Jf. Lesesve et al., P190(BCR ABL) REARRANGEMENT IN MYELODYSPLASTIC SYNDROMES - 2 REPORTS AND REVIEW OF THE LITERATURE/, British Journal of Haematology, 95(2), 1996, pp. 372-375
We describe two patients with myelodysplastic syndrome (MDS) and the P
hiladelphia chromosome (Ph). The patients were 64- and 69-year-old men
who were diagnosed as having refractory anaemia with excess of blasts
. During the terminal phase, the MDS evolved to myeloblastic leukaemia
. Chromosome analysis showed normal karyotypes mixed with metaphases c
ontaining a classic Ph chromosome t(9:22)(q34:q11). Surprisingly, mole
cular studies showed breakpoint cluster region rearrangement between e
xons al and a2, compatible with a p190(bcr)/(abl) breakpoint, as obser
ved in acute lymphoblastic leukaemia. We discuss the correlation betwe
en MDS and acquisition of the Ph chromosome, and the occurrence of p19
0(bcr/abl) in MDS.