中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2014年
4期
499-503
,共5页
买买提力·依马木%古再丽努尔·吾甫尔%王晓敏%刘虹%李燕%肖萌
買買提力·依馬木%古再麗努爾·吾甫爾%王曉敏%劉虹%李燕%肖萌
매매제력·의마목%고재려노이·오보이%왕효민%류홍%리연%초맹
慢性淋巴细胞白血病%p53基因缺失%预后
慢性淋巴細胞白血病%p53基因缺失%預後
만성림파세포백혈병%p53기인결실%예후
Chronic lymphocytic leukemia%p53 gene deletion%Prognosis
目的 探讨新疆慢性淋巴细胞白血病(chronic lymphocytic leukemia,CLL)患者临床特征及p53基因缺失的检出率及其临床意义.方法 应用荧光原位杂交(fluorescence in situ hybridization,FISH)技术对77例CLL患者进行p53基因缺失的检测,分析p53基因缺失对预后的价值及其与临床特征和部分预后参数的关系.单因素生存分析采用Kaplan-Meier法绘制生存曲线和Log-rank检验.结果 (1)77例CLL中,10例(12.9％)检测出p53缺失,而20例对照中均不存在p53缺失,差异有统计学意义(P＜0.05).其中,32例汉族CLL中4例检测出p53缺失,45例维吾尔族CLL中6例检测出p53缺失,缺失率比较差异无统计学意义(P＞0.05); p53基因缺失与患者性别、年龄、民族、外周血(除血红蛋白以外)、血清乳酸脱氢酶、β2-微球蛋白及CD38表达水平等无明显相关性(P＞0.05),而与疾病后期及ZAP-70高表达有相关性(P＜0.05).(2)20例患者接受含氟达拉滨方案治疗,其中p53基因缺失者5例,部份缓解1例,无1例达完全缓解,总缓解率为20％;p53基因无缺失者15例,部份缓解11例,完全缓解4例,总缓解率为75％,二者总缓解率比较差异有统计学意义(P＜0.05).中位随访39.0(8.0～136.0)个月,死亡11例(14.3％),其中死于CLL及其相关并发症者7例,其他原因者4例.死亡的7例患者均伴有p53基因缺失.伴有p53基因缺失组无进展生存期(18个月)明显短于无p53基因缺失者(55个月),差异有统计学意义(P＜0.05).结论 新疆10％以上CLL患者存在p53基因缺失,但维吾尔族和汉族CLL患者p53基因缺失率无差异,p53基因缺失与疾病后期及ZAP-70高表达有关,p53基因缺失者生存期较短,采用含氟达拉滨方案治疗总缓解率低于无缺失者,故应避免选择影响p53信号传导系统的药物.
目的 探討新疆慢性淋巴細胞白血病(chronic lymphocytic leukemia,CLL)患者臨床特徵及p53基因缺失的檢齣率及其臨床意義.方法 應用熒光原位雜交(fluorescence in situ hybridization,FISH)技術對77例CLL患者進行p53基因缺失的檢測,分析p53基因缺失對預後的價值及其與臨床特徵和部分預後參數的關繫.單因素生存分析採用Kaplan-Meier法繪製生存麯線和Log-rank檢驗.結果 (1)77例CLL中,10例(12.9％)檢測齣p53缺失,而20例對照中均不存在p53缺失,差異有統計學意義(P＜0.05).其中,32例漢族CLL中4例檢測齣p53缺失,45例維吾爾族CLL中6例檢測齣p53缺失,缺失率比較差異無統計學意義(P＞0.05); p53基因缺失與患者性彆、年齡、民族、外週血(除血紅蛋白以外)、血清乳痠脫氫酶、β2-微毬蛋白及CD38錶達水平等無明顯相關性(P＞0.05),而與疾病後期及ZAP-70高錶達有相關性(P＜0.05).(2)20例患者接受含氟達拉濱方案治療,其中p53基因缺失者5例,部份緩解1例,無1例達完全緩解,總緩解率為20％;p53基因無缺失者15例,部份緩解11例,完全緩解4例,總緩解率為75％,二者總緩解率比較差異有統計學意義(P＜0.05).中位隨訪39.0(8.0～136.0)箇月,死亡11例(14.3％),其中死于CLL及其相關併髮癥者7例,其他原因者4例.死亡的7例患者均伴有p53基因缺失.伴有p53基因缺失組無進展生存期(18箇月)明顯短于無p53基因缺失者(55箇月),差異有統計學意義(P＜0.05).結論 新疆10％以上CLL患者存在p53基因缺失,但維吾爾族和漢族CLL患者p53基因缺失率無差異,p53基因缺失與疾病後期及ZAP-70高錶達有關,p53基因缺失者生存期較短,採用含氟達拉濱方案治療總緩解率低于無缺失者,故應避免選擇影響p53信號傳導繫統的藥物.
