中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2009年
2期
203-206
,共4页
吴亚芳%薛永权%白淑潇%张俊%姚利%王勇%仇惠英%沈娟%潘金兰%马勤芬
吳亞芳%薛永權%白淑瀟%張俊%姚利%王勇%仇惠英%瀋娟%潘金蘭%馬勤芬
오아방%설영권%백숙소%장준%요리%왕용%구혜영%침연%반금란%마근분
ins(8%21)%急性白血病%细胞遗传学%荧光原位杂交
ins(8%21)%急性白血病%細胞遺傳學%熒光原位雜交
ins(8%21)%급성백혈병%세포유전학%형광원위잡교
ins(8%21)%acute leukemia%cytogenetics%fluorescence in situ hybridization
目的 对1例临床诊断为慢性粒单核细胞白血病患者进行荧光原位杂交(fluorescence in situhybridization,FISH)研究.方法 将患者骨髓细胞24 h培养后按常规方法制备染色体.采用R显带技术进行染色体核型分析;采用AML1-ETO双色双融合探针、8号和21号整条染色体涂染探针、8号染色体着丝粒探针和21号染色体亚端粒探针分别进行3种FISH分析;应用逆转录聚合酶链反应(reverse-transcription polymerase chain reaction,RT-PCR)检测AML1-ETO融合转录本.结果 核型分析显示46,XX,ins(8;21)(q22;q22.1q22.3)[73/46,XX[3];FISH分析证实ins(8;21)(q22;q22.1q22.3);RT-PCR分析检出AML1-ETO融合转录本.结论 按照世界卫生组织分型标准,此例应重新诊断为急性髓系白血病,FISH和RT-PCR在证实ins(8;21)中起重要作用.
目的 對1例臨床診斷為慢性粒單覈細胞白血病患者進行熒光原位雜交(fluorescence in situhybridization,FISH)研究.方法 將患者骨髓細胞24 h培養後按常規方法製備染色體.採用R顯帶技術進行染色體覈型分析;採用AML1-ETO雙色雙融閤探針、8號和21號整條染色體塗染探針、8號染色體著絲粒探針和21號染色體亞耑粒探針分彆進行3種FISH分析;應用逆轉錄聚閤酶鏈反應(reverse-transcription polymerase chain reaction,RT-PCR)檢測AML1-ETO融閤轉錄本.結果 覈型分析顯示46,XX,ins(8;21)(q22;q22.1q22.3)[73/46,XX[3];FISH分析證實ins(8;21)(q22;q22.1q22.3);RT-PCR分析檢齣AML1-ETO融閤轉錄本.結論 按照世界衛生組織分型標準,此例應重新診斷為急性髓繫白血病,FISH和RT-PCR在證實ins(8;21)中起重要作用.
목적 대1례림상진단위만성립단핵세포백혈병환자진행형광원위잡교(fluorescence in situhybridization,FISH)연구.방법 장환자골수세포24 h배양후안상규방법제비염색체.채용R현대기술진행염색체핵형분석;채용AML1-ETO쌍색쌍융합탐침、8호화21호정조염색체도염탐침、8호염색체착사립탐침화21호염색체아단립탐침분별진행3충FISH분석;응용역전록취합매련반응(reverse-transcription polymerase chain reaction,RT-PCR)검측AML1-ETO융합전록본.결과 핵형분석현시46,XX,ins(8;21)(q22;q22.1q22.3)[73/46,XX[3];FISH분석증실ins(8;21)(q22;q22.1q22.3);RT-PCR분석검출AML1-ETO융합전록본.결론 안조세계위생조직분형표준,차례응중신진단위급성수계백혈병,FISH화RT-PCR재증실ins(8;21)중기중요작용.
Objective To report a case of acute myeloid leukemia (AML) with the insertion (8;21) (q22; q22.1q22.3). A 33-year-old Chinese woman was referred to our hospital. Hematologic data showed WBC 42.7 ~ 109/L with monocytosis (monocyte counts 7.296 X 109/L). Bone marrow aspirate was hypercellular with 4.5% monoblasts and 7.5% promonocytes. At first she was diagnosed with chronic myelomonocytic leukemia (CMML) according to the FAB criteria. Initially the patient received supportive care only, but her general condition rapidly became worse three months later. The monoblasts and promonocytes in the bone marrow rose to 20.50%. After two cycles of combined chemotherapy she obtained complete remission. Methods Chromosome specimens were prepared by short-term culture of bone marrow cells. Karyotype analysis was carried out by R-banding technique. Three fluorescence in situ hybridization (FISH) analyses were performed using AML1-ETO dual color, dual fusion probe, whole chromosome painting 8 and 21 probes, and cen-8 and Tel 21qter probes, respectively. Reverse transcription polyrnerase chain reaction(RT-PCR) assay for detecting the AML1-ETO fusion transcript was also performed. Results Conventional cytogeuetie analysis showed a karyotype of 46,XX,ins(8;21) (q22;q22.1q22.3)[7]/46,XX[3]. FISH tests confirmed the insertion. RT-PCR analysis detected the AML1-ETO fusion transcript. Conclusion We consider that this patient should be rediagnosed as acute myeloid leukemia according to the criteria proposed by World Health Organization (WHO) and that FISH and RT-PCR play an important role in verification of the ins(8;21).
