Current Research in Translational Medicine最新文献

{"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 ,&nbsp;Julie Quessada ,&nbsp;Giulia Tueur ,&nbsp;Christine Lefebvre ,&nbsp;Isabelle Luquet ,&nbsp;Saloua Toujani ,&nbsp;Wendy Cuccuini ,&nbsp;Marina Lafage-Pochitaloff ,&nbsp;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}

{"title":"Cytogenetic abnormalities in hematologic neoplasms with germline predisposition","authors":"Nathalie Gachard ,&nbsp;Marina Lafage-Pochitaloff ,&nbsp;Julie Quessada ,&nbsp;Nathalie Auger ,&nbsp;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}

{"title":"Cytogenetics in the management of chronic lymphocytic leukemia: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH)","authors":"Florence Nguyen-Khac ,&nbsp;Zsofia Balogh ,&nbsp;Jasmine Chauzeix ,&nbsp;Lauren Veronese ,&nbsp;Elise Chapiro","doi":"10.1016/j.retram.2023.103410","DOIUrl":"10.1016/j.retram.2023.103410","url":null,"abstract":"<div><p>Chromosomal abnormalities are frequent in chronic lymphocytic leukemia (CLL), and most have prognostic value. In addition to the four well-known abnormalities (13q, 11q and 17p deletions, and trisomy 12), other recurrent aberrations have been linked to the disease outcome and/or drug resistance. Moreover, the complex karyotype has recently emerged as a prognostic marker for patients undergoing immunochemotherapy or targeted therapies. Here, we describe the main chromosomal abnormalities identified in CLL and related disorders (small lymphocytic lymphoma and monoclonal B-cell lymphocytosis) by reviewing the most recent literature and discussing their detection and clinical impact. Lastly, we provide technical guidelines and a strategy for the cytogenetic assessment of CLL.</p></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"71 4","pages":"Article 103410"},"PeriodicalIF":4.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135348046","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 hematological malignancies: Guidelines from the Groupe Francophone de Cytogénétique Hématologique","authors":"Florence Nguyen-Khac ,&nbsp;Audrey Bidet ,&nbsp;Elise Chapiro ,&nbsp;Christine Lefebvre ,&nbsp;Lucienne Michaux ,&nbsp;Marie-Bérengère Troadec","doi":"10.1016/j.retram.2023.103411","DOIUrl":"10.1016/j.retram.2023.103411","url":null,"abstract":"","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"71 4","pages":"Article 103411"},"PeriodicalIF":4.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135963657","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 B-cell non-Hodgkin lymphomas: Guidelines from the Groupe Francophone de Cytogénétique Hematologique (GFCH)","authors":"C. Lefebvre ,&nbsp;L. Veronese ,&nbsp;N. Nadal ,&nbsp;J.-B. Gaillard ,&nbsp;D. Penther ,&nbsp;A. Daudignon ,&nbsp;J. Chauzeix ,&nbsp;F. Nguyen-Khac ,&nbsp;E. Chapiro","doi":"10.1016/j.retram.2023.103425","DOIUrl":"10.1016/j.retram.2023.103425","url":null,"abstract":"<div><p>Non-Hodgkin lymphomas (NHL) consist of a wide range of clinically, phenotypically and genetically distinct neoplasms. The accurate diagnosis of mature B-cell non-Hodgkin lymphoma relies on a multidisciplinary approach that integrates morphological, phenotypical and genetic characteristics together with clinical features. Cytogenetic analyses remain an essential part of the diagnostic workup for mature B-cell lymphomas. Karyotyping is particularly useful to identify hallmark translocations, typical cytogenetic signatures as well as complex karyotypes, all bringing valuable diagnostic and/or prognostic information. Besides the well-known recurrent chromosomal abnormalities such as, for example, t(14;18)(q32;q21)/IGH<em>::BCL2</em> in follicular lymphoma, recent evidences support a prognostic significance of complex karyotype in mantle cell lymphoma and Waldenström macroglobulinemia. Fluorescence In Situ Hybridization is also a key analysis playing a central role in disease identification, especially in genetically-defined entities, but also in predicting transformation risk or prognostication. This can be exemplified by the pivotal role of <em>MYC, BCL2</em> and/or <em>BCL6</em> rearrangements in the diagnostic of aggressive or large B-cell lymphomas.</p><p>This work relies on the World Health Organization and the International Consensus Classification of hematolymphoid tumors together with the recent cytogenetic advances. Here, we review the various chromosomal abnormalities that delineate well-established mature B-cell non-Hodgkin lymphoma entities as well as newly recognized genetic subtypes and provide cytogenetic guidelines for the diagnostic management of mature B-cell lymphomas.</p></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"71 4","pages":"Article 103425"},"PeriodicalIF":4.