Genetic studies in clonal haematopoiesis, myelodysplastic neoplasms and acute myeloid leukaemia - a practical guide to WHO-HAEM5.
Katharina HörstConstanze KühnClaudia HaferlachTorsten HaferlachJoseph D KhouryPublished in: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V (2024)
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.
Keyphrases
- acute myeloid leukemia
- bone marrow
- machine learning
- dendritic cells
- deep learning
- liver failure
- genome wide
- healthcare
- allogeneic hematopoietic stem cell transplantation
- respiratory failure
- copy number
- gene expression
- dna methylation
- high throughput
- hepatitis b virus
- intellectual disability
- aortic dissection
- climate change
- risk assessment
- autism spectrum disorder
- acute respiratory distress syndrome
- extracorporeal membrane oxygenation