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Background <p>Chronic myeloid leukemia is defined by the BCR/ABL1 fusion gene resulting from the t(9;22)(q34;q11) translocation. While most patients respond favorably to tyrosine kinase inhibitor therapy, additional chromosomal abnormalities may markedly influence disease behavior and prognosis. The concurrent presence of del(5q) and monosomy 7 at the time of diagnosis in BCR/ABL1-positive CML has not been systematically investigated, and this cytogenetic combination is suspected to be associated with a high-risk genomic profile. In such patient groups, disease course, therapeutic response, and prognosis should be evaluated with particular attention.</p> Case presentation <p>A 40-year-old male patient was diagnosed with accelerated-phase CML. Initial laboratory findings included hemoglobin 48.0&#xa0;g/L, leukocyte count 14.7 × 10⁹/L, platelet count 276.0 × 10⁹/L, and lactate dehydrogenase levels elevated to 1.8 times the upper limit of normal. The patient’s medical history revealed no prior exposure to chemotherapy, radiotherapy, or toxic agents. Cytogenetic analysis identified the karyotype 45,XY, t(9;22)(q34;q11),del(5)(q13.3),-7. FISH analysis confirmed BCR/ABL1 fusion (88%), del(5q) (75%), and monosomy 7 (82%). RT-qPCR demonstrated a BCR/ABL1 (IS) level of 52.443%. Despite treatment with imatinib (400&#xa0;mg/day), the patient exhibited primary resistance, and a fatal outcome occurred 2 months and 13 days after diagnosis.</p> Methods <p>Cytogenetic and molecular analyses were performed using conventional karyotyping, fluorescence in situ hybridization (FISH), and quantitative real-time polymerase chain reaction (RT-qPCR) on bone marrow and peripheral blood samples.</p> Conclusion <p>The concurrent presence of BCR/ABL1, del(5q), and monosomy 7 may represent a rare and high-risk subgroup of CML and may be associated with primary resistance to tyrosine kinase inhibitors and rapid clinical progression. In such cases, early transition to second-generation TKIs and timely evaluation for allogeneic hematopoietic stem cell transplantation may be recommended.</p>

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A rare cytogenetic constellation in chronic myeloid leukemia: concurrent Philadelphia chromosome, del(5q), and monosomy 7 at diagnosis

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年6月20日

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  • Aypara Hasanova,
  • Chingiz Asadov,
  • Aytan Shirinova,
  • Gunay Aliyeva,
  • Zohra Alimirzoyeva

摘要

Background

Chronic myeloid leukemia is defined by the BCR/ABL1 fusion gene resulting from the t(9;22)(q34;q11) translocation. While most patients respond favorably to tyrosine kinase inhibitor therapy, additional chromosomal abnormalities may markedly influence disease behavior and prognosis. The concurrent presence of del(5q) and monosomy 7 at the time of diagnosis in BCR/ABL1-positive CML has not been systematically investigated, and this cytogenetic combination is suspected to be associated with a high-risk genomic profile. In such patient groups, disease course, therapeutic response, and prognosis should be evaluated with particular attention.

Case presentation

A 40-year-old male patient was diagnosed with accelerated-phase CML. Initial laboratory findings included hemoglobin 48.0 g/L, leukocyte count 14.7 × 10⁹/L, platelet count 276.0 × 10⁹/L, and lactate dehydrogenase levels elevated to 1.8 times the upper limit of normal. The patient’s medical history revealed no prior exposure to chemotherapy, radiotherapy, or toxic agents. Cytogenetic analysis identified the karyotype 45,XY, t(9;22)(q34;q11),del(5)(q13.3),-7. FISH analysis confirmed BCR/ABL1 fusion (88%), del(5q) (75%), and monosomy 7 (82%). RT-qPCR demonstrated a BCR/ABL1 (IS) level of 52.443%. Despite treatment with imatinib (400 mg/day), the patient exhibited primary resistance, and a fatal outcome occurred 2 months and 13 days after diagnosis.

Methods

Cytogenetic and molecular analyses were performed using conventional karyotyping, fluorescence in situ hybridization (FISH), and quantitative real-time polymerase chain reaction (RT-qPCR) on bone marrow and peripheral blood samples.

Conclusion

The concurrent presence of BCR/ABL1, del(5q), and monosomy 7 may represent a rare and high-risk subgroup of CML and may be associated with primary resistance to tyrosine kinase inhibitors and rapid clinical progression. In such cases, early transition to second-generation TKIs and timely evaluation for allogeneic hematopoietic stem cell transplantation may be recommended.