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136053874","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 myelodysplastic neoplasms (myelodysplastic syndromes, MDS): Guidelines from the groupe francophone de cytogénétique hématologique (GFCH)","authors":"Nathalie Auger ,&nbsp;Nathalie Douet-Guilbert ,&nbsp;Julie Quessada ,&nbsp;Olivier Theisen ,&nbsp;Marina Lafage-Pochitaloff ,&nbsp;Marie-Bérengère Troadec","doi":"10.1016/j.retram.2023.103409","DOIUrl":"10.1016/j.retram.2023.103409","url":null,"abstract":"<div><p>Myelodysplastic neoplasms (MDS) are clonal hematopoietic neoplasms. Chromosomal abnormalities (CAs) are detected in 40–45% of <em>de novo</em> MDS and up to 80% of post-cytotoxic therapy MDS (MDS-pCT). Lately, several changes appeared in World Health Organization (WHO) classification and International Consensus Classification (ICC). The novel ‘biallelic <em>TP53</em> inactivation’ (also called ‘multi-hit TP53’) MDS entity requires systematic investigation of <em>TP53</em> locus (17p13.1). The ICC maintains CA allowing the diagnosis of MDS without dysplasia (del(5q), del(7q), -7 and complex karyotype). Deletion 5q is the only CA, still representing a low blast class of its own, if isolated or associated with one additional CA other than -7 or del(7q) and without multi-hit <em>TP53</em>. It represents one of the most frequent aberrations in adults’ MDS, with chromosome 7 aberrations, and trisomy 8. Conversely, translocations are rarer in MDS. In children, del(5q) is very rare while -7 and del(7q) are predominant. Identification of a germline predisposition is key in childhood MDS. Aberrations of chromosomes 5, 7 and 17 are the most frequent in MDS-pCT, grouped in complex karyotypes. Despite the ever-increasing importance of molecular features, cytogenetics remains a major part of diagnosis and prognosis. In 2022, a molecular international prognostic score (IPSS-M) was proposed, combining the prognostic value of mutated genes to the previous scoring parameters (IPSS-R) including cytogenetics, still essential. A karyotype on bone marrow remains mandatory at diagnosis of MDS with complementary molecular analyses now required. Analyses with FISH or other technologies providing similar information can be necessary to complete and help in case of karyotype failure, for doubtful CA, for clonality assessment, and for detection of <em>TP53</em> deletion to assess <em>TP53</em> biallelic alterations.</p></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"71 4","pages":"Article 103409"},"PeriodicalIF":4.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135348575","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 myeloproliferative neoplasms, mastocytosis and myelodysplastic/myeloproliferative neoplasms: Guidelines from the Group Francophone de Cytogénétique Hématologique (GFCH)","authors":"Matthieu Decamp ,&nbsp;Emilie Klein ,&nbsp;Catherine Godon ,&nbsp;Valentin Lestringant ,&nbsp;Pauline Roynard ,&nbsp;Olivier Theisen ,&nbsp;Mélanie Jimenez-Pocquet ,&nbsp;Catherine Roche-Lestienne ,&nbsp;Audrey Bidet ,&nbsp;Lauren Veronese","doi":"10.1016/j.retram.2023.103424","DOIUrl":"10.1016/j.retram.2023.103424","url":null,"abstract":"<div><p>Myeloproliferative neoplasms, mastocytosis, myeloid/lymphoid neoplasms with hypereosinophilia and tyrosine kinase gene fusions, and myelodysplastic/myeloproliferative neoplasms are clonal hematopoietic cancers that, with the exception of certain entities, have an indolent course.</p><p>In addition to their increasingly important role in the diagnosis of these entities, as shown by the recent classification of hematolymphoid tumors in the 5th edition of the World Health Organization and the International Consensus Classification of myeloid neoplasms and acute leukemias, identification of the profile of acquired genetic abnormalities is essential for adapting patient management and early detection of patients at high risk of progression.</p><p>Alongside molecular abnormalities, cytogenetic abnormalities play an important role in the diagnosis, prognosis and follow-up of these diseases.</p><p>Here, we review the recent literature on the impact of chromosomal abnormalities in these different entities and provide updated cytogenetic recommendations and guidelines for their management.</p></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"71 4","pages":"Article 103424"},"PeriodicalIF":4.1,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135965590","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":"Association of Normal and Mutated APOL1 G2 Rs60910145 alleles with SCD, Body Mass Index, and Renal Function Biomarkers and Indices","authors":"Abazar Mahmoud Ismail ,&nbsp;Bakri Mohammed Nour ,&nbsp;Adam Dawoud Abakar ,&nbsp;Babiker Saad Almugadam ,&nbsp;Hisham N. Altayb ,&nbsp;Rania TagEsir Ahmed ,&nbsp;Mubarak Elsaeed Mustafa Elkarsany","doi":"10.1016/j.retram.2023.103414","DOIUrl":"10.1016/j.retram.2023.103414","url":null,"abstract":"<div><h3>Purpose of the study</h3><p>: The current study aimed to detect the frequency of normal and mutated APOL1<span><span> alleles in sickle cell disease (SCD) patients and test their relation with </span>Microalbuminuria<span><span>, Creatinine, Urea, Glomerular Filtration Rate (GFR), and </span>Body Mass Index (BMI).