Molecular analysis of Philadelphia positive essential thrombocythemia.
Seven patients with Philadelphia (Ph) chromosome positive essential thrombocythemia (ET) were investigated for the presence of a rearrangement within the major breakpoint cluster region (M-bcr) using the Southern blot technique and, in six cases, for the presence of the hybrid bcr-abl mRNA using the polymerase chain reaction (PCR). The molecular studies showed rearrangement of M-bcr in all cases; there was evidence of the b2a2 mRNA junction in one case and of b3a2 junction in five cases. These findings are identical to what might have been expected in Ph-positive chronic myeloid leukemia. These features may explain the poor prognosis of Ph-positive ET in comparison with cytogenetically normal cases. Conversely, the differences in clinical presentation may be due to other genetic changes.
Martiat
P
P
MRC/LRF Leukaemia Unit, Hammersmith Hospital, London, U.K.
Ifrah
N
N
Rassool
F
F
Morgan
G
G
Giles
F
F
Gow
J
J
Goldman
J M
JM
D000328:Adult; D000368:Aged; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D008297:Male; D008875:Middle Aged; D010677:Philadelphia Chromosome; D013920:Thrombocythemia, Essential / Q000235:genetics*