CAJ | 학술논문

目的探讨伴有嗜酸粒细胞增多的血液病患者的临床和分子、细胞遗传学特征.方法对44例伴有嗜酸粒细胞增多血液病患者的骨髓标本,经直接法和24 h短期培养后按常规方法制备染色体,采用R显带技术进行细胞遗传学分析;分别应用PDGFRα、PDGFRβ、FGFR1基因探针,进行荧光原位杂交(FISH)检测.结果 44例患者骨髓细胞经常规染色体核型分析,异常核型检出率为13.64%(44例中6例),而应用FISH技术分析,异常克隆检出率为29.55%(44例中13例),其中7例(15.91%)伴有FIP1L1-PDGFRα(简称F/P)融合基因,3例(6.82%)PDGFRα基因重排,2例(4.55%)PDGFRβ基因异常,1例(2.27%)FGFR1基因重排.将患者分为PDGFRα、PDGFRβ或FGFR1基因重排阳性(13例)与阴性(31例)组,阳性组患者的皮肤、心血管、脾脏、肺脏等器官受累程度以及WBC、PLT、HGB等血液学指标与阴性组患者无明显差异;与阴性组比较,阳性组患者胃肠道症状表现较为突出,且绝大多数患者外周血白细胞分类可见嗜酸粒细胞重度增高(绝对值＞5×109/L)以及骨髓中出现幼稚嗜酸粒细胞(P值均＜0.05).结论伴有嗜酸粒细胞增多的血液病患者具有独特的临床和血液学特征.染色体核型分析与FISH方法结合具有较高的异常克隆(特别是PDGFRα基因异常)检出率,有助于鉴别疾病的良、恶性本质,判断预后及选择合理的治疗方案.
목적 탐토반유기산립세포증다적혈액병환자적림상화분자、세포유전학특정.방법 대44례반유기산립세포증다혈액병환자적골수표본,경직접법화24 h단기배양후안상규방법제비염색체,채용R현대기술진행세포유전학분석;분별응용PDGFRα、PDGFRβ、FGFR1기인탐침,진행형광원위잡교(FISH)검측.결과 44례환자골수세포경상규염색체핵형분석,이상핵형검출솔위13.64%(44례중6례),이응용FISH기술분석,이상극륭검출솔위29.55%(44례중13례),기중7례(15.91%)반유FIP1L1-PDGFRα(간칭F/P)융합기인,3례(6.82%)PDGFRα기인중배,2례(4.55%)PDGFRβ기인이상,1례(2.27%)FGFR1기인중배.장환자분위PDGFRα、PDGFRβ혹FGFR1기인중배양성(13례)여음성(31례)조,양성조환자적피부、심혈관、비장、폐장등기관수루정도이급WBC、PLT、HGB등혈액학지표여음성조환자무명현차이;여음성조비교,양성조환자위장도증상표현교위돌출,차절대다수환자외주혈백세포분류가견기산립세포중도증고(절대치＞5×109/L)이급골수중출현유치기산립세포(P치균＜0.05).결론 반유기산립세포증다적혈액병환자구유독특적림상화혈액학특정.염색체핵형분석여FISH방법결합구유교고적이상극륭(특별시PDGFRα기인이상)검출솔,유조우감별질병적량、악성본질,판단예후급선택합리적치료방안.
Objective To analyze the clinical and laboratory characteristics of hematological diseases associated with eosinophilia. Methods Karyotype analysis was performed by direct method and/or short-time culture of bone marrow cells for R-banding. Fluorescence in situ hybridization ( FISH ) was performed using PDGFRα, PDGFRβ and FGFR1 break-apart probes. Results The clinical and hematological findings of 44 patients were diagnosed as hematological diseases associated with eosinophilia. Abnormal karyotypes were detected in 6 cases ( 13.64% ) with karyotyping. The efficiency of the detection of abnormal clone was markedly increased to 29. 55% ( 13/44 ) with FISH techniques, including 7 cases with FIP1 L1-PDGFRα ( F/P,15.91% ), 3(6. 82% ) PDGFRα rearrangement, 2 (4. 55% ) aberrant PDGFRβ gene and 1 (2. 27% )FGFR1 rearrangement. Patients being PDGFRα, PDGFRβ or FGFR1 positive ( 13 cases) or negative (31 cases) showed predominant difference in clinical and laboratory features. The incidence of gut involvement, the absolute count of eosinophils in peripheral blood and the percentage of immature eosinophils in bone marrow were significantly increased in positive patients (P ＜ 0.05 ). Conclusions The hematological diseases associated with eosinophilia are characterized by unique clinical and laboratory features. Karyotyping should be a routine approach to detect the abnormal clone in these diseases. Screening for PDGFRα, PDGFRβ and FGFR1 gene with FISH can provide more genetic information.