【摘要】 目的研究伴9号染色体短臂(9p)异常的急性淋巴细胞白血病(ALL)的临床及分子细胞遗传学特征。方法对23例伴9p异常的ALL患者进行回顾性分析其临床特征及预后;应用荧光原位杂交(FISH)技术鉴定其累及的基因。结果9p异常ALL占同期ALL的5．26％。有免疫学资料的21例患者,4例为T系ALL;17例为B系ALL,其中早前B细胞型3例。11例以del(9p)为主要遗传学特征,其余12例9p异常包括t(9p)或del／add(9p)作为继发或伴发于其他染色体异常的复杂核型。经FISH检测发现14例患者有p16基因缺失。与核型正常组患者相比,del(9p)患者更易累及脾脏,且生存期短。结论9p异常是一个非随机的染色体改变且极易累及p16基因。伴有9p缺失的患者具有独特的临床特征与不良的预后。更多还原

【Abstract】 Objective To investigate the clinical and molecular cytogenetic characteristics of patients with the short arm abnormalities of chromosome 9 (9p) in acute lymphoblastic leukemia(ALL). Methods The clinical features and prognosis of 23 ALL patients with 9p abnormalities were retrospectively analyzed and the involved gene of 9p abnormalities were also identified by fluorescence in situ hybridization ( FISH). Results Twenty-three (5.26% ) out of 437 ALL patients had 9p abnormalities, among whom 21 cases were im-munophenotyed including 4 cases of T lineage and 17 B lineage with 3 cases of early pro-B ALL. Eleven patients carried mainly del(9p) aberration, and the others complicated karyotypes with del/add(9p). p!6 gene involvement was identified in 14 patients with 9p abnormalities by FISH. The ALL patients with 9p - had higher frequency of splenomegaly and significant shorter survival as compared to that in patients with normal karyotype. Conclusion 9p abnormality is a non-random chromosomal aberration in patients with ALL and frequently involves p16 gene. ALL patients with 9p - have unique clinical features and poor prognosis.更多还原