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Updated: Jun 5, 2025

Characterizing Mutational Load and Clonal Composition of Human Blood
Published on: July 11, 2019
[The role of clonal hematopoiesis in the molecular diagnostics of solid tumors]
Zoltán Őrfi1, Attila Kállai2, Dóra Csabán1
1Molekuláris Genetikai Laboratórium, Dél-pesti Centrumkórház, Országos Hematológiai és Infektológiai Intézet, Budapest, Hungary. andrikovics.hajnalka@dpckorhaz.hu.
Abstract:
This review presents the latest molecular genetic diagnostic and clinical aspects related to clonal hematopoiesis of indeterminate potential (CHIP). CHIP belongs to the continuously expanding group of pre-cancerous conditions, increasingly recognized in routine patient care due to the development of molecular diagnostic tools and the increase in life expectancy. The incidence of CHIP mutations increases with age (1-2% in individuals aged 50 years, 15-45% in those aged 80 years). According to international studies, 5-8% of examinations performed on solid tumors may contain erroneous results due to the presence of leukocytes. This rate increases to 10-15% in case of liquid biopsy samples. To avoid misleading diagnostic results, it is recommended to perform comparative analysis of samples from different tissue origins, blood/tumor sample pairs. The authors illustrate CHIP-related alterations affecting targeted therapies for solid tumors (e.g. KRAS, ATM, IDH1, TP53). The impact of CHIP on the detection of germline genetic alterations is also discussed.

