Improved diagnostic screening and classification of clonal mast cell diseases by ultrasensitive KIT p.D816V detection.

ABSTRACT:

Abstract

Detection of KIT p.D816V is a cornerstone in the diagnosis and classification of mast cell activation syndromes (MCAS) and mastocytosis. However, KIT p.D816V may be undetected due to a low mutated-cell burden in the blood and bone marrow (BM) of many patients, particularly those without skin lesions. These findings underscore the need for ultrasensitive molecular techniques for the detection of KIT p.D816V in these clinical settings. Here, we evaluated, to our knowledge, for the first time, the sensitivity and specificity of a novel Flow-SuperRCA KIT p.D816V assay, compared with conventional allele-specific oligonucleotide quantitative polymerase chain reaction (ASOqPCR), through the analysis of 548 blood and BM samples from 337 adult patients with MCAS and mastocytosis. O

SUBMITTER: Navarro-Navarro P 

PROVIDER: S-EPMC12883851 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature