中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2012年
2期
137-140
,共4页
t(14%14)(q11%q32)%B细胞急性淋巴细胞白血病%荧光原位杂交%IGH基因%CEBPE基因
t(14%14)(q11%q32)%B細胞急性淋巴細胞白血病%熒光原位雜交%IGH基因%CEBPE基因
t(14%14)(q11%q32)%B세포급성림파세포백혈병%형광원위잡교%IGH기인%CEBPE기인
t(14%14)(q11%q32)%B-lineage acute lymphoblastic leukemia%Fluorescence in situ hybridization%IGH gene%CEBPE gene
目的 报告1例伴t(14;14)(q11;q32)易位的罕见B细胞急性淋巴细胞白血病(B-lineage acute lymphoblastie leukemia,B-ALL)病例,阐明其临床和分子细胞遗传学特征.方法 分析1例伴t(14；14)(q11；q32)易位B-ALL患者的临床资料；将患者骨髓细胞24h培养后按常规方法制备染色体标本,采用R显带技术进行核型分析；分别应用IGH双色断裂点分离探针、CEBPE双色断裂点分离探针、4号全染色体涂染探针和ALL组合探针进行荧光原位杂交(fluorescence in situ hybridization,FISH)分析.结果 常规细胞遗传学分析显示患者核型为47,XX,+4,t(14;14)(q11；q32)[20],FISH分析进一步证实了这种核型异常.IGH双色断裂点分离探针FISH分析表明t(14；14)(q11;q32)易位累及IGH基因,CEBPE双色断裂点分离探针FISH分析提示t(14；14)(q11；q32)易位中IGH的伙伴基因为CEBPE基因.结论 在B-ALL中t(14;4)(q11;q32)易位同时累及IGH和CEBPE基因为少见的再现性遗传学异常,该异常可定义B-ALL中一种新的亚型.伴有t(14；14)(q11；q32) IGH/CEBPE易位的B-ALL患者可能预后较好.
目的 報告1例伴t(14;14)(q11;q32)易位的罕見B細胞急性淋巴細胞白血病(B-lineage acute lymphoblastie leukemia,B-ALL)病例,闡明其臨床和分子細胞遺傳學特徵.方法 分析1例伴t(14；14)(q11；q32)易位B-ALL患者的臨床資料；將患者骨髓細胞24h培養後按常規方法製備染色體標本,採用R顯帶技術進行覈型分析；分彆應用IGH雙色斷裂點分離探針、CEBPE雙色斷裂點分離探針、4號全染色體塗染探針和ALL組閤探針進行熒光原位雜交(fluorescence in situ hybridization,FISH)分析.結果 常規細胞遺傳學分析顯示患者覈型為47,XX,+4,t(14;14)(q11；q32)[20],FISH分析進一步證實瞭這種覈型異常.IGH雙色斷裂點分離探針FISH分析錶明t(14；14)(q11;q32)易位纍及IGH基因,CEBPE雙色斷裂點分離探針FISH分析提示t(14；14)(q11；q32)易位中IGH的夥伴基因為CEBPE基因.結論 在B-ALL中t(14;4)(q11;q32)易位同時纍及IGH和CEBPE基因為少見的再現性遺傳學異常,該異常可定義B-ALL中一種新的亞型.伴有t(14；14)(q11；q32) IGH/CEBPE易位的B-ALL患者可能預後較好.
목적 보고1례반t(14;14)(q11;q32)역위적한견B세포급성림파세포백혈병(B-lineage acute lymphoblastie leukemia,B-ALL)병례,천명기림상화분자세포유전학특정.방법 분석1례반t(14；14)(q11；q32)역위B-ALL환자적림상자료；장환자골수세포24h배양후안상규방법제비염색체표본,채용R현대기술진행핵형분석；분별응용IGH쌍색단렬점분리탐침、CEBPE쌍색단렬점분리탐침、4호전염색체도염탐침화ALL조합탐침진행형광원위잡교(fluorescence in situ hybridization,FISH)분석.결과 상규세포유전학분석현시환자핵형위47,XX,+4,t(14;14)(q11；q32)[20],FISH분석진일보증실료저충핵형이상.IGH쌍색단렬점분리탐침FISH분석표명t(14；14)(q11;q32)역위루급IGH기인,CEBPE쌍색단렬점분리탐침FISH분석제시t(14；14)(q11；q32)역위중IGH적화반기인위CEBPE기인.결론 재B-ALL중t(14;4)(q11;q32)역위동시루급IGH화CEBPE기인위소견적재현성유전학이상,해이상가정의B-ALL중일충신적아형.반유t(14；14)(q11；q32) IGH/CEBPE역위적B-ALL환자가능예후교호.
Objective To report on a rare case of B-lineage acute lymphoblastic leukemia (B-ALL)with t(14;14)(q11 ;q32) and clarify its clinical and molecular cytogenetic features.Methods Clinical data of a B-ALL patient with t (14; 14)(q11; q32) were analyzed. After 24 hour of unstimulated culturing,chromosome specimens of bone marrow cells were prepared with regular method,and R-banding was used for karyotype analysis.Fluorescence in situ hybridization (FISH) analysis was performed on fixed bone marrow cells using IGH dual-color break-apart probe, CEBPE dual-color break-apart probe, whole chromosome paint (WCP) probe for chromosome 4,and Chromoprobe Multiprobe-ALL System probe.Results The 39-year-old female was diagnosed with B-ALL based on morphologic and immunophenotypic analyses.Conventional cytogenetic analysis showed a karyotype of 47,XX,+ 4,t ( 14 ; 14) (q11 ; q32) [20],which was confirmed by FISH analysis. FISH using IGH dual-color break-apart probe confirmed involvement of IGH gene in t(14; 14) (q11 ; q32),and FISH using CEBPE dual-color break-apart probe indicated that CEBPE is the partner gene involved in t (14;14)(q11;q32).The patient achieved complete remission (CR) after a round of combined chemotherapy.At the time of follow-up,she had remained CR for more than 6 months.Conclusion t(14;14)(q11;q32) simultaneously involving IGH and CEBPE genes in B-ALL is a rare but recurrent genetic abnormality that may identify a new subgroup of B-ALL.In B-ALL patients,t(14 ; 14) (q11 ; q32) involving IGH/CEBPE translocation may indicate a better prognosis.
