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慢性髓性白血病加速期的等臂双费城染色体

Isodicentric Philadelphia chromosome in accelerated phase of chronic myeloid leukemia.

作者信息

Pernice F, Squadrito G, Saitta A, Mazza G, Musolino C

机构信息

Dipartimento di Medicina Interna e Terapia Medica, Università degli Studi di Messina, Italy.

出版信息

Cancer Genet Cytogenet. 1993 Apr;66(2):113-6. doi: 10.1016/0165-4608(93)90238-h.

Abstract

We describe a case of chronic myeloid leukemia (CML) associated with the finding of an isodicentric Philadelphia chromosome [idic(Ph)] during the accelerated phase of the disease. Chromosome study was carried out on bone marrow aspirate cells, obtained and cultured 5 months after the clinical diagnosis. The presence of an isodicentric Philadelphia chromosome was found in 90% of the analyzed metaphases; among the remaining observed metaphases, 6% showed two idic(Ph) chromosomes, 2% a t(9;22), and 2% a normal karyotype. The patient died 7 months after the clinical diagnosis, and 2 months after our chromosome study. The observation of idic(Ph) during CML has seldom been reported and the few cases studied have been inconsistently correlated with the course of the disease. In the present case, the finding of an idic(Ph) and the short patient survival from the time of clinical diagnosis may suggest the observed chromosome aberration as a factor associated with a poor prognosis.

摘要

我们描述了一例慢性髓性白血病(CML),该病例在疾病加速期发现了一条等臂双着丝粒费城染色体[idic(Ph)]。在临床诊断5个月后获取并培养骨髓穿刺细胞进行染色体研究。在90%的分析中期相中发现了等臂双着丝粒费城染色体;在其余观察到的中期相中,6%显示两条idic(Ph)染色体,2%显示t(9;22),2%显示正常核型。患者在临床诊断7个月后死亡,在我们进行染色体研究2个月后死亡。CML期间idic(Ph)的观察很少被报道,少数研究的病例与疾病进程的相关性并不一致。在本病例中,idic(Ph)的发现以及患者自临床诊断后存活时间较短可能提示观察到的染色体畸变是一个与预后不良相关的因素。

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