CAJ | 학술논문

目的：探讨不同染色体核型及单核苷酸多态性（SNP）的急性髓系白血病（AML）患者、尤其是具有正常染色体核型患者预后的异同。方法应用 G-显带技术和基于 SNP 的高分辨基因芯片（SNPa）对23例 AML 患者的骨髓进行检测，明确其染色体核型及 SNP 状况；观察患者的疾病转归，并分析患者疾病转归与其染色体信息变化的关系。结果在23例 AML 患者中，G-显带技术检测出11例伴有异常染色体核型，12例为正常染色体核型。SNPa 检测出19例患者伴有基因信息异常，其中12例具有正常染色体核型的患者中有11例伴有 SNP；这11例患者中有4例基因信息异常，表现为基因杂合性缺失（LOH）。12例具有正常染色体核型的 AML 患者中，有7例初次诱导即达完全缓解，经后续治疗存活至今；另有2例经再次诱导化学治疗后达完全缓解；还有3例初次诱导未达完全缓解，再次诱导化学治疗后因出现严重感染或内脏出血而死亡。11例具有异常染色体核型的AML 患者中，有8例在初次诱导化学治疗后达完全缓解。经 SNPa 检测发现，23例 AML 患者中，5例具有 LOH 的患者有4例初次诱导不缓解可能与其合并有17或21号染色体长臂特定位点发生 SNP有关。结论SNPa 可作为染色体核型分析的补充手段，对 AML 患者，特别是具有正常染色体核型患者可提供更为准确的预后评估。
목적：탐토불동염색체핵형급단핵감산다태성（SNP）적급성수계백혈병（AML）환자、우기시구유정상염색체핵형환자예후적이동。방법응용 G-현대기술화기우 SNP 적고분변기인심편（SNPa）대23례 AML 환자적골수진행검측，명학기염색체핵형급 SNP 상황；관찰환자적질병전귀，병분석환자질병전귀여기염색체신식변화적관계。결과재23례 AML 환자중，G-현대기술검측출11례반유이상염색체핵형，12례위정상염색체핵형。SNPa 검측출19례환자반유기인신식이상，기중12례구유정상염색체핵형적환자중유11례반유 SNP；저11례환자중유4례기인신식이상，표현위기인잡합성결실（LOH）。12례구유정상염색체핵형적 AML 환자중，유7례초차유도즉체완전완해，경후속치료존활지금；령유2례경재차유도화학치료후체완전완해；환유3례초차유도미체완전완해，재차유도화학치료후인출현엄중감염혹내장출혈이사망。11례구유이상염색체핵형적AML 환자중，유8례재초차유도화학치료후체완전완해。경 SNPa 검측발현，23례 AML 환자중，5례구유 LOH 적환자유4례초차유도불완해가능여기합병유17혹21호염색체장비특정위점발생 SNP유관。결론SNPa 가작위염색체핵형분석적보충수단，대 AML 환자，특별시구유정상염색체핵형환자가제공경위준학적예후평고。
Objective To analyze G-banding karyotyping and single nucleotide polymorphism array (SNPa)method in evaluation of prognosis of acute myeloid leukemia (AML),especially for those with normal chromosome karyotype.Methods G-banding karyotyping and SNPa analysis of the bone marrow from 23 AML patients were performed to detect the chromosome karyotype and SNP status.Clinical prognosis of those patients was observed and the relationship between clinical prognosis and alterations in chromosome genetic information was evaluated.Results Among 23 AML patients detected by G-banding karyotyping,11 were accompanied with abnormal chromosome karyotype and 12 were normal.At the same time,SNPa analysis revealed that 19 patients showed abnormal genetic information and four were normal.Eleven of the twelve patients with normal chromosome karyotype were accompanied by SNP,four of whom presented with loss of heterozygosity (LOH). Among 12 patients with normal chromosome karyotype,seven gained complete remission after the first chemo-therapy induction,and still survived until now.Another two obtained complete remission following the second chemotherapy induction.Three patients failed to obtain complete remission after the first chemotherapy induc-tion and died of severe infection or hemorrhage after the second chemotherapy induction.Among 11 patients with abnormal chromosome karyotype,eight obtained complete remission after the first chemotherapy induction. SNPa indicated that four patients with LOH failed to gain complete remission,probably caused by the occur-rence of SNP in the specific sites of long arm of chromosome 17 or 21.Conclusion SNPa can serve as a com-plimentary tool in assessing the prognosis of AML,especially for those with normal chromosome karyotype.