Paired matched normal sequencing to accurately identify somatic clonal hematopoiesis mutations in solid tumor tissue and plasma specimens

Clonal hematopoiesis (CH), characterized by the presence of somatic mutations in blood cells, can be found in cancer-related genes when sequencing tumor tissue or plasma samples. Inability to distinguish somatic, tumor-derived mutations from CHm can lead to inaccurate treatment decisions. The most accurate way to discriminate clonal hematopoiesis mutations from cancer-associated mutations is to perform sequencing on matched normal samples along with tumor tissue or ctDNA, which is not routine in clinical settings.

This prospective study confirmed CHm that could have been misidentified as tumor-derived mutations in solid tumors by sequencing and analysis of paired matched normal (PMN) specimens.