TY - JOUR
T1 - Assessing clonal haematopoiesis
T2 - clinical burdens and benefits of diagnosing myelodysplastic syndrome precursor states
AU - Gondek, Lukasz P.
AU - DeZern, Amy E.
N1 - Funding Information:
This work was supported by grants from the US National Institute of Health: K08HL136894 (LPG), R21HL143096 (LPG), 1R03HL136797 (AED), and CA006973 (AED).
Publisher Copyright:
© 2020 Elsevier Ltd
PY - 2020/1
Y1 - 2020/1
N2 - Diagnosing, surveilling, and understanding the biological consequences of clonal haematopoiesis poses a clinical challenge for both patients and clinicians. The relationship between peripheral blood cytopenias and myeloid neoplasms—such as myelodysplastic syndrome—is an area of active research, and understanding of clonal haematopoiesis has developed markedly on the basis of findings concerning somatic mutations in genes known to be associated with myelodysplastic syndrome. These findings have raised the conundrum of how to appropriately define and follow myelodysplastic syndrome precursor states, such as clonal haematopoiesis of indeterminate potential (CHIP) and clonal cytopenias of undetermined significance (CCUS). Identifying these conditions could allow earlier diagnosis of myelodysplastic syndrome, modify surveillance for myelodysplastic syndrome, and possibly guide therapies, but this information also comes at a cost to patients that might or might not be justified by our present understanding of clonal haematopoiesis. When faced with a diagnosis of clonal haematopoiesis, some patients and providers might be content to let the events unfold naturally, whereas others may insist on intense follow-up and early interventions. This Viewpoint assesses recent developments in clonal haematopoiesis and the related implications for affected patients and their providers.
AB - Diagnosing, surveilling, and understanding the biological consequences of clonal haematopoiesis poses a clinical challenge for both patients and clinicians. The relationship between peripheral blood cytopenias and myeloid neoplasms—such as myelodysplastic syndrome—is an area of active research, and understanding of clonal haematopoiesis has developed markedly on the basis of findings concerning somatic mutations in genes known to be associated with myelodysplastic syndrome. These findings have raised the conundrum of how to appropriately define and follow myelodysplastic syndrome precursor states, such as clonal haematopoiesis of indeterminate potential (CHIP) and clonal cytopenias of undetermined significance (CCUS). Identifying these conditions could allow earlier diagnosis of myelodysplastic syndrome, modify surveillance for myelodysplastic syndrome, and possibly guide therapies, but this information also comes at a cost to patients that might or might not be justified by our present understanding of clonal haematopoiesis. When faced with a diagnosis of clonal haematopoiesis, some patients and providers might be content to let the events unfold naturally, whereas others may insist on intense follow-up and early interventions. This Viewpoint assesses recent developments in clonal haematopoiesis and the related implications for affected patients and their providers.
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U2 - 10.1016/S2352-3026(19)30211-X
DO - 10.1016/S2352-3026(19)30211-X
M3 - Review article
C2 - 31810765
AN - SCOPUS:85076709159
SN - 2352-3026
VL - 7
SP - e73-e81
JO - The Lancet Haematology
JF - The Lancet Haematology
IS - 1
ER -