CAJ | 학술논문

目的探讨4例合并继发性der(9)t(9;22)(q34;q11)inv(9)(p22q34)异常的Ph阳性白血病的临床及分子遗传学特征.方法应用骨髓细胞直接法或短期培养法制备染色体,经R显带进行核型分析.应用BCR/ABL双色双融合探针和9号染色体短臂及长臂涂染探针分别对4例伴有inv(9)(p22q34)的Ph阳性患者标本进行荧光原位杂交(fluorescence in situ hybridization,FISH)和染色体涂染分析.用逆转录PCR检测BCR/ABL融合基因转录本.结果 1例急性髓细胞白血病患者核型中有3种克隆,分别为正常细胞、t(9;22)(q34；q11)异常细胞、同时合并der(9)t(9;22)衍生克隆和Ph以及其它异常,即t(8;12)(q12;p11),der(9) t(9；22)inv(9) (p22q34),der(22)t(9；22)细胞.其余3例慢性粒细胞白血病患者均同时合并Ph和der(9)t(9;22)(q34；q11)inv(9)(p22q34).FISH结果显示,3例有1红1绿两个融合信号、2红2绿1个融合信号、且在中期分裂相中发现1红1绿荧光信号分别位于9号染色体的两端；另1例67.5％的细胞有2红1绿1融合信号,有1绿色信号的缺失即表明BCR基因的缺失.染色体涂抹检测发现4例患者均有9号染色体的倒位.逆转录PCR检测均为b3a2转录本.该继发异常既可发生于Ph阳性CML慢性期或急变期,也可发生于原发性Ph阳性AML.该异常核型可能与预后不良相关.结论合并继发性der(9)t(9;22)(q34；q11)inv(9)(p22q34)异常的Ph阳性白血病是一种少见但可再现的Ph继发性异常,具有独特的临床和分子遗传学特点.
목적 탐토4례합병계발성der(9)t(9;22)(q34;q11)inv(9)(p22q34)이상적Ph양성백혈병적림상급분자유전학특정.방법 응용골수세포직접법혹단기배양법제비염색체,경R현대진행핵형분석.응용BCR/ABL쌍색쌍융합탐침화9호염색체단비급장비도염탐침분별대4례반유inv(9)(p22q34)적Ph양성환자표본진행형광원위잡교(fluorescence in situ hybridization,FISH)화염색체도염분석.용역전록PCR검측BCR/ABL융합기인전록본.결과 1례급성수세포백혈병환자핵형중유3충극륭,분별위정상세포、t(9;22)(q34；q11)이상세포、동시합병der(9)t(9;22)연생극륭화Ph이급기타이상,즉t(8;12)(q12;p11),der(9) t(9；22)inv(9) (p22q34),der(22)t(9；22)세포.기여3례만성립세포백혈병환자균동시합병Ph화der(9)t(9;22)(q34；q11)inv(9)(p22q34).FISH결과현시,3례유1홍1록량개융합신호、2홍2록1개융합신호、차재중기분렬상중발현1홍1록형광신호분별위우9호염색체적량단；령1례67.5％적세포유2홍1록1융합신호,유1록색신호적결실즉표명BCR기인적결실.염색체도말검측발현4례환자균유9호염색체적도위.역전록PCR검측균위b3a2전록본.해계발이상기가발생우Ph양성CML만성기혹급변기,야가발생우원발성Ph양성AML.해이상핵형가능여예후불량상관.결론 합병계발성der(9)t(9;22)(q34；q11)inv(9)(p22q34)이상적Ph양성백혈병시일충소견단가재현적Ph계발성이상,구유독특적림상화분자유전학특점.
Objective To investigate clinical and molecule genetics features of four Ph-positive leukemia patients characterized by pericentric inv(9) (p22q34) with the der(9) t(9 ; 22) (q34 ; q11).Methods Cytogenetic analysis was carried out on bone marrow directly or after short-period culture.R banding was used for karyotype analysis.BCR/ABL fusion gene was detected with interphase fluorescence in situ hybridization (FISH),and chromosome painting was carried out using specific probes.RT-PCR was used to detect BCR/ABL chimeric transcripts.Results One patient with acute myeloid leukemia (AML) presented three clones,which included one with a normal karyotype,one with t(9;22)(q34;q11),and one with inv (9)(p22q34) involving the der(9)t(9;22) and additional t(8;12)(q12;p11).The inv(9)(p22q34) has always co-occurred with der (9) t (9 ; 22) (q34 ; q11) accompanied by der (22) t (9 ; 22) (q34 ; q11) in all metaphases from the three patients with chronic myeloid leukemia (CML).B3a2 transcript was detected in all patients by RT-PCR.Inv(9)(p22q34) was found in both CML and AML,and was associated with poor prognosis.Conclusion Inv(9) (p22q34) is a novel,rare,but recurrent secondary chromosomal abnormality for Ph-positive leukemia.Leukemia with der (9) t (9 ; 22) and inv (9) (p22q34) has unique clinical and laboratory characteristics.