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Adult B-Cell Acute Lymphoblastic Leukemia with Complex Variant Translocation t(9;11;22) (q34;q13;q11) and FISH/Molecular Biology Discordance: A Case Report

DOI : https://doi.org/10.36349/easjbg.2026.v08i04.001
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Introduction: The Philadelphia chromosome (Ph), resulting from the t(9;22) (q34;q11) translocation, is the most common cytogenetic abnormality in adult acute lymphoblastic leukemia (ALL). Complex variant translocations (vPh) involving a third chromosome are rare, and the involvement of the 11q13 locus (CCND1) is exceptional. Case Presentation: We report the case of a 67-year-old male presenting with systemic symptoms, splenomegaly, and hyperleukocytosis at 80,000/µL. Bone marrow aspirate and immunophenotyping led to a diagnosis of common B-cell ALL (B-ALL II). Cytogenetic analysis revealed a complex translocation t(9;11;22) (q34;q13;q11). Fluorescence in situ hybridization (FISH) confirmed a rearrangement involving the BCR, ABL1, and CCND1 genes. Unexpectedly, RT-PCR testing for BCR-ABL1 fusion transcripts (p190, p210, and p230) returned negative results. Conclusion: This case illustrates an atypical cytogenetic presentation of B-ALL and underscores the importance of an integrated diagnostic approach. The discordance between FISH and RT-PCR suggests the presence of a cryptic breakpoint or an alternative fusion transcript, highlighting the need for next-generation sequencing (NGS/RNA-Seq) to optimize therapeutic management.

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Professor Thomas Count Dracula, MD, PhD

Distinguished Professor of Haematology Head — Experimental, Historical & Sensory Haematology Vlad the Impaler University, Wolf’s Lane, Wooden Stakes Grove 666, Transylvania.

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