Pub Date : 2024-03-04DOI: 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}
Pub Date : 2024-03-04DOI: 10.1515/medgen-2024-2003
Constanze Kühn, Katharina Hörst, Hans M. Kvasnicka, A. Hochhaus, Andreas Reiter
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.
{"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}
Pub Date : 2024-03-04DOI: 10.1515/medgen-2024-2006
E. Tausch, Cristina López, S. Stilgenbauer, R. Siebert
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.
世界卫生组织血液淋巴肿瘤分类》（WHO-HAEM5）第五版对包括慢性淋巴细胞白血病（CLL）和浆细胞骨髓瘤/多发性骨髓瘤（PCM/MM）在内的淋巴恶性肿瘤的分类进行了修订。对这两种疾病的前体状态（如单克隆 B 细胞淋巴细胞增多症和意义不明的单克隆淋巴瘤病（MGUS））进行了描述更新，包括一个更好的风险分层模型。关于突变景观和分支进化模式的新见解被作为诊断和预后因素纳入其中，同时对浆细胞肿瘤一章的结构进行了修订。因此，WHO-HAEM5 为淋巴恶性肿瘤领域的病理学家、临床医生、遗传学家和科学家带来了具有生物学和临床意义的实际改进。本综述概述了 CLL 和浆细胞肿瘤的基因改变情况，重点关注其对分类和治疗的影响。
{"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}
Pub Date : 2024-03-04DOI: 10.1515/medgen-2024-2001
I. Salaverria, R. Siebert, Krzysztof Mrózek
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.
{"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}
Pub Date : 2024-03-04DOI: 10.1515/medgen-2024-2008
C. Haferlach, German Ott, Katharina Hörst, Constanze Kühn, T. Haferlach, R. Siebert
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.
{"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}
Pub Date : 2024-03-04DOI: 10.1515/medgen-2024-2007
Doris Steinemann, M. Dawidowska, Lisa J Russell, Christine J Harrison, Gudrun Göhring
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.
我们根据世界卫生组织（WHO）2024 年发布的第五版血液淋巴肿瘤分类（WHO-HAEM5），为分析淋巴母细胞白血病/淋巴瘤的遗传学问题提供了实用指南。WHO-HAEM5承认遗传学在淋巴肿瘤诊断中的重要性与日俱增。其分类依据的是根据细胞系确定的遗传亚型，先是前体细胞肿瘤，然后是成熟的恶性肿瘤。本指南描述了急性前体 B 细胞和 T 细胞肿瘤的基因异常，这些异常是进行风险分层和治疗所必需的，并在 "必要 "和 "理想 "诊断标准标题下提供了诊断算法。
{"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}
Pub Date : 2024-03-04DOI: 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}
Pub Date : 2024-03-04DOI: 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}
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