摘要目的 初步探讨Akt/mTOR通路在卡萨巴赫-梅里特综合征(Kasabach-Merritt syndrome,KMS)发病机制中的作用.方法 采用免疫组织化学及免疫印迹方法检测15例KMS病灶组织及15例正常皮肤组织内Akt/mTOR信号通路关键蛋白Akt、pAkt、mTOR、pmTOR、S6、pS6、4E-BP1及p4E-BP1的表达,分析Akt/mTOR通路在KMS发病机制中的作用及意义.结果 Western-blot检测结果示,KMS病灶组织中Akt、pAkt蛋白表达强度为0.718±0.034和0.646±0.029,较正常皮肤组织0.382±0.028和0.426±0.027高,且差异均有统计学意义(P=0.017及0.032).病灶组织中mTOR、pmTOR蛋白表达强度为0.693±0.018和0.597±0.037,较正常皮肤组织0.491±0.042和0.438±0.015高,且差异均有统计学意义(P=0.041及0.037).病灶组织中S6、pS6蛋白表达强度为0.820±0.023和0.463±0.025,较正常皮肤组织0.537±0.018和0.238±0.019高,且差异均有统计学意义(P=0.029及0.038).病灶组织中4E-BP1蛋白表达强度为0.5 80±0.018,较正常皮肤组织0.874±0.031低;p4E-BP1的蛋白表达强度为0.733±0.020,较正常皮肤组织0.430±0.033高,且差异均有统计学意义(P=0.028及0.035).免疫组织化学染色结果示,Akt、pAkt、mTOR、pmTOR、S6、pS6、4E-BP1及p4E-BP1蛋白主要表达于细胞胞浆内,呈棕褐色,与正常皮肤组织相比,KMS病灶组织中Akt、pAkt、mTOR、pmTOR、S6、pS6、p4E-BP1蛋白阳性表达率增高,4E-BP1蛋白阳性表达率降低,且差异均有统计学意义(Ridit值分别为0.856、0.789、0.850、0.733、0.659、0.700、0.311和0.690,各组间95％CI值无重叠).结论 Akt、pAkt、mTOR、pmTOR、S6、pS6、p4E-BP1蛋白在KMS病灶组织中表达增高,而4E-BP1蛋白在KMS病灶组织中表达降低,提示Akt/mTOR信号通路在KMS中处于异常激活状态,Akt/mTOR信号通路可能参与KMS的发生发展.

abstractsObjective To explore the role of Akt/mTOR signaling pathway in the pathogenesis of Kasabach-Merritt syndrome (KMS) by observing the expressions of Akt,pAkt,mTOR,pmTOR,St6,pS6,4E-BP1 and p4E-BP1 in KMS in infants.Methods Western blot and immunohistochemistry were applied for detecting the expressions of Akt,pAkt,mTOR,pmTOR,S6,pS6,4E-BP1 and p4E-BP1 in dermal specimens from KMS (n =15) and normal skins (n =17).Results The protein expression levels of Akt,pAkt,mTOR,pmTOR,S6,pS6,4E-BP1 and p4E-BP1 in tissues of KMS were 0.718 ± 0.034,0.646 ± 0.029,0.693 ± 0.018,0.597 ± 0.037,0.820 ± 0.023,0.463 ± 0.025,0.580±0.018 and 0.733 ± 0.020;0.382 ± 0.028,0.426 ± 0.027,0.491 ± 0.042,0.438 ± 0.015,0.537 ± 0.018,0.238 ± 0.019,0.874 ± 0.031 and 0.430 ± 0.033 in normal skin tissues respectively.The Akt,pAkt,mTOR,pmTOR,S6,pS6 p4E-BP1 proteins were up-regulated in tissues of KMS while the expression of 4EBP1 decreased in tissues of KMS.And all of them had significant differences (P＜0.05).Conclusions The expressions of Akt,pAkt,mTOR,pmTOR,S6,pS6 and p4E-BP1 proteins are up-regulated and 4E-BP1 becomes down-regulated in tissues of KMS.Thus Akt/mTOR signaling pathway may play a role in the pathogenesis of KMS.