Current Research in Translational Medicine最新文献_第6页

Cytogenetics in the management of acute myeloid leukemia and histiocytic/dendritic cell neoplasms: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH) 细胞遗传学在急性髓系白血病和组织细胞/树突状细胞肿瘤治疗中的应用:来自法语细胞组织(GFCH)的指南

IF 4.1 4区医学

Current Research in Translational Medicine Pub Date : 2023-10-01 DOI: 10.1016/j.retram.2023.103421

Audrey Bidet , Julie Quessada , Wendy Cuccuini , Matthieu Decamp , Marina Lafage-Pochitaloff , Isabelle Luquet , Christine Lefebvre , Giulia Tueur , Groupe Francophone de Cytogénétique Hématologique (GFCH)

{"title":"Cytogenetics in the management of acute myeloid leukemia and histiocytic/dendritic cell neoplasms: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH)","authors":"Audrey Bidet , Julie Quessada , Wendy Cuccuini , Matthieu Decamp , Marina Lafage-Pochitaloff , Isabelle Luquet , Christine Lefebvre , Giulia Tueur , Groupe Francophone de Cytogénétique Hématologique (GFCH)","doi":"10.1016/j.retram.2023.103421","DOIUrl":"10.1016/j.retram.2023.103421","url":null,"abstract":"<div><p>Genetic data are becoming increasingly essential in the management of hematological neoplasms as shown by two classifications published in 2022: the 5th edition of the World Health Organization Classification of Hematolymphoid Tumours and the International Consensus Classification of Myeloid Neoplasms and Acute Leukemias. Genetic data are particularly important for acute myeloid leukemias (AMLs) because their boundaries with myelodysplastic neoplasms seem to be gradually blurring. The first objective of this review is to present the latest updates on the most common cytogenetic abnormalities in AMLs while highlighting the pitfalls and difficulties that can be encountered in the event of cryptic or difficult-to-detect karyotype abnormalities. The second objective is to enhance the role of cytogenetics among all the new technologies available in 2023 for the diagnosis and management of AML.</p></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"71 4","pages":"Article 103421"},"PeriodicalIF":4.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135810243","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

Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH) 骨髓衰竭综合征管理中的细胞遗传学:来自法语细胞组织(GFCH)的指南。

IF 4.1 4区医学

Current Research in Translational Medicine Pub Date : 2023-10-01 DOI: 10.1016/j.retram.2023.103423

Wendy Cuccuini , Marie-Agnes Collonge-Rame , Nathalie Auger , Nathalie Douet-Guilbert , Lucie Coster , Marina Lafage-Pochitaloff

{"title":"Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH)","authors":"Wendy Cuccuini , Marie-Agnes Collonge-Rame , Nathalie Auger , Nathalie Douet-Guilbert , Lucie Coster , Marina Lafage-Pochitaloff","doi":"10.1016/j.retram.2023.103423","DOIUrl":"10.1016/j.retram.2023.103423","url":null,"abstract":"<div><p>Bone marrow failure syndromes are rare disorders characterized by bone marrow hypocellularity and resultant peripheral cytopenias. The most frequent form is acquired, so-called aplastic anemia or idiopathic aplastic anemia, an auto-immune disorder frequently associated with paroxysmal nocturnal hemoglobinuria, whereas inherited bone marrow failure syndromes are related to pathogenic germline variants. Among newly identified germline variants, <em>GATA2</em> deficiency and <em>SAMD9/9L</em> syndromes have a special significance. Other germline variants impacting biological processes, such as DNA repair, telomere biology, and ribosome biogenesis, may cause major syndromes including Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome. Bone marrow failure syndromes are at risk of secondary progression towards myeloid neoplasms in the form of myelodysplastic neoplasms or acute myeloid leukemia. Acquired clonal cytogenetic abnormalities may be present before or at the onset of progression; some have prognostic value and/or represent somatic rescue mechanisms in inherited syndromes. On the other hand, the differential diagnosis between aplastic anemia and hypoplastic myelodysplastic neoplasm remains challenging. Here we discuss the value of cytogenetic abnormalities in bone marrow failure syndromes and propose recommendations for cytogenetic diagnosis and follow-up.</p></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"71 4","pages":"Article 103423"},"PeriodicalIF":4.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135849359","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

