Current Research in Translational Medicine最新文献

{"title":"Investigating the multifaceted cooperation of autophagy, PI3K/AKT signaling pathways, and INPP4B gene in de novo acute myeloid leukemia patients","authors":"Mahnaz Gorji ,&nbsp;Mehdi Allahbakhshian Farsani ,&nbsp;Maryam Kargar ,&nbsp;Javad Garavand ,&nbsp;Mohammad Hossein Mohammadi","doi":"10.1016/j.retram.2023.103429","DOIUrl":"10.1016/j.retram.2023.103429","url":null,"abstract":"<div><h3>Background</h3><p><span><span>Acute myeloid leukemia (AML) has been the most prevalent form of </span>acute leukemia<span> among adults, and it has been associated with poor survival rates over the last four decades. Understanding the processes involved in leukemogenesis<span>, particularly autophagy and signaling pathways, can provide critical insights into their roles in disease development, risk assessment, and potential therapeutic interventions. This study investigated gene expression changes, focusing on </span></span></span><em>MAP1LC3B</em> and <em>BECN1</em>, related to autophagy, as well as <em>PI3KCA</em> and <em>AKT1</em> in the PI3K-AKT pathway, and <em>INPP4B</em>, which regulates this signaling cascade.</p></div><div><h3>Methods</h3><p><span>We collected blood samples from 21 AML patients and 9 healthy volunteers. Gene expression was analyzed through qPCR following RNA extraction<span> and cDNA synthesis. Statistical analysis encompassed </span></span><em>t</em>-tests, ANOVA, and correlation coefficients.</p></div><div><h3>Results</h3><p>AML patients exhibited significantly increased <em>MAP1LC3B</em> gene expression (****<em>P</em> &lt; 0.0001; fold change = 11.9) and significantly reduced levels of <em>INPP4B</em> (****<em>P</em> &lt; 0.0001; fold change = 0.026), <em>AKT1</em> (*<em>P</em> &lt; 0.05; fold change = 0.59), and <em>PI3KCA</em> (****<em>P</em> &lt; 0.0001; fold change = 0.16) compared to healthy controls. However, <em>BECN1</em> gene expression did not significantly differ between the two groups. Additionally, noteworthy correlations were observed between <em>INPP4B</em> and <em>BECN1</em> (<em>r</em> = 0.57; <em>P</em> = 0.006) and <em>BECN1</em> and <em>PI3KCA</em> (<em>r</em> = 0.61; <em>P</em> = 0.003) in AML patients.</p></div><div><h3>Conclusions</h3><p>This study highlights variations in leukemogenesis pathways, exemplified by increased <em>MAP1LC3B</em> expression and diminished expression of regulatory genes in specific AML cases. These findings contribute to our comprehension of the molecular mechanisms underlying AML and may inform future diagnostic and therapeutic approaches.</p></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"72 2","pages":"Article 103429"},"PeriodicalIF":4.1,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135220913","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":"Oral minocycline as systemic therapy for uncomplicated venous access device-related bloodstream infection with coagulase-negative staphylococci after allogeneic hematopoietic cell transplantation","authors":"Firas Bayoudh ,&nbsp;Jean-Baptiste Giot ,&nbsp;Julie Descy ,&nbsp;Corentin Fontaine ,&nbsp;Marie-Pierre Hayette ,&nbsp;Frédéric Baron ,&nbsp;Evelyne Willems ,&nbsp;Yves Beguin ,&nbsp;Frédéric Frippiat ,&nbsp;Sophie Servais","doi":"10.1016/j.retram.2023.103422","DOIUrl":"10.1016/j.retram.2023.103422","url":null,"abstract":"<div><h3>Background</h3><p>Venous access device-related bloodstream infection (VAD-BSI) with coagulase-negative staphylococci (CoNS) is a common complication after allogeneic hematopoietic cell transplantation (alloHCT). Standard systemic antimicrobial therapy for uncomplicated VAD-BSI with methicillin-resistant CoNS consists of intravenous (IV) vancomycin (vanco). This requires hospitalization, needs new competent venous access, exposes patients to potential toxicity (mainly renal) and increases the risk of commensal flora dysbiosis with selection of vanco-resistant enterococci. Combined with VAD management (removal or antibiotic locks), oral minocycline (mino) has been evaluated as an alternative systemic therapy for the treatment of uncomplicated VAD-BSIs with CoNS at our center, primarily when the reference treatment with IV vanco was not possible (renal failure or allergy) or when hospitalization was refused by patients. Here, we retrospectively report our single center experience with this mino-based approach.</p></div><div><h3>Patients and methods</h3><p>From January 2012 to December 2020, 24 uncomplicated VAD-BSIs with CoNS in 23 alloHCT patients were treated with oral mino as systemic antibiotic therapy in combination with VAD management. VAD were implantable ports (<em>n</em> = 17), tunneled catheter (<em>n</em> = 1) or PIC-lines (<em>n</em> = 6). Staphylococci were <em>S. epidermidis</em> (<em>n</em> = 21) or <em>S. haemolyticus</em> (<em>n</em> = 3). Mino was administered with a loading dose of 200 mg followed by 100 mg BID for 7–14 days. For 8 VAD-BSIs, patients were initially treated with IV vanco for the first 1–3 days followed by oral mino, while 16 VAD-BSIs were treated with oral mino as the sole antimicrobial agent for systemic therapy. VAD management consisted of catheter removal (for tunneled catheters and PIC-lines, <em>n</em> = 7) or antibiotic locks with vanco (<em>n</em> = 15) or gentamicin (<em>n</em> = 2) administered at least 3 times a week for 14 days (for ports).