Differences in severity of anemia, white blood cell count, or monocytosis was associated with underlying mutations present among patients with myelodysplastic syndromes (MDS) or MDS/myeloproliferative disorders (MPN), according to an the results of a prospective study published in the journal Hematology.

It is unknown whether genetic mutations may be a cause of differences in the extent of cytopenias vary among patients with MDS and MDS/MPN. The aim of this study was to determine if mutations in MDS or MDS/MPN affect blood counts.

The study evaluated data from 168 patients with MDS or MDS/MPN from 4 centers in Thailand, using targeted next-generation sequencing to identify genetic aberrations to compare with clinical outcomes.

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At baseline, the median age was 71 and 51.2% of patients were female. There were 55% of patients with low-risk MDS, 34% with high-risk MDS, and 11% with MDS/MPN. Patients with MDS/MPN had a higher median white blood cell and platelet count, whereas patients with MDS were more likely to have a normal karyotype.

Mutations were more commonly present among patients with MDS/MPN at 94.7% compared with 56.5% of patients with low-risk MDS (P <.001). The median number of mutations per patient was 3 in MDS/MPN and 1 in low-risk MDS (P <.001).

Overall, the most common site of mutations detected was TET2, occurring in 16.7% of patients, followed by ASXL1 in 14.9% and SRSF2 in 13.1%.

Anemia was significantly associated with SF3B1 mutations (P =.02), whereas more severe leukopenia was associated with U2AF1 mutations (P =.02) and monocytosis was associated with KRAS mutations (P <.001) compared with their wild-type counterparts.

Shorter overall survival was associated with complex karyotypes, neutropenia, and 2 or more mutations per gene.

In a multivariate analysis, a higher risk of mortality was associated with an absolute neutrophil count below 0.5 x 109/L (hazard ratio [HR], 4.03; 95% CI, 2.16-7.53; P <.001) and harboring more than 2 mutations (HR, 2.6; 95% CI, 1.24-5.47; P =.01). A greater risk of mortality was also associated with mutations in ASXL1 (HR, 1.75; 95% CI, 1.03-2.99; P =.04) and SETBP1 (HR, 2.33; 95% CI, 1.11-4.87; P =.03).

The authors concluded that “variations in blood cell counts in MDS and MDS/MPN were correlated with mutations in splicing factor genes.”


Polprasert C, Kongkiatkamon S, Niparuck P, et al. Genetic mutations associated with blood count abnormalities in myeloid neoplasms. Hematology. 2022;27:1. doi: 10.1080/16078454.2022.2094134