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The study of the impact of additional chromosomal aberrations and c-MYC and BCR::ABL1 genes amplification on CML patient’s characteristics: relation to haematological parameters and patient outcome
Ist Teil von
Egyptian Journal of Medical Human Genetics, 2023-12, Vol.24 (1), p.78, Article 78
Ort / Verlag
Cairo: Springer
Erscheinungsjahr
2023
Quelle
EZB-FREE-00999 freely available EZB journals
Beschreibungen/Notizen
Abstract
Background
Chronic myeloid leukaemia is characterised by genetic instability which results in additional cytogenetic aberrations that have been linked to progression to advanced phase. Genomic study linked amplified genes in the form of
c-MYC
and/or the rare
BCR::ABL1
genes amplification to chronic myeloid leukaemia. The effect of these genes’ amplification on patients’ characteristics and disease progression still needs further study.
This cross-sectional study aimed to investigate the frequency of additional chromosomal aberrations in addition to
c-MYC
and
BCR::ABL
1 genes amplification in chronic myeloid leukaemia patients and their impact on patient’s characteristics, disease progression, and level of remission. The study included cytogenetic analysis of 49 Philadelphia positive chronic myeloid leukaemia patients and investigation of
c-MYC
and
BCR::ABL1
genes amplification by fluorescence in situ hybridization.
Results
Patients with additional chromosomal aberrations represented 36.7% and had significantly lower platelet count (
P
= 0.003) and higher blast count (
P
= 0.008). The acquisition of additional chromosomal aberrations was significantly higher in chronic myeloid leukaemia patients with advanced stages (
P
= 0.014). Follow-up of the patients for 6 months revealed significant higher frequency of additional chromosomal aberrations in patients with failure of remission (
P
< 0.0001). A highly significant association between cases with failure of molecular remission (
P
= 0.001) and co-existing additional chromosomal aberrations.
Amplification of the
c-MYC
gene was detected in 6 cases. The cases with
c-MYC
amplification showed significantly higher peripheral blood and bone marrow blasts (
P
= 0.029 and
P
= 0.008, respectively) and significantly lower platelet count (
P
= 0.044). Amplification of
c-MYC
was significantly associated with additional chromosomal aberrations (
P
= 0.011). Molecular remission was not achieved in any of the instances with
c-MYC
amplification. A highly significant association between
c-MYC
amplification and poor patient outcome was detected (
P
= 0.002).
BCR::ABL1
amplification was detected in three cases, and
ABL
amplification was detected in four cases. Patients with
BCR::ABL1
amplification showed significantly higher blast count.
BCR::ABL1
amplification was significantly associated with disease progression and failure of molecular remission (
P
= 0.002).
Conclusion
Additional chromosomal aberrations,
c-MYC
amplification, and
BCR:ABL1
amplification in chronic myeloid leukaemia stratify patients with disease progression, which may lead to better interventions and improved outcome in the future chronic myeloid leukaemia patients.