目的探讨三阴型乳腺癌(triple-negative breast cancer,TNBC)中FOXC1、SOX10的表达与临床病理特征的关系及其临床意义。方法收集90例TNBC、60例非特殊类型浸润性乳腺癌(invasive breast carcinoma of no special type,IBC-NST)、40例癌...目的探讨三阴型乳腺癌(triple-negative breast cancer,TNBC)中FOXC1、SOX10的表达与临床病理特征的关系及其临床意义。方法收集90例TNBC、60例非特殊类型浸润性乳腺癌(invasive breast carcinoma of no special type,IBC-NST)、40例癌旁正常乳腺组织石蜡标本,采用免疫组化法检测FOXC1、SOX10的表达,分析其与临床病理特征的关系并复习相关文献。结果FOXC1和SOX10在TNBC(82.2%、70.0%)中阳性率均明显高于IBC-NST(11.7%、13.3%)及癌旁正常乳腺组织(7.5%、0),差异有统计学意义。FOXC1表达与TNBC肿瘤最大径、组织学分级、淋巴结转移、Ki-67增殖指数高、预后分期均相关(P<0.05),SOX10表达与TNBC肿瘤最大径、组织学分级、Ki-67增殖指数高、预后分期均相关(P<0.05),且TNBC中FOXC1与SOX10表达呈正相关(R=0.71,P<0.001)。Kaplan-Meier结果示FOXC1与肿瘤无进展生存期相关(P<0.05)。结论FOXC1和SOX10在TNBC中高表达,两者参与TNBC的发生、发展,在侵袭转移中可能起协同作用,对预后判断有一定价值。展开更多
The authors describe siblings with progressive external ophthalmoplegia (PEO) due to a novel heterozygous A to G transition at nucleotide 955 of C10Orf2 (Twinkle). The mutation was not identified in parents’ blood, h...The authors describe siblings with progressive external ophthalmoplegia (PEO) due to a novel heterozygous A to G transition at nucleotide 955 of C10Orf2 (Twinkle). The mutation was not identified in parents’ blood, hair follicles, buccal mucosa, or urinary epithelium, indicating germ line mosaicism. One sibling presented with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO), a phenotype previously associated with the POLG1 gene, highlighting the clinical overlap in autosomal PEO.展开更多
文摘目的探讨三阴型乳腺癌(triple-negative breast cancer,TNBC)中FOXC1、SOX10的表达与临床病理特征的关系及其临床意义。方法收集90例TNBC、60例非特殊类型浸润性乳腺癌(invasive breast carcinoma of no special type,IBC-NST)、40例癌旁正常乳腺组织石蜡标本,采用免疫组化法检测FOXC1、SOX10的表达,分析其与临床病理特征的关系并复习相关文献。结果FOXC1和SOX10在TNBC(82.2%、70.0%)中阳性率均明显高于IBC-NST(11.7%、13.3%)及癌旁正常乳腺组织(7.5%、0),差异有统计学意义。FOXC1表达与TNBC肿瘤最大径、组织学分级、淋巴结转移、Ki-67增殖指数高、预后分期均相关(P<0.05),SOX10表达与TNBC肿瘤最大径、组织学分级、Ki-67增殖指数高、预后分期均相关(P<0.05),且TNBC中FOXC1与SOX10表达呈正相关(R=0.71,P<0.001)。Kaplan-Meier结果示FOXC1与肿瘤无进展生存期相关(P<0.05)。结论FOXC1和SOX10在TNBC中高表达,两者参与TNBC的发生、发展,在侵袭转移中可能起协同作用,对预后判断有一定价值。
文摘The authors describe siblings with progressive external ophthalmoplegia (PEO) due to a novel heterozygous A to G transition at nucleotide 955 of C10Orf2 (Twinkle). The mutation was not identified in parents’ blood, hair follicles, buccal mucosa, or urinary epithelium, indicating germ line mosaicism. One sibling presented with sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO), a phenotype previously associated with the POLG1 gene, highlighting the clinical overlap in autosomal PEO.