Cytogenetics in the management of multiple Myeloma: The guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH) 细胞遗传学在多发性骨髓瘤治疗中的应用:来自法语细胞病组织(GFCH)的指南

IF 4.1 4区医学

Current Research in Translational Medicine Pub Date : 2023-10-01 DOI: 10.1016/j.retram.2023.103427

Agnès Daudignon , Wendy Cuccuini , Claire Bracquemart , Catherine Godon , Benoit Quilichini , Dominique Penther

{"title":"Cytogenetics in the management of multiple Myeloma: The guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH)","authors":"Agnès Daudignon , Wendy Cuccuini , Claire Bracquemart , Catherine Godon , Benoit Quilichini , Dominique Penther","doi":"10.1016/j.retram.2023.103427","DOIUrl":"10.1016/j.retram.2023.103427","url":null,"abstract":"<div><p><span>Multiple myeloma<span><span> (MM) is characterized by the accumulation of malignant plasma cells (PCs) in the bone marrow. Despite considerable advances in the treatment, MM is considered an incurable chronic disease with a very heterogeneous prognosis, mostly depending on genomic alterations whose complexity evolves over time. The </span>cytogenetic analysis of MM is performed on CD138+ sorted PCs, in order to detect the following high risk cytogenetic abnormalities: t(4;14), 17p/</span></span><em>TP53</em><span> deletion, 1q21 gain/amplification, 1p32 deletion, as well as t(11;14) because of its therapeutic implication. This minimal panel can be enlarged to detect other recurrent abnormalities, according to the prognostic score chosen by the laboratory. Although the knowledge of the genetic landscape of MM is evolving rapidly with improved molecular technologies, risk scores remain to be refined as they require more time for consensual validation. The GFCH present here the overview of genomics alterations identified in MM and related PCs diseases associated with their prognostic factor, when available, and recommendations from an expert group for identification and characterization of those alterations. This work is the update of previous 2016 recommendations.</span></p></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"71 4","pages":"Article 103427"},"PeriodicalIF":4.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136059876","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

Cytogenetics in the management of mature T-cell and NK-cell neoplasms: Guidelines from the groupe francophone de cytogénétique hématologique (GFCH) 成熟t细胞和nk细胞肿瘤的细胞遗传学治疗:来自法语细胞组织(GFCH)的指南

IF 4.1 4区医学

Current Research in Translational Medicine Pub Date : 2023-10-01 DOI: 10.1016/j.retram.2023.103428

Jean-Baptiste Gaillard , Elise Chapiro , Agnès Daudignon , Nathalie Nadal , Dominique Penther , Jasmine Chauzeix , Florence Nguyen-Khac , Lauren Veronese , Christine Lefebvre

{"title":"Cytogenetics in the management of mature T-cell and NK-cell neoplasms: Guidelines from the groupe francophone de cytogénétique hématologique (GFCH)","authors":"Jean-Baptiste Gaillard , Elise Chapiro , Agnès Daudignon , Nathalie Nadal , Dominique Penther , Jasmine Chauzeix , Florence Nguyen-Khac , Lauren Veronese , Christine Lefebvre","doi":"10.1016/j.retram.2023.103428","DOIUrl":"10.1016/j.retram.2023.103428","url":null,"abstract":"<div><p>Mature T-cell and natural killer (NK)-cell neoplasms (MTNKNs) are a highly heterogeneous group of lymphomas that represent 10–15 % of lymphoid neoplasms and have usually an aggressive behavior. Diagnosis can be challenging due to their overlapping clinical, histological and immunophenotypic features. Genetic data are not a routine component of the diagnostic algorithm for most MTNKNs. Indeed, unlike B-cell lymphomas, the genomic landscape of MTNKNs is not fully understood. Only few characteristic rearrangements can be easily identified with conventional cytogenetic methods and are an integral part of the diagnostic criteria, for instance the t(14;14)/inv(14) or t(X;14) abnormality harbored by 95 % of patients with T-cell prolymphocytic leukemia, or the <em>ALK</em> gene translocation observed in some forms of anaplastic large cell lymphoma. However, advances in molecular and cytogenetic techniques have brought new insights into MTNKN pathogenesis. Several recurrent genetic alterations have been identified, such as chromosomal losses involving tumor suppressor genes (<em>SETD2, CDKN2A, TP53</em>) and gains involving oncogenes (<em>MYC</em>), activating mutations in signaling pathways (JAK-STAT, RAS), and epigenetic dysregulation, that have improved our understanding of these pathologies. This work provides an overview of the cytogenetics knowledge in MTNKNs in the context of the new World Health Organization classification and the International Consensus Classification of hematolymphoid tumors. It describes key genetic alterations and their clinical implications. It also proposes recommendations on cytogenetic methods for MTNKN diagnosis.</p></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"71 4","pages":"Article 103428"},"PeriodicalIF":4.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136153869","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

