Genetic Predisposition to Clonal Hematopoiesis

Quiros, Pedro M.; Vassiliou, George S.

doi:10.1097/hs9.0000000000000947

HemaSphere

2023

DOI: 10.1097/hs9.0000000000000947

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Genetic Predisposition to Clonal Hematopoiesis

Pedro M. Quiros,

George S. Vassiliou

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2024

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Cited by 2 publications

References 45 publications

(175 reference statements)

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Genetic and environmental risks for clonal hematopoiesis and cancer

Franco,

Godley

2024

Journal of Experimental Medicine

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Somatic variants accumulate in all organs with age, with a positive selection of clonal populations that provide a fitness advantage during times of heightened cellular stress leading to clonal expansion. Easily measured within the hematopoietic compartment, clonal hematopoiesis (CH) is now recognized as a common process in which hematopoietic clones with somatic variants associated with hematopoietic neoplasms exist within the blood or bone marrow of individuals without evidence of malignancy. Most cases of CH involve a limited number of genes, most commonly DNMT3A, TET2, and ASXL1. CH confers risk for solid and hematopoietic malignancies as well as cardiovascular and numerous inflammatory diseases and offers opportunities for cancer prevention. Here, we explore the genetic and environmental factors that predispose individuals to CH with unique variant signatures and discuss how CH drives cancer progression with the goals of improving individual cancer risk stratification, identifying key intervention opportunities, and understanding how CH impacts therapeutic strategies and outcomes.

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Genetic and environmental risks for clonal hematopoiesis and cancer

Franco,

Godley

2024

Journal of Experimental Medicine

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

Hörst,

Kühn,

Haferlach

et al. 2024

Medizinische Genetik

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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.

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Genetic Predisposition to Clonal Hematopoiesis

Cited by 2 publications

References 45 publications

Genetic and environmental risks for clonal hematopoiesis and cancer

Genetic and environmental risks for clonal hematopoiesis and cancer

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

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