中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2008年
6期
712-714
,共3页
白淑潇%薛永权%吴亚芳%潘金兰%张俊%沈娟%王勇%仇惠英
白淑瀟%薛永權%吳亞芳%潘金蘭%張俊%瀋娟%王勇%仇惠英
백숙소%설영권%오아방%반금란%장준%침연%왕용%구혜영
急性早幼粒细胞白血病%荧光原位杂交%插入易位
急性早幼粒細胞白血病%熒光原位雜交%插入易位
급성조유립세포백혈병%형광원위잡교%삽입역위
acute promyelocytic leukemia%fluorescence in situ hybridization%insertion trauslocation
目的 对1例伴有ins(15;17),t(2;17;20),+8复杂异常的急性早幼粒细胞白血病(acute promyelocytie leukemia,APE)病例进行细胞和分子遗传学研究.方法 按常规制备染色体,以R显带技术进行核型分析,并先后作多色荧光原位杂交(multiplex fluoresence in situ hybridization,M-FISH)、染色体涂染和PML-RARa双色FISH检测.结果 R显带核型分析为47,XY,2q-,+8,17q+,20p+;M-FISH检测为:47,XY,t(2;17;20)(q24;q21;p13),+8;染色体涂染证实了2qZ4以下片段易位到17q21上和17q21以下片段易位到20p13上;双色FISH示17号染色体上RARa(retinoic acid receptora,RARe)基因部分片段插入到15号染色体形成PNL-RARa融合基因,即ins(15;17)(q22;q21.1q21.3).结论 FISH技术是明确隐匿/插入易位的可靠手段,凡形态学拟诊为APL而常规核型分析未发现t(15;17)者均应进行FISH检测.
目的 對1例伴有ins(15;17),t(2;17;20),+8複雜異常的急性早幼粒細胞白血病(acute promyelocytie leukemia,APE)病例進行細胞和分子遺傳學研究.方法 按常規製備染色體,以R顯帶技術進行覈型分析,併先後作多色熒光原位雜交(multiplex fluoresence in situ hybridization,M-FISH)、染色體塗染和PML-RARa雙色FISH檢測.結果 R顯帶覈型分析為47,XY,2q-,+8,17q+,20p+;M-FISH檢測為:47,XY,t(2;17;20)(q24;q21;p13),+8;染色體塗染證實瞭2qZ4以下片段易位到17q21上和17q21以下片段易位到20p13上;雙色FISH示17號染色體上RARa(retinoic acid receptora,RARe)基因部分片段插入到15號染色體形成PNL-RARa融閤基因,即ins(15;17)(q22;q21.1q21.3).結論 FISH技術是明確隱匿/插入易位的可靠手段,凡形態學擬診為APL而常規覈型分析未髮現t(15;17)者均應進行FISH檢測.
목적 대1례반유ins(15;17),t(2;17;20),+8복잡이상적급성조유립세포백혈병(acute promyelocytie leukemia,APE)병례진행세포화분자유전학연구.방법 안상규제비염색체,이R현대기술진행핵형분석,병선후작다색형광원위잡교(multiplex fluoresence in situ hybridization,M-FISH)、염색체도염화PML-RARa쌍색FISH검측.결과 R현대핵형분석위47,XY,2q-,+8,17q+,20p+;M-FISH검측위:47,XY,t(2;17;20)(q24;q21;p13),+8;염색체도염증실료2qZ4이하편단역위도17q21상화17q21이하편단역위도20p13상;쌍색FISH시17호염색체상RARa(retinoic acid receptora,RARe)기인부분편단삽입도15호염색체형성PNL-RARa융합기인,즉ins(15;17)(q22;q21.1q21.3).결론 FISH기술시명학은닉/삽입역위적가고수단,범형태학의진위APL이상규핵형분석미발현t(15;17)자균응진행FISH검측.
Objective To report a rare complex karyotypic abnormalities including ins (15;17),t (2;17;20)and trisomy 8 in a patient with acute promyelocytic leukemia (APE).Methods Chromosomes were prepared after 24 h culture of bone marrow cells.R-banding technique was used to analyze the karyotype.Multiplex fluorescence in situ hybridization (M-FISH),chromosome painting using whole chromosome paint (WCP) 2,15,17 and 20 and interphaseFISH (I-FISH) using PML-RARa dual-colour dual-fusion translocation probe were performed to ascertain the essence and origin of the abnormal chromosomes detected by conventional karyotypic analysis.Results Karyotypic analysis revealed a karyotype of 47,XY,2q-,+ 8,17q +,20p+.M-FISH analysis showed a karyotype of 47,XY,t(2;17;20) (q24;q21;p13),+ 8,which was confirmed by chromosome painting.PML-RARa fusion gene which lied in the derivative chromosome 15 was detected by I-FISH suggesting a cryptic insertion (15;17)(q22;q21.1q21.3).Conclusion FISH is a reliable method for characterization of cryptic ins (15;17) and other complex translocations.It should be used in all suspected APL patients lacking t(15;17) by conventional karyotypic analysis.
