Erythrocytosis in the general population: clinical characteristics and association with clonal hematopoiesis
| Autor: | Andre B. Mulder, Gerwin Huls, Jan Jacob Schuringa, Arjan Diepstra, Pim van der Harst, Isabelle A van Zeventer, René Mulder, Melanie M. van der Klauw, Hanneke J C M Wouters |
|---|---|
| Přispěvatelé: | Stem Cell Aging Leukemia and Lymphoma (SALL), Life Course Epidemiology (LCE), Cardiovascular Centre (CVC), Guided Treatment in Optimal Selected Cancer Patients (GUTS) |
| Rok vydání: | 2020 |
| Předmět: |
Male
medicine.medical_specialty MYELOPROLIFERATIVE NEOPLASMS LIFELINES Population CANCER-RISK Polycythemia 030204 cardiovascular system & hematology POLYCYTHEMIA-VERA DIAGNOSIS CLASSIFICATION Epigenesis Genetic 03 medical and health sciences 0302 clinical medicine Red Cells Iron and Erythropoiesis Internal medicine medicine Humans Leukocytosis education Polycythemia Vera education.field_of_study Hematology Thrombocytosis business.industry MORTALITY Hazard ratio Odds ratio SOMATIC MUTATIONS medicine.disease Confidence interval MYOCARDIAL-INFARCTION 030220 oncology & carcinogenesis Cohort Mutation SURVIVAL Female medicine.symptom Clonal Hematopoiesis business |
| Zdroj: | Blood Adv Blood, 4(24), 6353-6363. AMER SOC HEMATOLOGY |
| ISSN: | 2473-9537 0006-4971 |
| Popis: | Erythrocytosis is a common reason for referral to hematology services and is usually secondary in origin. The aim of this study was to assess clinical characteristics and clonal hematopoiesis (CH) in individuals with erythrocytosis in the population-based Lifelines cohort (n = 147 167). Erythrocytosis was defined using strict (World Health Organization [WHO] 2008/British Committee for Standards in Hematology) and wide (WHO 2016) criteria. Individuals with erythrocytosis (strict criteria) and concurrent leukocytosis and/or thrombocytosis were 1:2 matched with individuals with isolated erythrocytosis and analyzed for somatic mutations indicative of CH (≥5% variant allele frequency). One hundred eighty five males (0.3%) and 223 females (0.3%) met the strict criteria, whereas 4868 males (7.6%) and 309 females (0.4%) met the wide criteria. Erythrocytosis, only when defined using strict criteria, was associated with cardiovascular morbidity (odds ratio [OR], 1.8; 95% confidence interval [CI], 1.2-2.6), cardiovascular mortality (hazard ratio [HR], 2.2; 95% CI, 1.0-4.6), and all-cause mortality (HR, 1.7; 95% CI, 1.2-2.6), independent of conventional risk factors. Mutations were detected in 51 of 133 (38%) evaluable individuals, with comparable frequencies between individuals with and without concurrent cytosis. The JAK2 V617F mutation was observed in 7 of 133 (5.3%) individuals, all having concurrent cytosis. The prevalence of mutations in BCOR/BCORL1 (16%) was high, suggesting aberrant epigenetic regulation. Erythrocytosis with CH was associated with cardiovascular morbidity (OR, 9.1; 95% CI, 1.2-68.4) in a multivariable model. Our data indicate that only when defined using strict criteria erythrocytosis is associated with cardiovascular morbidity (especially in the presence of CH), cardiovascular mortality, and all-cause mortality. |
| Databáze: | OpenAIRE |
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