Novel Cytogenetic Aberrations in a Patient of Chronic Myeloid Leukemia with Blast Crisis
Published: May 1, 2015 | DOI: https://doi.org/10.7860/JCDR/2015/.5940
Bhoumik Shah, Smeeta Gajendra, Ritu Gupta, Atul Sharma
1. Senior Resident, Department of Laboratory Medicine, AIIMS, New Delhi, India.
2. Attending Consultant, Department of Hematology, Medanta, The Medicity, Gurgaon, Haryana, India.
3. Additional Professor, Department of Laboratory Oncology, AIIMS, New Delhi, India.
4. Professor, Department of Medical Oncology, AIIMS, New Delhi, India.
Correspondence
Dr. Ritu Gupta,
Additional Professor, Laboratory Oncology Unit, Institute Rotary Cancer Hospital,
All India of Institute of Medical Sciences, New Delhi-110029, India.
E-mail: drritugupta@gmail.com
Chronic myeloid leukaemia (CML) is a clonal haematological disease which is characterized by a diagnostic karyotypic abnormality t (9;22)(q34;q11) called as Philadelphia (Ph) chromosome. Occurrence of additional chromosomal abnormalities besides the Ph chromosome is defined as clonal evolution (CE) and considered to be a marker of disease progression. A 67-year-old male who was initially evaluated at a private hospital where a diagnosis of acute promyelocytic leukaemia was made on bone marrow aspirate with ambiguous RT-PCR report referred to our centre for further evaluation and treatment. On conventional karyotyping, Ph chromosome along with translocations t(5;13)(q12;p13), t(15;20)(q22;p13) and monosomy 13 was observed in all 20 metaphases. A final diagnosis of CML-myeloid blast crisis with complex cytogenetics was made. Patient succumbed to death within one month of initiation of imatinib therapy.
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