</span></span></p></div><div><h3>Patients and Methods</h3><p>: The study included 156 SCD subjects. Serum Creatinine<span> (mg/dl) and Urea (mg/dl) as well as Microalbuminuria (mg/l) level were measured by using Biosystems kit (Biosystems, Barcelona, Spain) and Mindary BA88A semi-automated biochemistry analyzer. Glomerular filtration rate and body mass index were calculated by equations. Blood DNA extraction was achieved by using the modified G-DEX™IIb Genomic DNA Extraction Kit protocol. The PCR was done for the detection of the APOL1 G2 rs60910145 alleles by using allele-specific PCR and primers.</span></p></div><div><h3>Results</h3><p>: The CC allele was more frequent in study cases (66.7%) than TT allele. The frequency of a mutated allele (CC) was insignificantly higher in males (67.8%) than in females (65.2%) and in rural (70.9%) than urban areas. It is also higher in Shankhab compared to other tribes and subjects 26-37 years compared to other, P˃0.05. Interstingly, the subjects who carry the CC allele showed a significantly higher level of Microalbuminuria, Creatinine, BMI, and Urea compared to those carry TT allele. Moreover, GFR is also higher in subjects who carry CC than TT allele but it is not significant.</p></div><div><h3>Conculsion</h3><p>: Altogether, the study findings highlighted the link of normal and mutated APOL1 G2 rs60910145 alleles with SCD and displayed the significant value of mutated APOL1 allele in the prediction of early nephropathy in SCD patients.</p></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"72 1","pages":"Article 103414"},"PeriodicalIF":4.1,"publicationDate":"2023-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135588236","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":"Biochemical pancreatic β-cell lineage reprogramming: Various cell fate shifts","authors":"Yuqin Wang ,&nbsp;Zhuoqing Liu ,&nbsp;Shengren Li ,&nbsp;Xuejuan Su ,&nbsp;Keng Po Lai ,&nbsp;Rong Li","doi":"10.1016/j.retram.2023.103412","DOIUrl":"10.1016/j.retram.2023.103412","url":null,"abstract":"<div><p><span><span><span>The incidence of pancreatic diseases has been continuously rising in recent years. Thus, research on pancreatic regeneration is becoming more popular. Chronic </span>hyperglycemia<span> is detrimental to pancreatic β-cells, leading to impairment of insulin secretion which is the main hallmark of pancreatic diseases. Obtaining plenty of functional pancreatic β-cells is the most crucial aspect when studying pancreatic biology and treating diabetes. According to the International Diabetes Federation, diabetes has become a global epidemic, with about 3 million people suffering from diabetes worldwide. Hyperglycemia can lead to many dangerous diseases, including amputation, </span></span>blindness, </span>neuropathy<span>, stroke, and cardiovascular and kidney diseases<span>. Insulin is widely used in the treatment of diabetes; however, innovative approaches are needed in the academic and preclinical stages. A new approach aims at synthesizing patient-specific functional pancreatic β-cells. The present article focuses on how cells from different tissues can be transformed into pancreatic β-cells.</span></span></p></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"72 1","pages":"Article 103412"},"PeriodicalIF":4.1,"publicationDate":"2023-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135388928","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":"Exploring clues pointing toward the existence of a brain-gut microbiota-hair follicle axis","authors":"Yang Feng","doi":"10.1016/j.retram.2023.103408","DOIUrl":"10.1016/j.retram.2023.103408","url":null,"abstract":"<div><p><span><span>Proposing the concept of a brain-gut-skin axis has led some researchers to recognize the relationship among brain activity, gut microbiota, and the skin. </span>Hair follicles<span><span> are skin accessory organs, a previously unnoticed target tissue for classical neurohormones<span>, neurotrophins, and </span></span>neuropeptides<span>. Some studies have shown a relationship between the central nervous system and hair follicles that an imbalance in the gut bacteria can affect hair follicle density. This review summarizes existing evidence from literature and explores clues supporting a connection linking the brain, gut microbiota, and hair follicles. It amalgamates previously proposed partial concepts into a new, unified concept—the “brain-gut microbiota-hair follicle” axis, —which suggests that modulation of the </span></span></span>microbiome<span> via probiotics can have positive effects on hair follicles. This review also explores how preclinical research on hair follicles can propel novel and clinically untapped applications.</span></p></div>","PeriodicalId":54260,"journal":{"name":"Current Research in Translational Medicine","volume":"72 1","pages":"Article 103408"},"PeriodicalIF":4.1,"publicationDate":"2023-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135248858","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}