简介：Theacquisitionofsecondarychromosomalaberrationsinchronicmyeloidleukemia(CML)patientswithPhiladelphiachromosome-positive(Ph+)karyotypesignifiesclonalevolutionassociatedwiththeprogressionofthediseasetoitsacceleratedorblasticphase.Therefore,theseaberrationshaveclinicalandbiologicalsignificance.T(3;12)(q26;p13),whichisarecurrentchromosomalaberrationobservedinmyeloidmalignancies,istypicallyassociatedwithdysplasiaofmegakaryocytes,multilineageinvolvement,shortdurationofanyblasticphase,andextremelypoorprognosis.Wehaveidentifiedarecurrentreciprocaltranslocationbetweenchromosomes3and12withdifferentbreakpointatbands3q21inthemalignantcellsfroma28-year-oldman.ThepatientwasinitiallydiagnosedashavingPh+CMLinthechronicphase.Thet(3;12)(q21;p13)translocationoccurred4yearsafterthepatientwasfirstdiagnosedwithCMLwhileundergoingtyrosinekinaseinhibitortherapy.Weconfirmedthet(3;12)(q21;p13)translocationviafluorescenceinsituhybridizationassaybyusingwhole-chromosomepaintprobesforchromosomes3and12.Ourfindingsdemonstratethat,similartootherrecurrenttranslocationsinvolving3q26suchast(3;3)andt(3;21),thet(3;12)(q21;p13)translocationisimplicatednotonlyinmyelodysplasticsyndromeandacutemyeloidleukemiabutalsointheprogressionofCML.Thesefindingsextendthediseasespectrumofthiscytogeneticaberration.

简介：目的探讨X—rayrepaircross—complementinggroup1（XRCC1）RB99Q基因多态性与结直肠癌易感性的关系。方法通过计算机检索和手工检索，收集有关XRCC1R399Q基因多态性与结直肠癌易感性关系的文献，筛选出符合条件的文献，应用Meta分析软件对各项研究进行异质性检验，计算合并OR值及其95％可信区间，并行敏感性分析和发表偏倚的评估。结果国内外共有21篇文献纳入研究（结直肠癌组6229例；对照组10692例）。Meta分析结果显示：XRCC1R399Q基因多态性在整个人群中与结直肠癌无明显的关联性（ORQQvs、RR=1．10，95％CI=0．90～1．35；ORQQ/RQvs.RR=1．02，95％CI=0．90～1．16；ORQQvs.RR/RQ=1．12，95％CI=0．95～1．33）。通过种族的分层分析发现XRCC1R399Q基因多态性与结直肠癌易感性在亚洲人群和欧洲人群中无差异。结论XRCC1R399Q基因多态性与结直肠癌间不存在明显的易感性。