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Chronic idiopathic neutropenia (CIN) is defined as a continuous decrease in the absolute neutrophil count in the peripheral blood (PB)
.
In adults, CIN mainly affects middle-aged women and usually manifests as a single course.
The incidence of solitary neutropenia in patients with unexplained idiopathic neutropenia (ICUS), that is, ICUS-N or chronic idiopathic neutropenia (CIN), and the incidence of clonal hematopoiesis and The meaning is not yet clear
.
The purpose of this study is to use next-generation sequencing technology in long-term follow-up CIN patients (n=185) to study the frequency and clinical significance of gene mutations associated with myeloid malignancies
.
Mutation Carrying Situation
The researchers found that 21 of the 185 patients (11.
35%) had 25 systemic mutations in 6 genes, and the median mutation allele frequency was 12.
75%
.
The most common mutant genes are DNMT3A and TET2, which are seen in more than 80% of patients, followed by IDH1/2, SRSF2 and ZRSR2
21 out of 185 patients (11.
In the total study population, the incidence of conversion to myeloid malignancies is very low (5/185 [2.
Distribution of mutations
In all cases, the mutational allele frequency of mutant clones in transformed patients was >10%, and the genes with the strongest correlation with malignant transformation were SRSF2 and IDH1
.
In terms of the severity of neutropenia, there was no significant difference between the clonal group and the non-clonal group
The genes with the strongest correlation with malignant transformation are SRSF2 and IDH1 .
diagnosis
Original source:
Original source:Grigorios Tsaknakis, et al.
Incidence and prognosis of clonal hematopoiesis in patients with chronic idiopathic neutropenia in this message
