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Genetic alterations in the classification of tumors of the haematopoietic system: From guiding diagnosis to instructing treatment in leukaemias and lymphomas 造血系统肿瘤分类中的基因改变：白血病和淋巴瘤从指导诊断到指导治疗
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-03-04 DOI: 10.1515/medgen-2024-2002
German Ott, C. Haferlach, R. Siebert
{"title":"Genetic alterations in the classification of tumors of the haematopoietic system: From guiding diagnosis to instructing treatment in leukaemias and lymphomas","authors":"German Ott, C. Haferlach, R. Siebert","doi":"10.1515/medgen-2024-2002","DOIUrl":"https://doi.org/10.1515/medgen-2024-2002","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140266741","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}
引用次数: 0
Genetic alterations in myeloproliferative and myelodysplastic/myeloproliferative neoplasms – a practical guide to WHO-HAEM5 骨髓增生性和骨髓增生异常/骨髓增生性肿瘤的基因改变--WHO-HAEM5实用指南
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-03-04 DOI: 10.1515/medgen-2024-2003
Constanze Kühn, Katharina Hörst, Hans M. Kvasnicka, A. Hochhaus, Andreas Reiter
{"title":"Genetic alterations in myeloproliferative and myelodysplastic/myeloproliferative neoplasms – a practical guide to WHO-HAEM5","authors":"Constanze Kühn, Katharina Hörst, Hans M. Kvasnicka, A. Hochhaus, Andreas Reiter","doi":"10.1515/medgen-2024-2003","DOIUrl":"https://doi.org/10.1515/medgen-2024-2003","url":null,"abstract":"\u0000 Within the World Health Organization (WHO) classification of haematopoietic neoplasms, particularly its fifth version from 2022 (WHO-HAEM5), myeloid neoplasms are not only grouped into myeloproliferative (MPN) and myelodysplastic neoplasms (MDS). There is also a group of haematological disorders that share features of both categories termed myelodysplastic /myeloproliferative neoplasms (MDS/MPN). In this article, we aim to provide a comprehensive and practical guide to WHO-HAEM5 highlighting the genetic alterations that underlie MPN and MDS/MPN. This guide provides an overview of the overlapping commonalities among these entities, as well as their unique characteristics.","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140265999","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}
引用次数: 0
Genetic alterations in chronic lymphocytic leukemia and plasma cell neoplasms – a practical guide to WHO HAEM5 慢性淋巴细胞白血病和浆细胞肿瘤的基因改变--世界卫生组织 HAEM5 实用指南
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-03-04 DOI: 10.1515/medgen-2024-2006
E. Tausch, Cristina López, S. Stilgenbauer, R. Siebert
{"title":"Genetic alterations in chronic lymphocytic leukemia and plasma cell neoplasms – a practical guide to WHO HAEM5","authors":"E. Tausch, Cristina López, S. Stilgenbauer, R. Siebert","doi":"10.1515/medgen-2024-2006","DOIUrl":"https://doi.org/10.1515/medgen-2024-2006","url":null,"abstract":"\u0000 The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours (WHO-HAEM5) provides a revised classification of lymphoid malignancies including chronic lymphocytic leukemia (CLL) and plasma cell myeloma/multiple myeloma (PCM/MM). For both diseases the descriptions of precursor states such as monoclonal B-cell lymphocytosis and monoclonal gammopathy of uncertain significance (MGUS) have been updated including a better risk stratification model. New insights on mutational landscapes and branching evolutionary pattern were embedded as diagnostic and prognostic factors, accompanied by a revised structure for the chapter of plasma cell neoplasms. Thus, the WHO-HAEM5 leads to practical improvements of biological and clinical relevance for pathologists, clinicians, geneticists and scientists in the field of lymphoid malignancies. The present review gives an overview on the landscape of genetic alterations in CLL and plasma cell neoplasms with a focus on their impact on classification and treatment.","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140265983","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}
引用次数: 0
Appraisal of current technologies for the study of genetic alterations in hematologic malignancies with a focus on chromosome analysis and structural variants 评估当前研究血液恶性肿瘤遗传变异的技术，重点是染色体分析和结构变异
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-03-04 DOI: 10.1515/medgen-2024-2001
I. Salaverria, R. Siebert, Krzysztof Mrózek
{"title":"Appraisal of current technologies for the study of genetic alterations in hematologic malignancies with a focus on chromosome analysis and structural variants","authors":"I. Salaverria, R. Siebert, Krzysztof Mrózek","doi":"10.1515/medgen-2024-2001","DOIUrl":"https://doi.org/10.1515/medgen-2024-2001","url":null,"abstract":"\u0000 During the last five decades, chromosome analysis identified recurring translocations and inversions in leukemias and lymphomas, which led to cloning of genes at the breakpoints that contribute to oncogenesis. Such molecular cytogenetic methods as fluorescence in situ hybridization (FISH), copy number (CN) arrays or optical genome mapping (OGM) have augmented standard chromosome analysis. The use of both cytogenetic and molecular methods, such as reverse transcription-polymerase chain reaction (RT-PCR) and next generation sequencing (NGS), including whole-genome sequencing (WGS), discloses alterations that not only delineate separate WHO disease entities but also constitute independent prognostic factors, whose use in the clinic improves management of patients with hematologic neoplasms.","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140266066","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}
引用次数: 0
Ein Geburtstagsgruß für Ingo Hansmann zum 80. Geburtstag 在英戈-汉斯曼 80 岁生日之际向他致以生日祝福
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-03-04 DOI: 10.1515/medgen-2024-2009
A. Reis
{"title":"Ein Geburtstagsgruß für Ingo Hansmann zum 80. Geburtstag","authors":"A. Reis","doi":"10.1515/medgen-2024-2009","DOIUrl":"https://doi.org/10.1515/medgen-2024-2009","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140266175","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}
引用次数: 0
Overview on WHO-HAEM5 and the diagnostic relevance of genetic alterations for the classification 世界卫生组织-HAEM5 概述以及基因改变对分类的诊断意义
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-03-04 DOI: 10.1515/medgen-2024-2008
C. Haferlach, German Ott, Katharina Hörst, Constanze Kühn, T. Haferlach, R. Siebert
{"title":"Overview on WHO-HAEM5 and the diagnostic relevance of genetic alterations for the classification","authors":"C. Haferlach, German Ott, Katharina Hörst, Constanze Kühn, T. Haferlach, R. Siebert","doi":"10.1515/medgen-2024-2008","DOIUrl":"https://doi.org/10.1515/medgen-2024-2008","url":null,"abstract":"\u0000 The landscape of haematological malignancies is constantly evolving, driven by advances in our understanding of their genetic basis. This has cumulated within the 5th Edition of the World Health Organization (WHO) Classification of Haematolymphoid Tumours published in short form in 2022 [1, 2] and being available in full length both as “Blue Book” (in print expected early 2024) as well as web-based classification (see: https://tumourclassification.iarc.who.int/welcome/). Similarly, the importance of genetic alterations for the classification is highlighted in other classification systems related to haematologic neoplasms [3–5]. In this special issue of the Medizinische Genetik, we present a comprehensive overview of the genetic alterations contributing to the classification of haematolymphoid neoplasms in the 5th Edition of the WHO classification (WHO-HAEM5) and its diagnostic relevance in the context of various haematological malignancies.","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140266073","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}
引用次数: 0
Genetic alterations in lymphoblastic leukaemia / lymphoma – a practical guide to WHO HAEM5 淋巴细胞白血病/淋巴瘤的基因改变--世界卫生组织 HAEM5 实用指南
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-03-04 DOI: 10.1515/medgen-2024-2007
Doris Steinemann, M. Dawidowska, Lisa J Russell, Christine J Harrison, Gudrun Göhring
{"title":"Genetic alterations in lymphoblastic leukaemia / lymphoma – a practical guide to WHO HAEM5","authors":"Doris Steinemann, M. Dawidowska, Lisa J Russell, Christine J Harrison, Gudrun Göhring","doi":"10.1515/medgen-2024-2007","DOIUrl":"https://doi.org/10.1515/medgen-2024-2007","url":null,"abstract":"\u0000 We present a practical guide for analyzing the genetic aspects of lymphoblastic leukaemia/lymphoma according to the 5th edition of the World Health Organization (WHO) classification of haematolymphoid neoplasms (WHO-HAEM5) issued in 2024. The WHO-HAEM5 acknowledges the increasing importance of genetics in the diagnosis of lymphoid neoplasia. Classification is based on the established genetic subtypes according to cell lineage, with precursor cell neoplasms followed by mature malignancies. This guide describes those genetic abnormalities in acute precursor B- and T-cell neoplasms required for risk stratification, and for treatment, providing diagnostic algorithms under the headings of ‘essential’ and ‘desirable’ diagnostic criteria.","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140266585","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}
引用次数: 0
Einladung zum Syndromtag 2024 in Göttingen vom 04.–05. Oktober 邀请参加 10 月 04-05 日在哥廷根举行的 2024 年综合症日活动
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-03-04 DOI: 10.1515/medgen-2024-2012
{"title":"Einladung zum Syndromtag 2024 in Göttingen vom 04.–05. Oktober","authors":"","doi":"10.1515/medgen-2024-2012","DOIUrl":"https://doi.org/10.1515/medgen-2024-2012","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140266884","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}
引用次数: 0
Die neue HGQN-Variantendatenbank 新的 HGQN 变异数据库
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-03-04 DOI: 10.1515/medgen-2024-2004
{"title":"Die neue HGQN-Variantendatenbank","authors":"","doi":"10.1515/medgen-2024-2004","DOIUrl":"https://doi.org/10.1515/medgen-2024-2004","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140266576","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}
引用次数: 0
Die staatliche Anerkennung der/des „Fachhumangenetiker/in (GfH)“ ist überfällig 国家早该承认 "人类遗传学专家（GfH）"了
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-11-29 DOI: 10.1515/medgen-2023-2042
{"title":"Die staatliche Anerkennung der/des „Fachhumangenetiker/in (GfH)“ ist überfällig","authors":"","doi":"10.1515/medgen-2023-2042","DOIUrl":"https://doi.org/10.1515/medgen-2023-2042","url":null,"abstract":"","PeriodicalId":48632,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139214763","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}
引用次数: 0
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