A novel five-way complex translocation t(9;10;15;21;22)(q34;p11.2;q22;q22;q11.2) in a Chronic myeloid leukemia patient
Year: 2025
Type: article
Study design: Case Report
Abstract: Background: The BCR::ABL1 gene fusion is the hallmark of chronic myeloid leukemia (CML). Variant Philadelphia chromosome (Ph)-positive cases with complex chromosomal rearrangements involving additional chromosomes occur in 4-11% of c ases, but their prognostic significance remains unclear. Methods: A 20-year-old male presenting with leukocytosis and anemia was evaluated using conventional cytogenetics, fluorescence in situ hybridization (FISH), and reverse transcription PCR (RT-PCR) to identify chromosomal abnormalities and BCR::ABL1 transcript type. Results: Cytogenetic analysis revealed a novel balanced five-way translocation: 46,XY,t(9;10;15;21;22) (q34;p11.2;q22;q22;q11.2). FISH confirmed the BCR::ABL1 fusion in 97% of nuclei, and RT-PCR detected the e13a2 (p210) BCR::ABL1 transcript. The patient exhibited rapid progression to blast crisis and resistance to first-line imatinib therapy. Conclusion: This novel five-way translocation in Ph-positive CML highlights the importance of comprehensive cytogenetic and molecular characterization to detect rare variants that may influence treatment response and prognosis.
Institution: Dr. Lal PathLabs Pvt Ltd (India)
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7117555378