Updating Cytogenetic Studies in Leukaemias.

1Mervat M Mohamed, 1Amal M Abd EL Moneim, 1Azza M Assal, 2Nagwa Abd EL Megeed and 2Amal Mohamad.

1Clinical pathology department and 2Human Genetics Department, Faculty of Medicine, Zagazig University, Egypt.

Chromosomal studies have proved to be essential for accurate diagnosis, prognosis and therapeutic assessment of a number of haematologic malignancies. The present work was planned to disclose the cytogenetic abnormalities occurring in different malignant blood diseases among Egyptian patients and its relation to FAB classification and its importance in prognosis. It included 17 cases with acute lymphoblastic leukemia (ALL), in whom a case of hyperdiploidy (51 chromosomes), and another case of hypodiploidy (44 chromosomes) were detected. Structural chromosomal abnormalities were present in 3 cases. They were in the form of deletion of 7p in one case, duplication of 1p 13 associated with 47+ 21+ fragment and breaks in chromosome 2 and 4q in the 2nd case and deletion of 4q in the 3rd case. In addition, eight cases with acute nonlymphoblastic leukaemia (ANLL) were analyzed, in whom 75% showed chromosomal abnormalities in the form of trisomy 8, monosomy 7 associated with monosomy 19. Translocation (11/17) associated with one metaphase 46´y 11p+ fragment and 2 metaphases 47´y 12q+ and marker chromosome. Translocation (8, 21) in a case in which normal karyotype was detected after treatment. Deletion of chromosomes ´ and 9p+ were present in one case. In ANLL, a better response to therapy was observed in cases showing normal karyotype as well as in one case with t(8, 21) as a single anomaly. Cytogenetic analysis of the chronic myeloid anemiae (CML) cases showed the presence of Philadelphia chromosome t (9,22) in 3 cases. Four cases with CML in blastic crisis, one of which was in lymphoblastic transformation were studied. An extra Ph` chromosome was detected in one case of the myeloid crisis, while the other 3 cases showed Ph` chromosome without other abnormalities.