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. 2022 Jul;26(13):3797-3801.
doi: 10.1111/jcmm.17424. Epub 2022 Jun 12.

Evaluating the frequency, prognosis and survival of RUNX1 and ASXL1 mutations in patients with acute myeloid leukaemia in northeastern Iran

Mohammad Parsa-Kondelaji  1 , Hossein Ayatollahi  2 , Mehrdad Rostami  1 , Maryam Sheikhi  2 , Faezeh Barzegar  1 , Monnavar Afzalaghaee  3 , Elmira Moradi  2 , Mohammad Hadi Sadeghian  2 , Amir Abbas Momtazi-Borojeni  4
Affiliations

Evaluating the frequency, prognosis and survival of RUNX1 and ASXL1 mutations in patients with acute myeloid leukaemia in northeastern Iran

Mohammad Parsa-Kondelaji et al. J Cell Mol Med. 2022 Jul.

Abstract

To evaluate the frequency and prognosis of runt-related transcription factor 1 (RUNX1) and additional sex combs like-1 (ASXL1) mutations in acute myeloid leukaemia (AML) patients in northeastern Iran. This cross-sectional study was performed on 40 patients with AML (including 35 patients with denovo AML and five patients with secondary AML) from February 2018 to February 2021. All patients were followed up for 36 months. We evaluated the frequency and survival rate of RUNX1 and ASXL1 mutations in AML patients. To detect mutations, peripheral blood samples and bone marrow aspiration were taken from all participants. One male patient (2.5%) had RUNX1 mutations and four cases (10%; 3 females vs. 1 male) had ASXL1 mutations. The survival rates of AML patients after 1, 3, 6, 9, 12, 24 and 36 months were 98%, 90%, 77%, 62%, 52%, 27% and 20%, respectively. There was a significant relationship between the occurrence of ASXL1 mutations and the survival of patients with AML (p = 0.027). Also, there was a significant relationship between the incidence of death and haemoglobin levels in patients with AML (p = 0.045). Thus, with an increase of one unit in patients' haemoglobin levels, the risk of death is reduced by 16.6%. Patients with AML had a high mortality rate, poor therapy outcome and low survival rate. ASXL1 and RUNX1 mutations are associated with a worse prognosis in patients with newly diagnosed AML. Also, we witnessed that the prevalence of ASXL1 to RUNX1 mutations was higher in northeastern Iran compared with other regions.

Keywords: ASXL1; RUNX1; acute myeloid leukaemia; mutation; prognosis; survival.

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Conflict of interest statement

The authors declare that there are no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
Survival of patients with acute myeloid leukaemia
FIGURE 2
FIGURE 2
Survival of patients with acute myeloid leukaemia in terms of ASXL1 mutation
See this image and copyright information in PMC

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