Impact Factor: 1.1

Published since March 20, 2007

Medizinische Genetik

ISSN: 1863-5490

About this journal

Objectives

medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community.

In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.

Main Topics for the coming issues are:

Genomics and Epigenomics of Psychiatric Disorders

Hereditary Hearing Loss and Deafness Overview

Periphere Neurogenetic Disorders

Genomic Imprinting

Your Benefits

medizinischegenetik is owned and published by the German Society of Human Genetics (GfH).

Co publishers
Austrian Society of Human Genetics (ÖGH)
Swiss Society of Medical Genetics (SGMG)
Professional Association of German Human Geneticists (BVDH)

Your benefits:

Information on new interdisciplinary research approaches and the international dialogue in the fields of human genetics
Renowned editors and authors
Issues with main focus on special aspects in clinical genetics, syndromal disorders, new technical aspects of genetic diagnostics
Information on events concerning clinical genetics
Print- and online publication

History

medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter.

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Supplementary Materials

Topics

Volume 36 Issue 1

April 2024

Publicly Available March 6, 2024

Frontmatter

Page range: I-III

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MAIN TOPIC Genetic Alterations of Haematolymphoid Tumours

Open Access March 6, 2024

Genetic alterations in the classification of tumors of the haematopoietic system: From guiding diagnosis to instructing treatment in leukaemias and lymphomas

German Ott, Claudia Haferlach, Reiner Siebert

Page range: 1-2

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Open Access March 6, 2024

Overview on WHO-HAEM5 and the diagnostic relevance of genetic alterations for the classification

Claudia Haferlach, German Ott, Katharina Hörst, Constanze Kühn, Torsten Haferlach, Reiner Siebert

Page range: 3-11

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Abstract

The landscape of haematological malignancies is constantly evolving, driven by advances in our understanding of their genetic basis. This has cumulated within the 5 th 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 5 th Edition of the WHO classification (WHO-HAEM5) and its diagnostic relevance in the context of various haematological malignancies.

Open Access March 6, 2024

Appraisal of current technologies for the study of genetic alterations in hematologic malignancies with a focus on chromosome analysis and structural variants

Itziar Salaverria, Reiner Siebert, Krzysztof Mrózek

Page range: 13-20

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Abstract

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.

Open Access March 6, 2024

Genetic studies in clonal haematopoiesis, myelodysplastic neoplasms and acute myeloid leukaemia – a practical guide to WHO-HAEM5

Katharina Hörst, Constanze Kühn, Claudia Haferlach, Torsten Haferlach, Joseph D. Khoury

Page range: 21-29

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Abstract

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.

Open Access March 6, 2024

Genetic alterations in myeloproliferative and myelodysplastic/myeloproliferative neoplasms – a practical guide to WHO-HAEM5

Constanze Kühn, Katharina Hörst, Hans M. Kvasnicka, Andreas Hochhaus, Andreas Reiter

Page range: 31-38

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Abstract

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.

Open Access March 6, 2024

Genetic alterations in lymphoblastic leukaemia / lymphoma – a practical guide to WHO HAEM5

Doris Steinemann, Małgorzata Dawidowska, Lisa J Russell, Christine J Harrison, Gudrun Göhring

Page range: 39-45

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Abstract

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.

Open Access March 6, 2024

Genetic alterations in chronic lymphocytic leukemia and plasma cell neoplasms – a practical guide to WHO HAEM5

Eugen Tausch, Cristina López, Stephan Stilgenbauer, Reiner Siebert

Page range: 47-57

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Abstract

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.

Open Access March 6, 2024

Genetic alterations in mature B- and T-cell lymphomas – a practical guide to WHO-HAEM5

Cristina López, Anja Fischer, Andreas Rosenwald, Reiner Siebert, German Ott, Katrin S. Kurz

Page range: 59-73

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Abstract

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.

BERICHTE AUS DER HUMANGENETIK

Personalia

March 6, 2024

Ein Geburtstagsgruß für Ingo Hansmann zum 80. Geburtstag

André Reis

Page range: 75-76

GfH-Verbandsmitteilungen

March 6, 2024

Einladung zum Syndromtag 2024 in Göttingen vom 04.–05. Oktober

Page range: 77-77

March 6, 2024

Jahresberichte 2023 aus den GfH-Kommissionen und GfH-Arbeitskreisen

Page range: 79-88

BVDH-Verbandsmitteilungen

March 6, 2024

Die neue HGQN-Variantendatenbank

Page range: 89-90

March 6, 2024

Laborqualität sichern – molekular- und zytogenetische Ringversuche des BVDH e. V.

Jürgen Kunz, Susanne Brandt

Page range: 91-92

Volume 36 (2024)

Issue 1

Volume 35 (2023)

Volume 34 (2022)

Volume 33 (2021)

Volume 32 (2020)

Volume 31 (2019)

Volume 30 (2018)

Volume 29 (2017)

Volume 28 (2016)

Volume 27 (2015)

Volume 26 (2014)

Volume 25 (2013)

Volume 24 (2012)

Volume 23 (2011)

Volume 22 (2010)

Volume 21 (2009)

Volume 20 (2008)

Volume 19 (2007)

Journal Impact Factor	1.1	2022, Journal Citation Reports (Clarivate, 2023)
5-year Journal Impact Factor	1.2	2022, Journal Citation Reports (Clarivate, 2023)
Journal Citation Indicator	0.15	2022, Journal Citation Reports (Clarivate, 2023)
CiteScore	0.9	2022, Scopus (Elsevier B.V., 2023)
SCImago Journal Rank	0.240	2022, SJR (Scimago Lab, 2023; Data Source: Scopus)
Source Normalized Impact per Paper	0.154	2022, CWTS Journal Indicators (CWTS B.V., 2023; Data Source: Scopus)

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Editorial

Editor In Chief
Markus Nöthen, Universitätsklinikum Bonn AöR, Germany

Co-Editors
Ute Felbor, Universitätsmedizin Greifswald, Germany
Christian Netzer, Universitätsklinikum zu Köln, Germany
Reiner Siebert, Universitätsklínikum Ulm, Germany
Dagmar Wieczorek, Heinrich-Heine-Universität Düsseldorf, Germany

Editorial Staff (GfH Managing director)
Anja Rössler, Berlin, Deutschland

Graphic Design
Brigitte Fiedler (GfH) Munich, Germany

Scientific Editorial Board
Nuria Brämswig, Uniklinik Essen, Germany
Frank Kaiser, Uniklinik Essen, Germany
Hildegard Kehrer-Sawatzki, Universitätsklinikum Ulm, Germany
Ingo Kurth, Universitätsklinikum der RWTH Aachen, Germany
Deborah Bartholdi, Bern (SGMG), Inselspital Bern, Switzerland
Michael Speicher, Graz (ÖGH), Medizinische Universität Graz, Austria

Owned and published by the German Society of Human Genetics (GfH)

Co-Publishers
Austrian Society of Human Genetics (ÖGH)
Swiss Society of Medical Genetics (SGMG)
Professional Association of German Human Geneticists (BVDH)

(Deutsch)

Online ISSN: 1863-5490
Print ISSN: 0936-5931
Type: Journal
Language: Multiple languages
Publisher: De Gruyter
First published: March 20, 2007
Publication Frequency: 4 Issues per Year