</p></div><div><h3>Results</h3><p>Overall, clearance of bacteremia (as assessed by negativity for the same CoNS of surveillance peripheral blood cultures drawn between day+ 3 and +30 after initiation of systemic therapy) was achieved in all but 1 patient (with port) who had persistent bacteremia at day +9. No complication such as suppurative thrombophlebitis, endocarditis, distant foci of infection or BSI-related death was observed in any patient during the 3-month period after initiation of treatment. Regarding the 17 port-BSI cases for which VAD conservative strategy was attempted, failure of 3-month VAD preservation was documented in 7/17 cases and 3-month recurrence of VAD-BSI was observed in 3/17 cases (with 1 patient with cellulitis). Treatment with mino was well tolerated except for a mild skin rash in one patient.</p></div><div><h3>Conclusion</h3><p>Further prospective studies are needed to evaluate efficacy and safety of this approach.</p></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"72 1","pages":"Article 103422"},"PeriodicalIF":4.1,"publicationDate":"2023-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2452318623000466/pdfft?md5=3118b7d466319999f9ac26b81f225771&pid=1-s2.0-S2452318623000466-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135810422","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":"Cardiovascular risk in a contemporary cohort of patients with myeloproliferative neoplasms’","authors":"Dipal Mehta ,&nbsp;Samah Alimam ,&nbsp;Donal P McLornan ,&nbsp;John A Henry ,&nbsp;Syeda Ahmed ,&nbsp;Arjun K Ghosh ,&nbsp;Sara Tyebally ,&nbsp;John M Walker ,&nbsp;Riyaz Patel ,&nbsp;Rodothea Amerikanou ,&nbsp;Jenny O'Nions ,&nbsp;Andrew J Wilson ,&nbsp;Jon Lambert ,&nbsp;Mallika Sekhar ,&nbsp;Daniel Chen","doi":"10.1016/j.retram.2023.103420","DOIUrl":"10.1016/j.retram.2023.103420","url":null,"abstract":"<div><h3>Background</h3><p>Myeloproliferative neoplasms<span><span> (MPNs) are a group of disorders of clonal haemopoiesis associated with an inherent risk of arterial and venous thrombotic complications. The prevalence of thrombotic complications and the impact of cardiovascular risk factors (CVRFs) in contemporary patient cohorts within the current era of MPN </span>treatments have not been completely defined.</span></p></div><div><h3>Objectives</h3><p>We aim to characterise the cardiovascular risk of patients with MPN by identifying the prevalence of CVRFs and describing the pattern of thrombotic events. We also aim to utilise the QRISK3 algorithm, which is a validated model used to estimate an individual's risk of developing cardiovascular disease, to further phenotype this cohort of patients.</p></div><div><h3>Methods</h3><p>We perform a retrospective analysis on a single-centre cohort of 438 patients with MPN.</p></div><div><h3>Results</h3><p>MPN patients continue to carry a high burden of vascular morbidity with a prevalence of arterial thrombotic events in 15.8 % (69/438) and venous thrombotic events in 13.2 % (58/438) of the cohort. The novel use of the QRISK3 algorithm, which showed a mean score of 13.7 % across the MPN population, provides further evidence to suggest an increased cardiovascular risk in MPN patients.</p></div><div><h3>Conclusion</h3><p><span>With an increased risk of cardiovascular disease in patients with MPN, we propose an integrated approach between primary and specialised healthcare services using </span>risk stratification tools such as QRISK3, which will allow aggressive optimisation of CVRFs to prevent thrombosis and reduce the overall morbidity and mortality in patients with MPN.</p></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"72 1","pages":"Article 103420"},"PeriodicalIF":4.1,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135761067","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":"Pyroptosis in sepsis induced organ dysfunction","authors":"Ruoyu Song ,&nbsp;Shijun He ,&nbsp;Yongbin Wu ,&nbsp;Sipin Tan","doi":"10.1016/j.retram.2023.103419","DOIUrl":"10.1016/j.retram.2023.103419","url":null,"abstract":"<div><p>As an uncontrolled inflammatory response to infection, sepsis and sepsis induced organ dysfunction are great threats to the lives of septic patients. Unfortunately, the pathogenesis of sepsis is complex and multifactorial, which still needs to be elucidated. Pyroptosis<span> is a newly discovered atypical form of inflammatory programmed cell death<span>, which depends on the Caspase-1 dependent classical pathway or the non-classical Caspase-11 (mouse) or Caspase-4/5 (human) dependent pathway. Many studies have shown that pyroptosis is related to sepsis. The Gasdermin proteins are the key molecules in the membrane pores formation in pyroptosis. After cut by inflammatory caspase, the Gasdermin N-terminal fragments with perforation activity are released to cause pyroptosis. Pyroptosis is closely related to the occurrence and development of sepsis induced organ dysfunction. In this review, we summarized the molecular mechanism of pyroptosis, the key role of pyroptosis in sepsis and sepsis induced organ dysfunction, with the aim to bring new diagnostic biomarkers and potential therapeutic targets to improve sepsis clinical treatments.</span></span></p></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"72 2","pages":"Article 103419"},"PeriodicalIF":4.1,"publicationDate":"2023-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135605286","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 in the management of acute myeloid leukemia and histiocytic/dendritic cell neoplasms: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH)","authors":"Audrey Bidet ,&nbsp;Julie Quessada ,&nbsp;Wendy Cuccuini ,&nbsp;Matthieu Decamp ,&nbsp;Marina Lafage-Pochitaloff ,&nbsp;Isabelle Luquet ,&nbsp;Christine Lefebvre ,&nbsp;Giulia Tueur ,&nbsp;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}