Cytogenetics in the management of B-cell acute lymphoblastic leukemia: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH) 细胞遗传学在b细胞急性淋巴细胞白血病治疗中的应用:来自法语细胞学组织(GFCH)的指南

IF 4.1 4区医学

Current Research in Translational Medicine Pub Date : 2023-10-01 DOI: 10.1016/j.retram.2023.103434

Giulia Tueur , Julie Quessada , Jolien De Bie , Wendy Cuccuini , Saloua Toujani , Christine Lefebvre , Isabelle Luquet , Lucienne Michaux , Marina Lafage-Pochitaloff

{"title":"Cytogenetics in the management of B-cell acute lymphoblastic leukemia: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH)","authors":"Giulia Tueur , Julie Quessada , Jolien De Bie , Wendy Cuccuini , Saloua Toujani , Christine Lefebvre , Isabelle Luquet , Lucienne Michaux , Marina Lafage-Pochitaloff","doi":"10.1016/j.retram.2023.103434","DOIUrl":"https://doi.org/10.1016/j.retram.2023.103434","url":null,"abstract":"<div><p>Cytogenetic analysis is mandatory at initial assessment of B-cell acute lymphoblastic leukemia (B-ALL) due to its diagnostic and prognostic value. Results from chromosome banding analysis and complementary FISH are taken into account in therapeutic protocols and further completed by other techniques (RT-PCR, SNP-array, MLPA, NGS, OGM). Indeed, new genomic entities have been identified by NGS, mostly RNA sequencing, such as Ph-like ALL that can benefit from targeted therapy.</p><p>Here, we have attempted to establish cytogenetic guidelines by reviewing the most recent published data including the novel 5th World Health Organization and International Consensus Classifications. We also focused on newly described cytogenomic entities and indicate alternative diagnostic tools such as NGS technology, as its importance is vastly increasing in the diagnostic setting.</p></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"71 4","pages":"Article 103434"},"PeriodicalIF":4.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138502016","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

Cytogenetics in the management of clonal chromosomal abnormalities of undetermined significance and persistent polyclonal B-cell lymphocytosis: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH) 细胞遗传学在治疗意义不明的克隆性染色体异常和持续性多克隆b细胞淋巴细胞增多症中的应用:来自法语细胞组织(GFCH)的指南

IF 4.1 4区医学

Current Research in Translational Medicine Pub Date : 2023-10-01 DOI: 10.1016/j.retram.2023.103426

N. Nadal , N. Auger , A. Bidet , F. Nguyen-Khac

引用次数: 0

Cytogenetics in the management of T-cell acute lymphoblastic leukemia (T-ALL): Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH) 细胞遗传学在t细胞急性淋巴细胞白血病(T-ALL)治疗中的应用:来自法语细胞病学组织(GFCH)的指南

IF 4.1 4区医学

Current Research in Translational Medicine Pub Date : 2023-10-01 DOI: 10.1016/j.retram.2023.103431

Jolien De Bie , Julie Quessada , Giulia Tueur , Christine Lefebvre , Isabelle Luquet , Saloua Toujani , Wendy Cuccuini , Marina Lafage-Pochitaloff , Lucienne Michaux

