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Background <p>The genetic heterogeneity observed in acute myeloid leukemia (AML) contributes to a wide range of clinical presentations and prognoses. We conducted a retrospective study to investigate genetic abnormalities, clinical characteristics, and survival of AML patients.</p> Methods <p>Targeted exome analysis of 25 genes using a QIAact Myeloid DNA UMI Panel with the GeneReader NGS was performed.</p> Results <p>De novo AML (dAML) and secondary AML (sAML) were observed in 163 and 56 patients, respectively. <i>ASXL1</i>,<i> SRSF2</i>, and <i>RUNX1</i> mutations were significantly observed in sAML patients. Among dAML patients, mutant <i>IDH1</i>,<i> ASXL1</i>,<i> TP53</i>, and <i>TET2</i> were associated with low WBC count (&lt; 4 × 10<sup>9</sup>/L), and mutations of <i>FLT3-ITD</i> and <i>NPM1</i> were associated with high WBC count (&gt; 100 × 10<sup>9</sup>/L). In dAML group, <i>KIT</i> and <i>FLT3-TKD</i> mutations were commonly found in favorable cytogenetic risk, <i>RAS</i> and <i>SF3B1</i> mutations were significantly observed in the abnormal chromosome 3 group, whereas <i>IDH1</i>, <i>IDH2</i>,<i> RUNX1</i>, and <i>SRSF2</i> mutations were significantly observed in trisomy group. Mutant <i>TP53</i> was seen significantly in AML patients with complex and monosomy karyotypes. <i>ASXL1</i>, <i>IDH1</i>, <i>IDH2</i>, <i>TP53</i>, and <i>SRSF2</i> mutations were independent factors associated with poor OS through univariate analysis. Nevertheless, multivariate analysis showed <i>IDH1</i> (HR = 2.699; 95% CI: 1.331–5.473), <i>TP53</i> (HR = 2.200; 95% CI: 1.409–3.435) and <i>ASXL1</i> (HR = 1.592; 95% CI: 1.040–2.436) mutations were significantly associated with short OS in AML patients. In contrast, <i>RUNX1</i> (HR = 3.667; 95% CI: 1.213–11.084) and <i>DNMT3A</i> (HR = 2.094; 95% CI: 1.080–4.081) mutations were significantly associated with poor DFS on multivariate analysis.</p> Conclusions <p>The complexity of AML was influenced by various cytogenetic and molecular abnormalities, which contributed to patients’ heterogeneous presentation and survival outcomes. In addition to the previous data, <i>IDH1</i>, <i>IDH2</i>, and <i>DNMT3A</i> mutations might have affected survival outcomes in AML patients in our retrospective cohort. However, further studies with larger sample sizes are needed to validate these observations.</p>

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Molecular abnormalities and clinical features in adult patients with acute myeloid leukemia in Thailand

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月12日

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  • Pichika Chantrathammachart,
  • Artit Jinawath,
  • Teeraya Puavilai,
  • Lalida Arsa,
  • Pornnapa Police,
  • Phichchapha Noikongdee,
  • Tichayapa Phojanasenee,
  • Pakatorn Sae-Lim,
  • Thanakrit Piyajaroenkij,
  • Phatsorn Choksomnuk,
  • Suporn Chuncharunee,
  • Pimjai Niparuck

摘要

Background

The genetic heterogeneity observed in acute myeloid leukemia (AML) contributes to a wide range of clinical presentations and prognoses. We conducted a retrospective study to investigate genetic abnormalities, clinical characteristics, and survival of AML patients.

Methods

Targeted exome analysis of 25 genes using a QIAact Myeloid DNA UMI Panel with the GeneReader NGS was performed.

Results

De novo AML (dAML) and secondary AML (sAML) were observed in 163 and 56 patients, respectively. ASXL1, SRSF2, and RUNX1 mutations were significantly observed in sAML patients. Among dAML patients, mutant IDH1, ASXL1, TP53, and TET2 were associated with low WBC count (< 4 × 109/L), and mutations of FLT3-ITD and NPM1 were associated with high WBC count (> 100 × 109/L). In dAML group, KIT and FLT3-TKD mutations were commonly found in favorable cytogenetic risk, RAS and SF3B1 mutations were significantly observed in the abnormal chromosome 3 group, whereas IDH1, IDH2, RUNX1, and SRSF2 mutations were significantly observed in trisomy group. Mutant TP53 was seen significantly in AML patients with complex and monosomy karyotypes. ASXL1, IDH1, IDH2, TP53, and SRSF2 mutations were independent factors associated with poor OS through univariate analysis. Nevertheless, multivariate analysis showed IDH1 (HR = 2.699; 95% CI: 1.331–5.473), TP53 (HR = 2.200; 95% CI: 1.409–3.435) and ASXL1 (HR = 1.592; 95% CI: 1.040–2.436) mutations were significantly associated with short OS in AML patients. In contrast, RUNX1 (HR = 3.667; 95% CI: 1.213–11.084) and DNMT3A (HR = 2.094; 95% CI: 1.080–4.081) mutations were significantly associated with poor DFS on multivariate analysis.

Conclusions

The complexity of AML was influenced by various cytogenetic and molecular abnormalities, which contributed to patients’ heterogeneous presentation and survival outcomes. In addition to the previous data, IDH1, IDH2, and DNMT3A mutations might have affected survival outcomes in AML patients in our retrospective cohort. However, further studies with larger sample sizes are needed to validate these observations.