Prevalence and Risk Factors of Clonal Hematopoiesis of Indeterminate Potential in Patients on Long-Term Hemodialysis

Background: Clonal hematopoiesis of indeterminate potential (CHIP) and clonal cytopenia of undetermined significance (CCUS) are characterized by the presence of genetic mutations in hematopoietic stem cells, without or with abnormal blood counts, respectively, and are associated with progression to myeloid neoplasms. However, the prevalence, risk factors, and mutation profiles of CHIP among end-stage renal disease (ESRD) patients undergoing hemodialysis have not yet been reported. Methods: A total of 51 ESRD patients undergoing hemodialysis, with either normal or abnormal hemograms, were enrolled. Peripheral blood samples were collected for next-generation sequencing to detect mutations in 47 genes. Results: CHIP mutations were identified in 83.3% of patients. The most prevalent mutations were in BCORL1 (43.1%), GNAS (27.4%), and BCOR (23.5%). The prevalence of autoimmune disease was higher in the non-CHIP/CCUS group compared to the CHIP/CCUS group (42.9% vs. 11.4%, p = 0.042). A clonal hematopoiesis risk score (CHRS) was calculated to categorize patients into low-risk (11.4%), intermediate-risk (65.7%), and high-risk (22.9%) groups for progression to myeloid neoplasms. The low-risk CHRS group had a significantly higher platelet count (202.5 ± 81.3 vs. 127.0 ± 39.5 ×103/µL, p = 0.006) compared to the intermediate-risk group, and a higher serum phosphate level (5.65 ± 0.90 vs. 4.13 ± 0.50 mg/dL, p = 0.003) compared to the high-risk group. Conclusion: This is the first domestic cohort study investigating CHIP mutations in ESRD patients undergoing hemodialysis. Future applications aim to identify patients at high risk of progression to myeloid neoplasms and to predict overall survival in this population. Funding: Government Support – Non-U.S.