白血病·淋巴瘤
白血病·淋巴瘤
백혈병·림파류
JOURNAL OF LEUKEMIA & LYMPHOMA
2013年
4期
230-232
,共3页
骨髓增生异常综合征%原位杂交,荧光%染色体
骨髓增生異常綜閤徵%原位雜交,熒光%染色體
골수증생이상종합정%원위잡교,형광%염색체
Myelodysplastic syndrome%In situ hybridization,fluorescence%Chromosome
目的 探讨应用组合探针行荧光原位杂交技术(FISH)检测骨髓增生异常综合征(MDS)的常见染色体异常,并比较常规细胞遗传学分析(CCA)与FISH在MDS检测中的作用.方法 对51例MDS患者和10例健康对照者的骨髓细胞进行CCA,并用组合探针行FISH检测,比较CCA和FISH检测5号、7号、8号、20号、Y染色体异常的情况.结果 行CCA发现,43.14％(22/51)有染色体异常,其中涉及上述5条染色体异常的有33.33％(17/51) [-5/5q-占11.76％(6/51),-7/7q-占11.76％(6/51),+8占11.76％(6/51),20q-占9.80％(5/51),-Y占3.92％(2/51)；其中部分异常合并存在]；其他染色体异常9.80％(5/51).CCA异常中,数目异常4例,结构异常8例,数目并结构异常1例,复杂异常9例.FISH组合探针检出阳性率为43.14％(22/51),其中-5/5q-占11.76％(6/51),-7/7q-占15.69％(8/51),+8占13.73％(7/51),20q-占13.73％(7/51),-y占3.92％(2/51).结论 CCA与FISH结合能提高MDS染色体异常的检出率,FISH能发现和纠正CCA漏检的异常.
目的 探討應用組閤探針行熒光原位雜交技術(FISH)檢測骨髓增生異常綜閤徵(MDS)的常見染色體異常,併比較常規細胞遺傳學分析(CCA)與FISH在MDS檢測中的作用.方法 對51例MDS患者和10例健康對照者的骨髓細胞進行CCA,併用組閤探針行FISH檢測,比較CCA和FISH檢測5號、7號、8號、20號、Y染色體異常的情況.結果 行CCA髮現,43.14％(22/51)有染色體異常,其中涉及上述5條染色體異常的有33.33％(17/51) [-5/5q-佔11.76％(6/51),-7/7q-佔11.76％(6/51),+8佔11.76％(6/51),20q-佔9.80％(5/51),-Y佔3.92％(2/51)；其中部分異常閤併存在]；其他染色體異常9.80％(5/51).CCA異常中,數目異常4例,結構異常8例,數目併結構異常1例,複雜異常9例.FISH組閤探針檢齣暘性率為43.14％(22/51),其中-5/5q-佔11.76％(6/51),-7/7q-佔15.69％(8/51),+8佔13.73％(7/51),20q-佔13.73％(7/51),-y佔3.92％(2/51).結論 CCA與FISH結閤能提高MDS染色體異常的檢齣率,FISH能髮現和糾正CCA漏檢的異常.
목적 탐토응용조합탐침행형광원위잡교기술(FISH)검측골수증생이상종합정(MDS)적상견염색체이상,병비교상규세포유전학분석(CCA)여FISH재MDS검측중적작용.방법 대51례MDS환자화10례건강대조자적골수세포진행CCA,병용조합탐침행FISH검측,비교CCA화FISH검측5호、7호、8호、20호、Y염색체이상적정황.결과 행CCA발현,43.14％(22/51)유염색체이상,기중섭급상술5조염색체이상적유33.33％(17/51) [-5/5q-점11.76％(6/51),-7/7q-점11.76％(6/51),+8점11.76％(6/51),20q-점9.80％(5/51),-Y점3.92％(2/51)；기중부분이상합병존재]；기타염색체이상9.80％(5/51).CCA이상중,수목이상4례,결구이상8례,수목병결구이상1례,복잡이상9례.FISH조합탐침검출양성솔위43.14％(22/51),기중-5/5q-점11.76％(6/51),-7/7q-점15.69％(8/51),+8점13.73％(7/51),20q-점13.73％(7/51),-y점3.92％(2/51).결론 CCA여FISH결합능제고MDS염색체이상적검출솔,FISH능발현화규정CCA루검적이상.
Objective To examine the use of combination probe fluorescence in situ hybridization (FISH) in detecting common chromosome abnormalities in myelodysplastic syndrome (MDS),and compare conventional cytogenetic analysis (CCA) with FISH in the role of MDS detection.Methods The chromosome abnormalities of No.5,No.7,No.8,No.20 and Y chromosome in 51 cases of MDS and 10 cases of normal controls were compared by CCA and FISH.Results 51 cases of MDS patients were found by CCA that 43.14 ％ (22/51) had chromosome anomaly,showing 33.33 ％ (17/51) abnormalities in above five chromosomes [-5/5q-abnormal 11.76 ％ (6/51),-7/7q-abnormal 11.76 ％ (6/51),+8 anomaly 11.76 ％ (6/51),and q-abnormal 9.80 ％ (5/51),-Y anomaly 3.92 ％ (2/51),respectively].Abnormalities in other chromosomes were 9.80 ％ (5/51).4 cases had abnormal numbers,8 cases had abnormal structures,1 case had abnormalities in both numbers and structures,and 9 cases were diagnosed with complex anomaly.FISH with probe combination detected 22 positive cases (43.1％),among which were-5/5q-abnormal 11.76 ％(6/51),-7/7q-abnormal 15.69 ％ (8/51),+8 anomaly 13.73 ％ (7/51),q-abnormal 13.73 ％ (7/51),and-Y anomaly 3.92 ％ (2/51),respectively.Conclusion Combination of CCA and FISH can improve the detection rate of MDS chromosome anomaly.FISH can identify and correct the false negatives by CCA.