{"title":"Cytogenetics in the management of T-cell acute lymphoblastic leukemia (T-ALL): Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH)","authors":"Jolien De Bie , Julie Quessada , Giulia Tueur , Christine Lefebvre , Isabelle Luquet , Saloua Toujani , Wendy Cuccuini , Marina Lafage-Pochitaloff , Lucienne Michaux","doi":"10.1016/j.retram.2023.103431","DOIUrl":"https://doi.org/10.1016/j.retram.2023.103431","url":null,"abstract":"<div><p>Molecular analysis is the hallmark of T-cell acute lymphoblastic leukemia (T-ALL) categorization. Several T-ALL sub-groups are well recognized based on the aberrant expression of specific transcription factors. This recently resulted in the implementation of eight provisional T-ALL entities into the novel 2022 International Consensus Classification, albeit not into the updated World Health Organization classification system.</p><p>Despite this extensive molecular characterization, cytogenetic analysis remains the backbone of T-ALL diagnosis in many countries as chromosome banding analysis and fluorescence in situ hybridization are relatively inexpensive techniques to obtain results of diagnostic, prognostic and therapeutic interest.</p><p>Here, we provide an overview of recurrent chromosomal abnormalities detectable in T-ALL patients and propose guidelines regarding their detection. By referring in parallel to the more general molecular classification approach, we hope to offer a diagnostic framework useful in a broad clinical genetic setting.</p></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"71 4","pages":"Article 103431"},"PeriodicalIF":4.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138448111","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

Cytogenetic abnormalities in hematologic neoplasms with germline predisposition 有种系倾向的血液系统肿瘤的细胞遗传学异常。

IF 4.1 4区医学

Current Research in Translational Medicine Pub Date : 2023-10-01 DOI: 10.1016/j.retram.2023.103416

Nathalie Gachard , Marina Lafage-Pochitaloff , Julie Quessada , Nathalie Auger , Marie-Agnès Collonge-Rame

{"title":"Cytogenetic abnormalities in hematologic neoplasms with germline predisposition","authors":"Nathalie Gachard , Marina Lafage-Pochitaloff , Julie Quessada , Nathalie Auger , Marie-Agnès Collonge-Rame","doi":"10.1016/j.retram.2023.103416","DOIUrl":"10.1016/j.retram.2023.103416","url":null,"abstract":"<div><p>The number of predisposing genes is continuously growing with the widespread availability of DNA sequencing, increasing the prevalence of hematologic malignancies with germline predisposition. Cytogenetic analyses provide an effective approach for the recognition of these malignancies with germline predisposition, which is critical for proper diagnosis, optimal treatment and genetic counseling.</p><p>Based on the World Health Organization and the international consensus classifications as well as the European LeukemiaNet recommendations, this review first presents an advanced classification of neoplasms with germline predisposition focused on the acquired cytogenetic alterations during leukemogenesis.</p><p>The various genetic rescue mechanisms and the progression to transformation are then explained. The review also outlines the specific constitutional and somatic cytogenetic aberrations indicative of germline predisposition disorders in B-acute lymphoblastic leukemia (ALL), T-ALL, bone marrow failure syndrome and myeloid neoplasms. An emphasis is made on monosomy 7 in the predisposition field, its frequency and diagnosis impact as well as its various circumstances of occurrence. Lastly, we propose cytogenetic technical recommendations and guidelines for clinical reporting of these specific aberrations.</p></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"71 4","pages":"Article 103416"},"PeriodicalIF":4.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49693877","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

Cytogenetics in the management of chronic lymphocytic leukemia: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH) 细胞遗传学在慢性淋巴细胞白血病治疗中的应用:来自法语细胞组织(GFCH)的指南

IF 4.1 4区医学

Current Research in Translational Medicine Pub Date : 2023-10-01 DOI: 10.1016/j.retram.2023.103410

Florence Nguyen-Khac , Zsofia Balogh , Jasmine Chauzeix , Lauren Veronese , Elise Chapiro

引用次数: 0

Cytogenetics in the management of hematological malignancies: Guidelines from the Groupe Francophone de Cytogénétique Hématologique 恶性血液病管理中的细胞遗传学:来自法语细胞组织的指南

IF 4.1 4区医学

Current Research in Translational Medicine Pub Date : 2023-10-01 DOI: 10.1016/j.retram.2023.103411

Florence Nguyen-Khac , Audrey Bidet , Elise Chapiro , Christine Lefebvre , Lucienne Michaux , Marie-Bérengère Troadec

引用次数: 0