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Abstract
Chronic myeloid leukemia (CML) is characterized by the formation of the BCR-ABL fusion gene, which is a consequence of a reciprocal translocation between chromosomes 9 and 22 [t (9;22)] forming the Philadelphia (Ph) chromosome.
The diagnosis of CML is made based on the characteristic granulocytosis, white cell differential count, increased absolute basophil count, and splenomegaly coupled with the presence of the Pheladelphia chromosome or its variant or a BCR rearrangement on chromosome 22.
Deletions of the der(9) were first identified in a minority of patients with CML by Southern blot analysis. Development of fluorescent in situ hybridization (FISH) probes revealed that the deletions were larger than had been previously suspected. Also detection of deletions has been performed using real-time polymerase chain reaction or multiplex amplifiable probe hybridization.
The aim of our study is to identify the incidence of der (9) deletions in CML patients and their correlation with laboratory and clinical data.
Our study was conducted on 25 BCR-ABL positive CML patients, 15 in the chronic phase and 10 in the blastic phase, using FISH probe. We found that 9q34 deletion were present in (36%) of all patients distributed as 33.3% of the CML patient in the chronic phase had 9q34 deletion, while 40% of the CML patients in the blastic phase had 9q34 deletion.
Some studies raised the possibility that deletion was a relatively late event and reflected karyotypic instability associated with disease progression. However, other studies have subsequently demonstrated that deletions occur at the time of the Ph translocation.
Our study showed that there was significant difference between the deleted versus non deleted group regarding to hemoglobin level (P=0.044), while there was no significant difference between the deleted versus non deleted group regarding to the percentage of the BCR-ABL fusion gene, the total WBC count at presentation, blast count, platelets count and spleen size at time of diagnosis.
There are 2 prognostic scoring systems currently in use for patients with CML. The Sokal and Hasford/European scores are mathematical calculations derived from clinical and laboratory parameters measured at diagnosis.
Our study results of the Hasford score done on the studied group showed that 20% had high score among them 40% had 9q34 deletion, and ,60% had intermediate score among them 33.3% had 9q34 deletion and 20% had low score among them 40% had 9q34 deletion. While results of the Sokal score in the studied group showed that 32% had high score among them 37.5%% had 9q34 deletion, and 60% had intermediate score among them 33.3%had 9q34 deletion and 8% had low score among them 50% had 9q34 deletion .