Clinical Case Report Of Chronic Myeloid Leukemia With A Variant Translocation
DOI:
https://doi.org/10.64149/J.Ver.8.14s.223-228Keywords:
chronic myeloid leukemia, cytogenetic analysis, chromosomal abnormalities, variant translocationsAbstract
Background. In the vast majority of cases, patients with chronic myeloid leukemia (CML) exhibit the classical translocation t(9;22)(q34;q11.2). However, in 5–10% of cases, a chromosomal rearrangement known as a variant translocation is observed, in which additional chromosomes, along with chromosomes 9 and 22, are involved. The prognostic significance of variant translocations remains a controversial issue to date.
Objective. To present a clinical case of chronic myeloid leukemia with a variant translocation t(5;6;9;22)(p15;q26;q22q34;q11.2) and absence of hematological and cytogenetic responses to first-generation tyrosine kinase inhibitor (TKI) therapy.
Materials and Methods. Standard cytogenetic analysis (SCA) of bone marrow and peripheral blood cells from a patient born in 1974 diagnosed with chronic myeloid leukemia.
Results. A variant translocation t(5;6;9;22)(p15;q26;q22q34;q11.2) was identified in this Ph-positive CML patient. Clinical observation revealed the absence of hematological and cytogenetic responses to imatinib therapy, which may be associated with the involvement of additional genetic loci in the pathogenetic translocation.
Conclusion. To draw a definitive conclusion regarding the prognostic value of variant translocations, it is necessary to analyze not only the involved chromosomes and chromosomal loci but also to assess the mutational status of BCR::ABL1, monitor the dynamics of clinical and laboratory parameters, and evaluate the response to TKI therapy.
