伴有PDGFRβ基因异常的骨髓增生异常/增殖性肿瘤综合征的临床和实验研究  

Clinical and laboratory study of myleodysplastic syndrome （MDS）/myeloproliferative neoplasm （MPN） with PDGFRβ abnormalities

作　　者：龚胜蓝[1] 邱慧颖[1] 宋献民[1] 邵宇[1] 王健民[1] 

机构地区：[1]第二军医大学附属长海医院血液科,上海200433

出　　处：《中华血液学杂志》2010年第8期540-544,共5页Chinese Journal of Hematology

基　　金：卫生部科研基金（WKJ2007-3-801）;上海市科委重点基金（08JC1406500）

摘　　要：目的 探讨伴有血小板衍生生长因子β（PDGFRβ）基因异常的骨髓增生异常/增殖性肿瘤（MDS/MPN）综合征的临床和实验室特征.方法 按常规方法制备骨髓细胞染色体标本,用RHG显带技术进行核型分析;分别应用PDGFRβ、PDGFRα、FGFR1分离探针,5号、12号全染色体涂抹探针,进行双色荧光原位杂交（D-FISH）和染色体涂抹分析;定量PCR方法检测JAK2 V617F基因.结果 27例患者临床和血液学改变符合MDS/MPN综合征诊断,用D-FISH技术从中筛查出4例患者伴有PDGFRβ基因的重排,其中2例用涂染技术证实为t（5;12）.4例PDGFRβ阳性的MDS/MPN患者均未检测到PDGFRα、FGFR1、JAK2 V617F基因异常.结论 PDGFRβ重排可见于部分MDS/MPN患者.这类疾病应被归入＂伴有PDGFRβ异常的髓系肿瘤＂的范畴,嗜酸粒细胞增高并不是它们的共同临床表现,用FISH技术筛查PDGFRβ基因是一种简便、可靠的检测手段,对于提高诊断水平及指导临床用药具有重要意义.Objective To explore the clinical and laboratory characteristics of myleodysplastic syndrome （MDS） /myeloproliferative neoplasm （MPN） with PDGFRβ abnormalities. Methods Chromosome specimens were prepared directly and/or short-time euiture of bone marrow ceils. Karyotyping was performed with R-binding technique. Fluorescenee in situ hybridization （FISH） was performed using PDGFRβ,PDGFRα, FGFR1 break-apart probes and whole chromosome 5 and 12 painting probes, respectively. The expression of JAK2 V617F was measured with quantitative PCR. Results The clinieal and hematological findings of 27 patients were compatible with diagnosis of MDS/MPN. PDGFRβ rearrangement was detected in 4 patients with D-FISH, and 2 of which were confirmed as t（5;12） by chromosome painting. PDGFRα、FGFR1 and JAK2 V617F mutation were not detected in these 4 PDGFRβ positive MDS/MPN patients with. Conclusions PDGFRβ gene rearrangement may be detected in some MDS/MPN patients. FISH is a convenient and reliable approach to detect PDGFRβ gene.

关 键 词：PDGFRβ基因 基因重排 原位杂交 荧光 MDS/MPN综合征 

分 类 号：R551.3[医药卫生—血液循环系统疾病] R733.3[医药卫生—内科学]