Best Practice & Research Clinical Haematology最新文献_第3页

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

Best Practice & Research Clinical Haematology Pub Date : 2024-04-03 DOI: 10.1016/j.beha.2024.101552

Hans H. Kreipe , Brigitte Schlegelberger

{"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}

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

Best Practice & Research Clinical Haematology 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

{"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}

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

Best Practice & Research Clinical Haematology Pub Date : 2024-03-01 DOI: 10.1016/j.beha.2024.101541

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}

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

Best Practice & Research Clinical Haematology Pub Date : 2024-03-01 DOI: 10.1016/j.beha.2024.101539

Yvonne Lisa Behrens , Stefan Pietzsch , Željko Antić , Yanming Zhang , Anke K. Bergmann

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

Best Practice & Research Clinical Haematology Pub Date : 2024-02-23 DOI: 10.1016/j.beha.2024.101540

Ruta Brazauskas , Mary Eapen , Tao Wang

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

Best Practice & Research Clinical Haematology Pub Date : 2024-02-02 DOI: 10.1016/j.beha.2024.101538

Michael J. Martens , Yan Gao , Aniko Szabo

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

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