title: Molecular analysis of Philadelphia positive essential thrombocythemia.
abstract: 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.
authors.affiliation: MRC/LRF Leukaemia Unit, Hammersmith Hospital, London, U.K.
authors.forename: P
authors.initials: P
authors.lastname: Martiat
authors.forename: N
authors.initials: N
authors.lastname: Ifrah
authors.forename: F
authors.initials: F
authors.lastname: Rassool
authors.forename: G
authors.initials: G
authors.lastname: Morgan
authors.forename: F
authors.initials: F
authors.lastname: Giles
authors.forename: J
authors.initials: J
authors.lastname: Gow
authors.forename: J M
authors.initials: JM
authors.lastname: Goldman
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D008297:Male; D008875:Middle Aged; D010677:Philadelphia Chromosome; D013920:Thrombocythemia, Essential / Q000235:genetics*