Medizinische Genetik最新文献

{"title":"Ankündigung der 6. GfH-Juniorakademie 2024.","authors":"","doi":"10.1515/medgen-2024-2027","DOIUrl":"https://doi.org/10.1515/medgen-2024-2027","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 2","pages":"149"},"PeriodicalIF":1.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11154178/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bonn: Univ.-Prof. Dr. Dr. Eva Schulte leitet neue Sektion für Psychiatrische Genomik.","authors":"Eva Schulte","doi":"10.1515/medgen-2024-2017","DOIUrl":"https://doi.org/10.1515/medgen-2024-2017","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 2","pages":"135-136"},"PeriodicalIF":1.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11154185/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297255","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of epigenetics in rare diseases.","authors":"Bernhard Horsthemke","doi":"10.1515/medgen-2024-2014","DOIUrl":"10.1515/medgen-2024-2014","url":null,"abstract":"<p><p>Epigenetic control systems are based on chromatin modifications (DNA methylation, histone modifications and nucleosome positioning), which affect the local kinetics of gene expression. They play an important role in maintaining cell fate decisions, X inactivation and genomic imprinting. Aberrant chromatin states that are associated with a deleterious change in gene expression are called epimutations. An epimutation can be a primary epimutation that has occurred in the absence of any genetic change or a secondary epimutation that results from a mutation of a <i>cis</i>-acting regulatory element or <i>trans</i>-acting factor. Epimutations may play a causative role in disease, for example in imprinting disorders, or may be part of the pathogenetic mechanism as in the fragile X syndrome and in syndromes caused by a mutation affecting a chromatin modifier. For several diseases, DNA methylation testing is an important tool in the diagnostic work-up of patients.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 2","pages":"111-120"},"PeriodicalIF":1.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11154187/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297264","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Implementation of human genetic counseling in the MZEB (Medical Center for Adults with disabilities) at the psychiatric LVR Clinic Bedburg-Hau.","authors":"Dorothee Maliszewski-Makowka, Dagmar Wieczorek","doi":"10.1515/medgen-2024-2026","DOIUrl":"10.1515/medgen-2024-2026","url":null,"abstract":"<p><p>Outpatient diagnostics for adult patients with intellectual disabilities and developmental disorders were significantly improved when 'Medical Centers for Adults with Disabilities' (MZEB) were established in 2015 in accordance with a new law (§ 119c SGB V). Due to the multi-professional nature of these MZEBs, cooperation with various specialized centers can be initiated. Accordingly, in 2023, a cooperation between the MZEB in the LVR-Clinic Bedburg-Hau and the Institute of Human Genetics, Heinrich-Heine University (HHU) Düsseldorf was initiated. Interdisciplinary consultation hours for adult patients have been established in Bedburg-Hau offering genetic counselling and testing to identify the underlying genetic entity. We will introduce this new structure and report preliminary results.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 2","pages":"103-109"},"PeriodicalIF":1.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11154173/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297258","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tagungsrückblick 36. Tumorgenetische Arbeitstagung 2024: vom 02. bis 05. Mai 2024 in Volpriehausen bei Göttingen.","authors":"","doi":"10.1515/medgen-2024-2028","DOIUrl":"https://doi.org/10.1515/medgen-2024-2028","url":null,"abstract":"<p><p>Das Isochromosom i(7)(p10) stellt eine seltene zytogenetische Aberration dar, die mit einem Zugewinn des kurzen Arms von Chromosom 7 und einem Verlust des langen Arms von Chromosom 7 einhergeht. Da bisher nur wenig über die Rolle von i(7)(p10) im Kontext hämatologischer Neoplasien bekannt war, wurde in dieser Arbeit eine Patientenkohorte systematisch hinsichtlich des Vorkommens von i(7)(p10) bei verschiedenen hämatologischen Neoplasien sowie hinsichtlich des Auftretens von zusätzlichen chromosomalen Veränderungen und Co-Mutationen analysiert. Die Aberration i(7)(p10) wurde hierbei bei insgesamt 34 Patienten mittels Chromosomenbänderungsanalyse (CBA) nachgewiesen. Es zeigte sich, dass diese Patienten überwiegend mit akuter myeloischer Leukämie (AML) diagnostiziert wurden (n=23, 68%) und i(7)(p10) dagegen seltener in anderen hämatologischen Neoplasien wie reifen B Zellneoplasien (n=6, 18%), myelodysplastischen Neoplasien (MDS, n=4, 12%) oder akuten lymphatischen Leukämien (ALL, n=1, 3%) aufgetreten ist. Bei Patienten mit AML trat das i(7)(p10) dabei meist als alleinige Chromosomenaberration ohne zusätzliche zytogenetische Veränderungen auf. Bei 18 der 34 Fälle mit i(7)(p10) standen Daten aus molekulargenetischen Analysen