NKT细胞淋巴瘤周剑峰解读.pptVIP

血浆EBV-DNA定量?评估EBV相关肿瘤最精确的指标，与肿瘤负荷、分期、进展正相关BoneMarrowTransplant.2003;31(2):105-11;Blood.2004;104(1):243-9SMILE方案治疗后血浆EBV-DNA定量与预后的关系?预测DFS和OS最有价值的独立预后参数Leukemia.2014;28(4):865-70PersistentlyundetectablePersistentlydetectablepresentationPersistentlydetectablepresentationANKLGeneNameChrom:PositionMutionTypePredictionfromSIFTPredictionfromPolyphen-2SubstitutionGenedescriptionThecandidatesomaticvariantsinFHL2patientFASTKD3chr5:7868314SpliceSite---FASTkinasedomains3HOXA10chr7cds-Indel----SVEP1chr9:113137745SpliceSite---vonWillebrandfactortypeA,EGFandpentraxindomaincontaining1ThecandidatevariantsrelatedwiththefamilyunderanautosomalrecessivemodelPCDH18chr4:138442574missenceTOLERATEDprobablydamagingS1006Lprotocadherin18CDK11Bchr1:1654067missence----MAGEC1chrX:140993945missenceTOLERATEDbenignF252SmelanomaantigenfamilyC,1NOS1chr12:117691485missenceTOLERATEDbenignL869Pnitricoxidesynthase1(neuronal)PPP1R14BP3chr4:140036422missence---proteinphosphatase1,regulatory(inhibitor)subunit14Bpseudogene3ThecandidatevariantsrelatedwiththefamilyunderanautosomaldominantmodelMLL3chr7:151970859missenseDAMAGINGprobablydamagingG315Smyeloid/lymphoidormixed-lineageleukemia3PCDH18chr4:138442574missenceTOLERATEDprobablydamagingS1006Lprotocadherin18ANKRD36chr2:missenceTOLERATED-G501V-EBV持续感染与基因组不稳定ANKL的体细胞高频突变Themostcommonabnormalities,unbalancedchromosomalabnormalities.NospecificchromosomalabnormalitiesassociatedwithANKLhadbeenidentifiedANKL的诊断要点ANKL是一种罕见但具有高度侵袭性的NK细胞肿瘤?急骤起病，病情凶险，生存期仅2周~2个月?高度侵袭性经过：不明原因高热、血象三少、肝脾淋巴结肿大、凝血功能异常、噬血细胞综合征、多器官功能衰竭?异常NK细胞免疫表型?EB病毒DNA阳性?IgH/TCR受体基因重排阴性?外周血/骨髓找到形态幼稚的大颗