Association between gene mutations and certain blood cell indices in patients diagnosed with myelodysplastic neoplasms

Gene mutations play a crucial role in the pathogenesis of myelodysplastic neoplasms (MDS). The present study aimed to assess the association between some gene mutations and certain blood cell indices in patients diagnosed with MDS. The present study was a retrospective cross‑sectional study. Patients newly diagnosed with MDS, who underwent next‑generation sequencing, and which revealed 51 gene mutations, were enrolled in the present study. The peripheral blood cell indices were recorded before commencing treatment. There were 18 mutations to be found. The ASXL1 mutation was the most frequently encountered, followed by the RUNX1, TET2, SF3B1 and TP53 mutations. Patients with the U2AF1 mutation had a lower hemoglobin level, those with BCOR or SRSF2 mutations had a higher percentage of peripheral blood blasts, and those with the SF3B1 mutation had a higher platelet count compared to the group without this mutation. Receiver operating characteristic analysis was performed to determine the optimal cut‑off value for hemoglobin level, platelet count and the percentage of peripheral blood blasts. The optimal cut‑off value for the hemoglobin level to separate the presence of U2AF1 mutation was 56.5. The optimal cut‑off value for the percentage of peripheral blood blasts to separate the presence of BCOR and SRSF2 mutations was 7.5 and 5.5, respectively. The optimal cut‑off value for the platelet count to separate the presence of the SF3B1 mutation was 228.5. The results also revealed that a hemoglobin level 228.5 G/l, and a percentage of peripheral blood blasts >7.5  and >5.5% was associated with U2AF1, SF3B1, BCOR and SRSF2 mutations. On the whole, the present study demonstrates that there is an association between gene mutations and blood cell indices in patients diagnosed with MDS. The U2AF1 mutation is associated with severe anemia, and BCOR and SRSF2 mutations are associated with MDS with increased blast numbers. However, the SF3B1 mutation is related to a good platelet count.