Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing.

This study investigates the genetic components associated with mast cell activation syndrome (MCAS) by analyzing mutations in peripheral blood leukocytes using next-generation sequencing (NGS). Researchers examined whether MCAS patients harbor somatic mutations in genes associated with systemic mastocytosis (SM) or if such mutations are actually germline. A total of 67 germline mutations were identified, but no somatic mutations were found, possibly due to the mixing of mutated mast cell DNA with normal leukocyte DNA. The germline mutations were not definitively linked to MCAS, though some may be relevant to the disease's familial occurrence. This suggests the need for further replication studies to explore these potential links.