목적 탐토신강만성림파세포백혈병(chronic lymphocytic leukemia,CLL)환자림상특정급p53기인결실적검출솔급기림상의의.방법 응용형광원위잡교(fluorescence in situ hybridization,FISH)기술대77례CLL환자진행p53기인결실적검측,분석p53기인결실대예후적개치급기여림상특정화부분예후삼수적관계.단인소생존분석채용Kaplan-Meier법회제생존곡선화Log-rank검험.결과 (1)77례CLL중,10례(12.9％)검측출p53결실,이20례대조중균불존재p53결실,차이유통계학의의(P＜0.05).기중,32례한족CLL중4례검측출p53결실,45례유오이족CLL중6례검측출p53결실,결실솔비교차이무통계학의의(P＞0.05); p53기인결실여환자성별、년령、민족、외주혈(제혈홍단백이외)、혈청유산탈경매、β2-미구단백급CD38표체수평등무명현상관성(P＞0.05),이여질병후기급ZAP-70고표체유상관성(P＜0.05).(2)20례환자접수함불체랍빈방안치료,기중p53기인결실자5례,부빈완해1례,무1례체완전완해,총완해솔위20％;p53기인무결실자15례,부빈완해11례,완전완해4례,총완해솔위75％,이자총완해솔비교차이유통계학의의(P＜0.05).중위수방39.0(8.0～136.0)개월,사망11례(14.3％),기중사우CLL급기상관병발증자7례,기타원인자4례.사망적7례환자균반유p53기인결실.반유p53기인결실조무진전생존기(18개월)명현단우무p53기인결실자(55개월),차이유통계학의의(P＜0.05).결론 신강10％이상CLL환자존재p53기인결실,단유오이족화한족CLL환자p53기인결실솔무차이,p53기인결실여질병후기급ZAP-70고표체유관,p53기인결실자생존기교단,채용함불체랍빈방안치료총완해솔저우무결실자,고응피면선택영향p53신호전도계통적약물.
Objective To investigate the presence of p53 gene deletion in Xinjiang patients with chronic lymphocytic leukemia and its clinical significance.Methods Interphase fluorescence in situ hybridization (FISH) was used to detect the p53 gene deletion in 77 patients with CLL.Presence of the deletion and its association with clinical and laboratory features as well as prognostic factors were analyzed.Kaplan-Meier method was used to calculate survivals,and the results were compared using a Log-rank test.Results p53 gene deletion was found in 10 (12.9％) of the patients but none from the control group (P＜0.05).The deletion was found in 12.5％ (4/32) of ethnic Hans and 13.3％ (6/45) of ethnic Uyghurs (P＞0.05).No significant different distribution of p53 gene deletion was found in regard to sex,age,ethnity,peripheral blood cell count (except for Hb) or the levels of lactate dehydrogenase,β2-micro globulin and CD38 (P＞0.05).The deletion rate was higher in the group with high expression of ZAP-70 and patients with advanced stage disease than that in the group of low expression and early-stage CLL (P ＜ 0.05).Among 20 patients who received fludarabine therapy,the overall remission rate for those with p53 gene deletion (20％) was lower than those without (75％) (P＜0.05).With a median follow-up time of 39.0 (8.0-136.0) months,11 cases had died (14.3％),among them,7 cases died from CLL and related complications,and all of them were founded p53 gene deletion.In patients with p53 gene deletion,the progression-free survival (18 months) was shorter than those without the deletion (55 months) (P＜0.05).Conclusion The p53 gene deletion has been found in more than 10％ of patients with CLL,and the deletion rate did not significantly differ between ethnic Han and Uyghur patients.The deletion is associated with advanced stage of the disease.High-level ZAP-70 expression and the presence of p53 deletion are associated with shorter survival and poor response to fludarabine containing therapy.Therefore,drugs affecting the p53 signaling pathway should be avoided.