zur Verfügung, die ergaben, dass das Vorkommen von i(7) (p10) bei AML Patienten (n=15) stark mit einer Mutation im IDH2 Gen assoziiert ist (bei 14/15 Fällen).Während neben der Mutation von IDH2 zusätzlich häufig Mutationen in den Genen DNMT3A (14/15), BCOR (7/15) und EZH2 (4/15) nachgewiesen wurden, zeigten sich die sonst typischen Co-Mutationen von IDH2 (z.B. SRSF2, ASXL1, NPM1, STAG2, RUNX1 und NRAS) dagegen sehr selten. Weiterhin wurde bei AML Patienten mit i(7)(p10) eine Prävalenz der IDH2 Mutation an der Position p.Arg172Lys beobachtet, die bei IDH2-mutierten AML Patienten ohne i(7)(p10) signifikant seltener nachgewiesen wurde (bei 86% bzw. 13%der Fälle, p<0.001). Aufgrund der Beobachtung, dass die Mutation von IDH2 bei Patienten mit i(7)(p10) ausschließlich im !Hauptklon der Erkrankung detektiert wurde und bisher keine alternativen therapeutisch angreifbaren Gene oder Aberrationen in dieser Subgruppe bekannt sind, könnten IDH2-mutierte AML Patienten mit der seltenen Chromosomenaberration i(7)(p10) von einer Therapie mit bereits klinisch verfügbaren IDH-Inhibitoren profitieren.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 2","pages":"141-144"},"PeriodicalIF":1.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic studies in clonal haematopoiesis, myelodysplastic neoplasms and acute myeloid leukaemia – a practical guide to WHO-HAEM5","authors":"Katharina Hörst, Constanze Kühn, C. Haferlach, T. Haferlach, Joseph D. Khoury","doi":"10.1515/medgen-2024-2010","DOIUrl":"https://doi.org/10.1515/medgen-2024-2010","url":null,"abstract":"\u0000 In recent years, technology developments and increase in knowledge have led to profound changes in the diagnostics of haematologic neoplasms, particularly myeloid neoplasms. Therefore an updated, fifth edition of the World Health Organization (WHO) classification of haematolymphoid neoplasms (WHO-HAEM5) will be issued in 2024. In this context, we present a practical guide for analysing the genetic aspects of clonal haematopoiesis of indeterminate potential (CHIP), clonal cytopenia of undetermined significance (CCUS), myelodysplastic neoplasms (MDS), and acute myeloid leukaemia (AML) based on WHO-HAEM5. This guide navigates through the genetic abnormalities underlying myeloid neoplasms which are required to be detected for classification according to WHO-HAEM5 and provides diagnostic algorithms.","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"103 23","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140079894","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic alterations in mature B- and T-cell lymphomas – a practical guide to WHO-HAEM5","authors":"Cristina López, Anja Fischer, Andreas Rosenwald, R. Siebert, G. Ott, Katrin S. Kurz","doi":"10.1515/medgen-2024-2005","DOIUrl":"https://doi.org/10.1515/medgen-2024-2005","url":null,"abstract":"\u0000 The identification of recurrent genomic alterations in tumour cells has a significant role in the classification of mature B- and T-cell lymphomas. Following the development of new technologies, such as next generation sequencing and the improvement of classical technologies such as conventional and molecular cytogenetics, a huge catalogue of genomic alterations in lymphoid neoplasms has been established. These alterations are relevant to refine the taxonomy of the classification of lymphomas, to scrutinize the differential diagnosis within different lymphoma entities and to help assessing the prognosis and clinical management of the patients. Consequently, here we describe the key genetic alterations relevant in mature B- and T-cell lymphomas.","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"29 9","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140080662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Jahresberichte 2023 aus den GfH-Kommissionen und GfH-Arbeitskreisen","authors":"","doi":"10.1515/medgen-2024-2013","DOIUrl":"https://doi.org/10.1515/medgen-2024-2013","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"71 7","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140080419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Laborqualität sichern – molekular- und zytogenetische Ringversuche des BVDH e. V.","authors":"J. Kunz, S. Brandt","doi":"10.1515/medgen-2024-2011","DOIUrl":"https://doi.org/10.1515/medgen-2024-2011","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"44 4","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140080717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deutsche Gesellschaft für Humangenetik e.V. (GfH): 23.10.2023 Stellungnahme der Deutschen Gesellschaft für Humangenetik zum Umfang der genetischen Pränataldiagnostik bei auffälligen Ultraschallbefunden.","authors":"","doi":"10.1515/medgen-2023-2059","DOIUrl":"10.1515/medgen-2023-2059","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"35 4","pages":"307-311"},"PeriodicalIF":1.1,"publicationDate":"2023-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006311/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141263262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}