{"title":"Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH)","authors":"Wendy Cuccuini ,&nbsp;Marie-Agnes Collonge-Rame ,&nbsp;Nathalie Auger ,&nbsp;Nathalie Douet-Guilbert ,&nbsp;Lucie Coster ,&nbsp;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}

{"title":"Cytogenetics in the management of multiple Myeloma: The guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH)","authors":"Agnès Daudignon ,&nbsp;Wendy Cuccuini ,&nbsp;Claire Bracquemart ,&nbsp;Catherine Godon ,&nbsp;Benoit Quilichini ,&nbsp;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}

{"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 ,&nbsp;Elise Chapiro ,&nbsp;Agnès Daudignon ,&nbsp;Nathalie Nadal ,&nbsp;Dominique Penther ,&nbsp;Jasmine Chauzeix ,&nbsp;Florence Nguyen-Khac ,&nbsp;Lauren Veronese ,&nbsp;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}

{"title":"Cytogenetics in the management of B-cell acute lymphoblastic leukemia: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH)","authors":"Giulia Tueur ,&nbsp;Julie Quessada ,&nbsp;Jolien De Bie ,&nbsp;Wendy Cuccuini ,&nbsp;Saloua Toujani ,&nbsp;Christine Lefebvre ,&nbsp;Isabelle Luquet ,&nbsp;Lucienne Michaux ,&nbsp;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}

{"title":"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)","authors":"N. Nadal ,&nbsp;N. Auger ,&nbsp;A. Bidet ,&nbsp;F. Nguyen-Khac","doi":"10.1016/j.retram.2023.103426","DOIUrl":"10.1016/j.retram.2023.103426","url":null,"abstract":"<div><p>Acquired clonal chromosomal abnormalities (CAs) are usually considered to be disease-related. However, when a CA of this type is the only abnormality present (and especially in small clones), the clinical significance is unclear. Here, we review the literature on recurrent CAs whose significance is regularly subject to debate. Our objective was to help with their interpretation and develop guidelines for sex chromosome loss, trisomy 15, trisomy 8, deletion 20q and other isolated non-myelodysplastic neoplasm (MDS)-defining CAs. We suggest that non-MDS-defining CAs correspond to clonal hematopoiesis of indeterminate potential (CHIP) in the absence of cytopenia and clonal cytopenia of undetermined significance (CCUS) in the presence of cytopenia. Lastly, we review the literature on persistent polyclonal binucleated B-cell lymphocytosis; although usually benign, this condition may correspond to a premalignant state.</p></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"71 4","pages":"Article 103426"},"PeriodicalIF":4.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136093592","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}