Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

In Philadelphia-positive CML, abnormalities of chromosome 20 were detected, which were associated, in the majority of cases, with clonal evolution and disease progression to accelerated phase or blastic crisis.Our work aimed to study the prevalence of chromosome 20q aberrations in an Egyptian cohort ofPh-positive CML and to evaluate the correlation of these genetic defects with the clinical presentation, laboratory data, disease progression and evolution into accelerated phase or blastic crisis, treatment outcome as well as overall survival. FISH technique was used to detect abnormalities of chromosome 20qin thirty philadelphia-positive CML patients and fifteen age and sex matched normal healthy individuals as a control group. Our study revealed that 14/30Ph-positive CML patients (47%) had aberrations of chromosome 20q. Nine of the thirty patients (30%) had del 20q12. Trisomy 20q was found in 5/30 patients (17%). These cytogenetic abnormalities were associated with significant increased risk of the evolution phase in CML and had a significant shorter total free survival and overall survival as well as a highly significant higher incidence of unfavorable treatment outcome in all phases. In conclusion, these genomic aberrations of chromosome 20q can play an important role in the pathophysiology, development, clinical presentation, laboratory data, disease progression and treatment outcome as well as overall survival in Ph-positive CML patients

Issued also as CD