Corradini P, Palumbo A P, Battaglio S, Ponzio G, Boccadoro M, Pileri A
Dipartimento di Medicina e Oncologia Sperimentale, Università di Torino, Italy.
Haematologica. 1990 Nov-Dec;75(6):573-5.
Essential thrombocythemia (ET) is a myeloproliferative disorder characterized by a platelet count higher than 1000 x 10(9)/l. Bone marrow karyotype aberrations are occasionally observed. The presence of cytogenetic and molecular markers of chronic myeloid leukemia (CML) was assessed in 25 patients with the clinical features of ET. One displayed a complex translocation (9; 15; 22) (q34.1 or q34.3; q26.1; q11), and another a Philadelphia chromosome with standard translocation (9; 22) (q34; q11). Southern blot analysis revealed a rearranged breakpoint cluster region (bcr) in each case. Both patients experienced a stormy disease course without a leukemic transformation. These data indicate that the Philadelphia chromosome rarely occurs in ET and strongly influences patient outcome.
原发性血小板增多症（ET）是一种骨髓增殖性疾病，其特征为血小板计数高于1000×10⁹/L。偶尔会观察到骨髓核型异常。对25例具有ET临床特征的患者评估了慢性髓性白血病（CML）的细胞遗传学和分子标志物。1例显示复杂易位（9；15；22）（q34.1或q34.3；q26.1；q11），另1例显示具有标准易位（9；22）（q34；q11）的费城染色体。Southern印迹分析显示每种情况下断点簇区域（bcr）均发生重排。两名患者均经历了病情多变的病程且未发生白血病转化。这些数据表明费城染色体在ET中很少出现，且对患者预后有强烈影响。
