CAJ | 학술논문

目的探讨染色体1q21异常扩增和1p12缺失与多发性骨髓瘤(MM)发展、预后及治疗效果之间的相关性.方法应用胞质轻链免疫荧光原位杂交(cIg-FISH)技术检测48例MM患者1q21扩增和1p12缺失的发生率,并分析其与疾病临床特征的相关性.结果 1q21扩增阳性率为54.2%(48例中26例),伴有1q21扩增组死亡率明显高于不伴有1q21扩增组(P＜0.05),但两组患者性别、年龄、Durie-Salman(D-S)分期、国际分期体系(ISS)分期、分组差异无统计学意义(P＞0.05).进一步比较分析出现3个扩增信号和4个及以上扩增信号的两组患者,其D-S分期和病死率差异均存在统计学意义(P＜0.05),但性别、分型、年龄、分组和ISS分期差异无统计学意义(P＞0.05).1p12缺失阳性率29.2%(48例中14例),阳性组与阴性组患者性别、年龄、D-S分期、ISS分期、分组、分型和病死率差异均无统计学意义(P＞0.05).结论 1号染色体异常是MM常见的核型异常,1q21扩增是MM预后较差的重要指标.1q21扩增信号≥4的患者预后较扩增信号为3者更差,说明随着1q21扩增信号的增加,患者预后有越来越差的趋势.
목적 탐토염색체1q21이상확증화1p12결실여다발성골수류(MM)발전、예후급치료효과지간적상관성.방법 응용포질경련면역형광원위잡교(cIg-FISH)기술검측48례MM환자1q21확증화1p12결실적발생솔,병분석기여질병림상특정적상관성.결과 1q21확증양성솔위54.2%(48례중26례),반유1q21확증조사망솔명현고우불반유1q21확증조(P＜0.05),단량조환자성별、년령、Durie-Salman(D-S)분기、국제분기체계(ISS)분기、분조차이무통계학의의(P＞0.05).진일보비교분석출현3개확증신호화4개급이상확증신호적량조환자,기D-S분기화병사솔차이균존재통계학의의(P＜0.05),단성별、분형、년령、분조화ISS분기차이무통계학의의(P＞0.05).1p12결실양성솔29.2%(48례중14례),양성조여음성조환자성별、년령、D-S분기、ISS분기、분조、분형화병사솔차이균무통계학의의(P＞0.05).결론 1호염색체이상시MM상견적핵형이상,1q21확증시MM예후교차적중요지표.1q21확증신호≥4적환자예후교확증신호위3자경차,설명수착1q21확증신호적증가,환자예후유월래월차적추세.
Objective To investigate the incidence of 1q21 amplification and 1p12 deletion, and analyze the correlation between these aberrations with disease progression, prognosis and outcome in patients with multiple myeloma(MM). Methods Cytoplasm light chain immunofluorescence with simultaneous interphase fluorescence in situ hybridization (cIg-FISH) was used to detecte the 1q21 amplification and 1p12 deletion in 48 patients with MM. Results 1q21 amplification ( ≥3 red signals) was determined in 26 of 48 (54.2%) cases. The mortality of patients with 1q21 amplification was significantly higher than that of those lacking 1q21 amplification (P ＜ 0.05 ). The sex, age, D-S stage, subgroup and ISS stage between patients with and without 1 q21 amplification had no significant difference (P ＞0.05 ). There was a significant difference in D-S stage and mortality between patients with 3 and with 4 copies of 1 q21 ( P ＜ 0.05 ). No significant difference in sex, age, subgroup, ISS stage, and isotype was found between them (P ＞0.05 ). 1 p12 deletion ( ＜2 green signals) was found in 14 of 48 (29.2%) cases. There was no significant difference in sex, age,D-S stage, ISS stage, isotype, subgroup, and mortality between patients with and without 1p12 deletion.Conclusion The frequency of chromosome 1 aberrations in multiple myeloma is high and 1 q21 amplification is a poor prognosis factor.