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国家自然科学基金(81070756)

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相关作者:贺金晶张惠娜叶娟石鑫更多>>
相关机构:浙江大学医学院附属第二医院更多>>
发文基金:国家自然科学基金浙江省自然科学基金更多>>
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我国睑裂狭小综合征患者FOXL2基因突变研究被引量:3
2011年
目的明确我国睑裂狭小综合征(BPES)患者Forkhead box L2(rOXL2)基因突变位点及突变类型,分析突变引起的蛋白质结构变化,以提高疾病的诊断准确率。方法实验研究。2008年1月至2009年12月在浙江大学医学院附属第二医院眼科中心收集到5例我国BPES患者,采集患者外周静脉血,提取基因组脱氧核糖核酸(DNA),应用聚合酶链反应和DNA测序技术检测FOXL2基因编码序列,并与患者家属及110名正常人相应序列进行比对。结果两个家系中BPES患者均检测到c.672_701dup30(P.Ala224_Ala234dup)杂合突变,3例散发患者分别检测到c.655C〉T(P.Q219X)、c.370A〉G(P.K124E)和c.858_874dup17(P.P292fs)杂合突变。结论在BPES患者中发现FOXL2基因c.370A〉G(P.K124E)和c_858—874dup17(P.P292N)两种新的杂合突变,扩展了国内外FOXL2基因突变谱,在两个家系中均发现c.672_701dup30(P.Ala224_Ala234dup)杂合突变,再次证明这一位点为国内BPES患者FOXL2基因突变热点。
叶娟石鑫贺金晶张惠娜
关键词:睑裂狭小叉头转录因子类突变
Clinicopathologic features and prognostic factors of malignant eyelid tumors
2013年
AIM:To investigate the clinical characteristics and prognosis of patients with malignant eyelid tumors.·METHODS:This was a retrospective,non-randomized,clinical reviews.Between January,2002 and December,2011,75 cases with histologically confirmed malignant eyelid tumors were evaluated.Patients’ charts were reviewed for clinical information,treatment procedure,and disease course.Survival analysis in terms of recurrence-free survival was performed using age,sex,location of tumor and histopathological type.The followup ranged from 1 to 78 months(mean=21 months).·RESULTS:The 75 eyelid tumors included 35 basal cell carcinoma(BCC,46.7%),22 sebaceous gland carcinoma(SGC,29.3%),7 squamous cell carcinoma(SCC,9.3%),10 malignant melanoma(MM,13.3%),and 1 Merkel cell carcinoma(MCC,1.3%).Recurrence developed in 17cases(22.7%).The recurrence rate of BCC(4/35,11.4%)was significant lower than MM(6/10,60.0%,P <0.001).The mean interval of recurrence was 21 months(range 3-62) for all eyelid tumors.Tumor located at canthus had higher recurrence rate(50%) compared with those located at eyelid(19%,P <0.05).Histological type was independent variable for recurrence by Cox regression analysis.·CONCLUSION:It is important to achieve a negative tumor margin in canthus located malignant eyelid tumor.Clinicians should have a high level of suspicion for recurrence according to histological type when treating patients with eyelid tumor.
Chang-Jun WangHui-Na ZhangHan WuXin ShiJia-Jun XieJin-Jing HeKoung-Hoon KooKSang-Yeul LeeJuan Ye
关键词:LOCATIONRECURRENCE
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