摘要
目的 探讨再生障碍性贫血（AA）单体7（-7）克隆的演变.方法 应用间期荧光原位杂交（FISH）技术分析81例核型正常的初诊AA患者及46例免疫抑制联合重组人粒细胞集落刺激因子（rhuG-CSF,疗程大于6个月）治疗后AA患者的-7克隆.结果 81例初诊AA患者中,11例（13.6%）-7克隆阳性,阳性细胞比例5.4%～7.6%,-7克隆阳性患者疗效及生存率与-7克隆阴性者相比差异无统计学意义（P值分别为0.481和0.865）,11例阳性患者（包括5例rhuG-CSF疗程大 于6个月者）治疗后-7比例均下降至正常,中位随访时间44个月,未发现转化为骨髓增生异常综合征（MDS）或急性髓系白血病（AML）的证据;追踪随访46例AA患者的-7克隆,治疗后3～6个月均为阴性,治疗后12～15个月5例阳性,中位随访时间48个月,FISH共检测到6例-7克隆阳性,均进展为MDS或AML,5例为-7核型.FISH检出阳性克隆的时间较常规核型分析提前3～18个月;应用HSH技术回顾性分析了4例转化为MDS或AML的AA患者初诊时标本,-7克隆均为阴性.结论 部分初诊AA患者具有潜在低比例的-7克隆,但与治疗反应及最终进展为克隆性疾病无关;rhuG-CSF可能促进-7克隆扩增,长期应用rhuG-CSF治疗的AA患者需用间期FISH技术密切监测异常克隆.
Objective To explore the clonal evolution of monosomy 7 in patients with aplastic anemia （AA）.Methods Monosomy 7（-7）in 81 AA patients with normal karyotype at diagnosis and 46 AA treated with innnunosuppressive therapy（IST）and more than 6 months of recombinant human granulocyte colonystimulating factor（rhuG-CSF）were detected by interphase-fluorescence in situ hybridization（FISH）retrospectively.Results There were 5.4%-7.6% of-7 cells in 11（13.6%）of 81 patients at diagnosis,the survival and response rate to IST in-7 positive patients did not differ significantly from that in-7 negative patients（P = 0.481,0.865）;-7 cells disappeared after IST in all of the 11 patients including 5 received long-term rhuG-CSF therapy,and none of them evolved to myelodysplastic syndromes/acute myeloid leukemia （MDS/AML）at a median follow-up of 44 months.Serial assessments of-7 clones were performed in 46 patients,none of whom detected-7 clones 3-6 months after IST,but-7 recurrence in 5 patients 12-15months after IST.At a median follow-up of 48 months,FISH identified 6 patients with-7 clones while the conventional cytogenetic analysis（CCA）recognized in 5.Moreover,the first demonstration of-7 by FISH was 3-18 months earlier than that by CCA.All of the 6 patients with FISH detected-7 evolved to MDS/AML with-7 and four of them were retrospectively analysed for in samples at-7 diagnosis of AA,but none of them was positive.Conclusions Monosomy 7 exists in a part of AA patients,but the preexisting-7 cells seems neither associated with fatality nor evolvation to MDS/AML.rhuG-CSF might facilitate the expansion of -7 clones;It is necessary to monitor-7 in AA,especially when received long-term rhuG-CSF therapy.
出处
《中华血液学杂志》
CAS
CSCD
北大核心
2010年第10期688-692,共5页
Chinese Journal of Hematology
关键词
贫血
再生障碍性
原位杂交
荧光
核型分析
粒细胞集落刺激因子
Anemia,aplastic
In situ hybridization,fluorescence
Chromosome analysis
Granulocyte colony-stimulating factor
