Martiat P, Ifrah N, Rassool F, Morgan G, Giles F, Gow J, Goldman J M
MRC/LRF Leukaemia Unit, Hammersmith Hospital, London, U.K.
Leukemia. 1989 Aug;3(8):563-5.
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.
采用Southern印迹技术对7例费城（Ph）染色体阳性的原发性血小板增多症（ET）患者进行主要断裂点簇集区（M-bcr）重排检测，并对其中6例采用聚合酶链反应（PCR）检测杂交bcr-abl mRNA。分子研究显示所有病例均存在M-bcr重排；1例有b2a2 mRNA连接的证据，5例有b3a2连接的证据。这些发现与Ph阳性慢性髓性白血病的预期结果一致。这些特征可能解释了与细胞遗传学正常病例相比，Ph阳性ET预后较差的原因。相反，临床表现的差异可能归因于其他基因改变。
