub Date : 2023-10-31 DOI: 10.1016/j.beha.2023.101523

Robert Peter Gale , Mei-Jie Zhang , Hillard M. Lazarus

{"title":"The role of randomized controlled trials, registries, observational databases in evaluating new interventions","authors":"Robert Peter Gale , Mei-Jie Zhang , 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":"2023-10-31","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}

引用次数: 0

The international cooperative Gaucher group (ICCG) Gaucher registry 国际合作戈歇组织(ICCG)戈歇注册

IF 2.1 4区医学

Best Practice & Research Clinical Haematology Pub Date : 2023-10-31 DOI: 10.1016/j.beha.2023.101522

Neal J. Weinreb

引用次数: 0

The Australian Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry 澳大利亚再生障碍性贫血和其他骨髓衰竭综合征登记处

IF 2.1 4区医学

Best Practice & Research Clinical Haematology Pub Date : 2023-10-23 DOI: 10.1016/j.beha.2023.101516

Lucy C. Fox , Zoe K. McQuilten , Frank Firkin , Vanessa Fox , Xavier Badoux , Ashish Bajel , Pasquale Barbaro , Merrole F. Cole-Sinclair , Cecily Forsyth , John Gibson , Devendra K. Hiwase , Anna Johnston , Anthony Mills , Fernando Roncolato , Robyn Sutherland , Jeff Szer , Stephen B. Ting , Shahla Vilcassim , Lauren Young , Neil A. Waters , Erica M. Wood

{"title":"The Australian Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry","authors":"Lucy C. Fox , Zoe K. McQuilten , Frank Firkin , Vanessa Fox , Xavier Badoux , Ashish Bajel , Pasquale Barbaro , Merrole F. Cole-Sinclair , Cecily Forsyth , John Gibson , Devendra K. Hiwase , Anna Johnston , Anthony Mills , Fernando Roncolato , Robyn Sutherland , Jeff Szer , Stephen B. Ting , Shahla Vilcassim , Lauren Young , Neil A. Waters , 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":"2023-10-23","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}

引用次数: 0

WHO, what, when, where, and why: New classification systems for acute myeloid leukemia and their impact on clinical practice WHO, What, When, Where, and Why:急性髓性白血病的新分类系统及其对临床实践的影响

IF 2.1 4区医学

Best Practice & Research Clinical Haematology Pub Date : 2023-10-20 DOI: 10.1016/j.beha.2023.101518

Frederick R. Appelbaum

引用次数: 0

The best GVHD prophylaxis: Or at least progress towards finding it 最好的GVHD预防方法:或者至少朝着找到它的方向前进

IF 2.1 4区医学

Best Practice & Research Clinical Haematology Pub Date : 2023-10-20 DOI: 10.1016/j.beha.2023.101520

Daniel Weisdorf , Najla El Jurdi , Shernan G. Holtan

引用次数: 0