Published December 22, 2021 | Version v1
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Link to dataset related to article "Clinical relevance of clonal hematopoiesis in persons aged ≥80 years"

  • 1. IRCCS Humanitas Research Hospital, via Manzoni 56, 20072 Rozzano (Mi) - Italy
  • 2. Munich Leukemia Laboratory (MLL), Munich, Germany
  • 3. Laboratory of Geriatric Neuropsychiatry, Department of Neuroscience, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy
  • 4. IRCCS Humanitas Research Hospital, via Manzoni 56,20089 Rozzano (Mi) - Italy AND Humanitas University, Department of Biomedical Sciences, Via Rita Levi Montalcini 4, 20072 Pieve Emanuele – Milan, Italy
  • 5. Institute of Biomedical Technologies, National Research Council, Milan, Italy
  • 6. Department of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy
  • 7. Unit of Biostatistics, Epidemiology, and Public Health, Department of Statistics and Quantitative Methods, University of Milano-Bicocca, Milan, Italy
  • 8. Department of Physics and Astronomy, University of Bologna, Bologna, Italy
  • 9. Humanitas Clinical and Research Center – IRCCS -, via Manzoni 56, 20089 Rozzano (Mi) – Italy
  • 10. Laboratory of Analysis, Ospedale degli Infermi, Biella, Italy
  • 11. Dipartimento di Prevenzione - Azienda Sanitaria Locale (ASL) Biella, Biella, Italy
  • 12. Piedmont Cancer Registry, Centre for Epidemiology and Prevention in Oncology, Turin, Italy
  • 13. Hematology, Azienda Socio Sanitaria Territoriale (ASST) Sette Laghi, Ospedale di Circolo of Varese, University of Insubria, Varese, Italy
  • 14. Institut de Recerca Contra la Leucèmia Josep Carreras, Camí de les Escoles, Barcelona, Spain
  • 15. Medical Clinic and Policlinic 1, Hematology and Cellular Therapy, University Hospital Leipzig, Leipzig, Germany
  • 16. ervice d'Hématologie Séniors, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, Université Paris, Paris, France
  • 17. Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy
  • 18. Department of Haematology, Cambridge University Hospitals National Health Service Trust, Cambridge, United Kingdom


This record contains data related to article "Clinical relevance of clonal hematopoiesis in persons aged ≥80 years"

Clonal hematopoiesis of indeterminate potential (CHIP) is associated with increased risk of cancers and inflammation-related diseases. This phenomenon becomes common in persons aged ≥80 years, in whom the implications of CHIP are not well defined. We performed a mutational screening in 1794 persons aged ≥80 years and investigated the relationships between CHIP and associated pathologies. Mutations were observed in one-third of persons aged ≥80 years and were associated with reduced survival. Mutations in JAK2 and splicing genes, multiple mutations (DNMT3A, TET2, and ASXL1 with additional genetic lesions), and variant allele frequency ≥0.096 had positive predictive value for myeloid neoplasms. Combining mutation profiles with abnormalities in red blood cell indices improved the ability of myeloid neoplasm prediction. On this basis, we defined a predictive model that identifies 3 risk groups with different probabilities of developing myeloid neoplasms. Mutations in DNMT3A, TET2, ASXL1, or JAK2 were associated with coronary heart disease and rheumatoid arthritis. Cytopenia was common in persons aged ≥80 years, with the underlying cause remaining unexplained in 30% of cases. Among individuals with unexplained cytopenia, the presence of highly specific mutation patterns was associated with myelodysplastic-like phenotype and a probability of survival comparable to that of myeloid neoplasms. Accordingly, 7.5% of subjects aged ≥80 years with cytopenia had presumptive evidence of myeloid neoplasm. In summary, specific mutational patterns define different risk of developing myeloid neoplasms vs inflammatory-associated diseases in persons aged ≥80 years. In individuals with unexplained cytopenia, mutational status may identify those subjects with presumptive evidence of myeloid neoplasms.



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Additional details

Related works

Is supplement to
10.1182/blood.2021011320 (DOI)
34125889 (PMID)