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Case Report Open Access

Concomitant T315I and E459K mutations in chronic myeloid leukemia: A case report

  • Authors:
    • Xin Zhou
    • Shi-Ting Huang
    • Ning-Ning Shan
  • View Affiliations / Copyright

    Affiliations: Department of Hematology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong 250021, P.R. China, Department of Medical Imaging, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong 250021, P.R. China
    Copyright: © Zhou et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 410
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    Published online on: June 24, 2025
       https://doi.org/10.3892/ol.2025.15156
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Abstract

The present report aims to improve the understanding of the clinicopathological features of chronic myeloid leukemia (CML) harboring concomitant T315I and E459K mutations. CML with the T315I mutation alone and in combination with other mutations has demonstrated sensitivity to olverembatinib, a third‑generation tyrosine kinase inhibitor, providing valuable insights into potential treatment strategies for this rare mutational profile. In the present study, a 57‑year‑old woman with a 7‑year history of CML relapsed 1 year after stopping imatinib treatment. The patient presented with right arm pain and bone lesions confirmed by imaging. Laboratory tests and bone marrow analysis confirmed CML in the chronic phase, and the patient initially responded well to dasatinib. After 5 months, severe pancytopenia developed. Next‑generation sequencing (NGS) revealed concomitant T315I and E459K mutations in the breakpoint cluster region‑Abelson tyrosine kinase 1 tyrosine kinase domain, as well as an ASXL transcriptional regulator 1 mutation, indicating progression to the blast phase. Treatment was switched to olverembatinib, and allogeneic hematopoietic stem cell transplantation (allo‑HSCT) was recommended. Overall, patients with multiple mutations in CML tend to have a worse prognosis due to treatment resistance and disease progression. NGS is crucial for detecting low‑frequency mutations and allo‑HSCT also serves a key role in treating high‑risk cases.
View Figures

Figure 1

Imaging findings of the right
humerus. (A) Computed tomography showing bone destruction in the
upper to mid humerus and localized lytic lesions in the scapula.
(B) Magnetic resonance imaging revealing cortical disruption,
heterogeneous signal intensities and surrounding soft-tissue masses
with mixed high and low fat-suppressed T2-weighted imaging signals,
consistent with malignancy. The arrows indicate the lytic bone
lesion

Figure 2

Bone marrow imaging. Severely
decreased proliferative bone marrow images, taken using an optical
microscope at (A) ×100 and (B) ×10 magnification. Both granulocytic
and erythroid lineages exhibited pronounced hypoplasia. Erythroid
precursors were primarily at intermediate and late maturation
stages, while mature erythrocytes displayed marked
anisopoikilocytosis, including occasional elliptocytes and
tear-drop-shaped cells. No megakaryocytes were identified.

Figure 3

DNA sequencing electropherogram
showing the sequence from nucleotide positions 240 to 270. Black G
represents the guanine base; red T represents the thymine base;
blue C represents the cytosine base; green A represents the adenine
base. The sequence of letters at the top represents the
corresponding DNA base sequence. The waveform graph below shows the
peaks for different bases during the electrophoresis process, with
the height of the peaks reflecting the concentration of that base
at that position.

Figure 4

Next-generation sequencing results.
(A) T315I mutation in the ABL1 kinase domain. (B) E459K mutation in
the ABL1 kinase domain. (C) Mutation in ASXL. ABL1, Abelson
tyrosine kinase 1; ASXL, ASXL transcriptional regulator 1 gene.
View References

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Copy and paste a formatted citation
Spandidos Publications style
Zhou X, Huang S and Shan N: Concomitant T315I and E459K mutations in chronic myeloid leukemia: A case report. Oncol Lett 30: 410, 2025.
APA
Zhou, X., Huang, S., & Shan, N. (2025). Concomitant T315I and E459K mutations in chronic myeloid leukemia: A case report. Oncology Letters, 30, 410. https://doi.org/10.3892/ol.2025.15156
MLA
Zhou, X., Huang, S., Shan, N."Concomitant T315I and E459K mutations in chronic myeloid leukemia: A case report". Oncology Letters 30.3 (2025): 410.
Chicago
Zhou, X., Huang, S., Shan, N."Concomitant T315I and E459K mutations in chronic myeloid leukemia: A case report". Oncology Letters 30, no. 3 (2025): 410. https://doi.org/10.3892/ol.2025.15156
Copy and paste a formatted citation
x
Spandidos Publications style
Zhou X, Huang S and Shan N: Concomitant T315I and E459K mutations in chronic myeloid leukemia: A case report. Oncol Lett 30: 410, 2025.
APA
Zhou, X., Huang, S., & Shan, N. (2025). Concomitant T315I and E459K mutations in chronic myeloid leukemia: A case report. Oncology Letters, 30, 410. https://doi.org/10.3892/ol.2025.15156
MLA
Zhou, X., Huang, S., Shan, N."Concomitant T315I and E459K mutations in chronic myeloid leukemia: A case report". Oncology Letters 30.3 (2025): 410.
Chicago
Zhou, X., Huang, S., Shan, N."Concomitant T315I and E459K mutations in chronic myeloid leukemia: A case report". Oncology Letters 30, no. 3 (2025): 410. https://doi.org/10.3892/ol.2025.15156
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