CAJ | 학술논문

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.
목적 탐토반유혈소판연생생장인자β(PDGFRβ)기인이상적골수증생이상/증식성종류(MDS/MPN)종합정적림상화실험실특정.방법 안상규방법제비골수세포염색체표본,용RHG현대기술진행핵형분석;분별응용PDGFRβ、PDGFRα、FGFR1분리탐침,5호、12호전염색체도말탐침,진행쌍색형광원위잡교(D-FISH)화염색체도말분석;정량PCR방법검측JAK2 V617F기인.결과 27례환자림상화혈액학개변부합MDS/MPN종합정진단,용D-FISH기술종중사사출4례환자반유PDGFRβ기인적중배,기중2례용도염기술증실위t(5;12).4례PDGFRβ양성적MDS/MPN환자균미검측도PDGFRα、FGFR1、JAK2 V617F기인이상.결론 PDGFRβ중배가견우부분MDS/MPN환자.저류질병응피귀입"반유PDGFRβ이상적수계종류"적범주,기산립세포증고병불시타문적공동림상표현,용FISH기술사사PDGFRβ기인시일충간편、가고적검측수단,대우제고진단수평급지도림상용약구유중요의의.
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.