Lipoid proteinosis （LP,OMIM 247100）,also known as Urbach-Wiethe disease or lipoidosis cutis et mucosae,was first described by Urbach and Wiethe in 1929.It is a rare autosomal recessive genodermatosis characterized b...Lipoid proteinosis （LP,OMIM 247100）,also known as Urbach-Wiethe disease or lipoidosis cutis et mucosae,was first described by Urbach and Wiethe in 1929.It is a rare autosomal recessive genodermatosis characterized by hoarseness from early infancy,distinctive skin and neurological manifestations,and cutaneous lesions.It affects mucosal membranes of the upper respiratory tract,upper digestive tract,central nervous system,lymph nodes,and striated muscles.Hamada identified the genetic defect to be a loss-of-function mutation or reduced expression of the gene encoding extracellular matrix protein 1 （ECM1） on chromosome lq21 in 2002.So far,approximately,300 cases have been reported.This article reported a case with clinical and molecular findings compatible with LP.展开更多
目的:探讨细胞外基质蛋白1(extracellular matrix protein 1,ECM1)在肿瘤组织中的表达及意义。方法:应用免疫组织化学EnVision法,检测肝脏、乳腺、直肠组织(正常组织和肿瘤组织)中ECM1的表达,比较正常组织和肿瘤组织淋巴结转移肿瘤和淋...目的:探讨细胞外基质蛋白1(extracellular matrix protein 1,ECM1)在肿瘤组织中的表达及意义。方法:应用免疫组织化学EnVision法,检测肝脏、乳腺、直肠组织(正常组织和肿瘤组织)中ECM1的表达,比较正常组织和肿瘤组织淋巴结转移肿瘤和淋巴结未转移肿瘤之间的ECM1表达差异。结果:ECM1的表达如下:正常肝组织阳性率20.0％(4／20),肝癌组织阳性率85.4％(70／82);正常乳腺组织阳性率9.1％(1／11),乳腺癌组织阳性率60.0％(18／30),其中淋巴结(一)者为37.5％(6／16),淋巴结(+)者为85.7％(12／14);正常直肠组织阳性率11.8％(2／17),直肠癌组织阳性率54.5％(18／33),其中淋巴结(一)者为33.3％(6／18),淋巴结(+)者为80.0％(12／15)。统计分析表明,对ECM1的表达,肿瘤组织高于正常组织,淋巴结转移性肿瘤高于非转移性(P<0.01)。结论:ECM1在肿瘤组织中过表达,并且与肿瘤的转移相关。展开更多
基金Acknowledgment We are grateful to the patient＇s family for their contribution and participation in this clinical report. We also thank our colleagues Mr. Wei Wang and Mr. Jing Xie for their help in collecting blood samples.This study was supported by a grant of National Natural Science Foundation of China （No. 81371723）.
文摘Lipoid proteinosis （LP,OMIM 247100）,also known as Urbach-Wiethe disease or lipoidosis cutis et mucosae,was first described by Urbach and Wiethe in 1929.It is a rare autosomal recessive genodermatosis characterized by hoarseness from early infancy,distinctive skin and neurological manifestations,and cutaneous lesions.It affects mucosal membranes of the upper respiratory tract,upper digestive tract,central nervous system,lymph nodes,and striated muscles.Hamada identified the genetic defect to be a loss-of-function mutation or reduced expression of the gene encoding extracellular matrix protein 1 （ECM1） on chromosome lq21 in 2002.So far,approximately,300 cases have been reported.This article reported a case with clinical and molecular findings compatible with LP.
文摘目的:探讨细胞外基质蛋白1(extracellular matrix protein 1,ECM1)在肿瘤组织中的表达及意义。方法:应用免疫组织化学EnVision法,检测肝脏、乳腺、直肠组织(正常组织和肿瘤组织)中ECM1的表达,比较正常组织和肿瘤组织淋巴结转移肿瘤和淋巴结未转移肿瘤之间的ECM1表达差异。结果:ECM1的表达如下:正常肝组织阳性率20.0％(4／20),肝癌组织阳性率85.4％(70／82);正常乳腺组织阳性率9.1％(1／11),乳腺癌组织阳性率60.0％(18／30),其中淋巴结(一)者为37.5％(6／16),淋巴结(+)者为85.7％(12／14);正常直肠组织阳性率11.8％(2／17),直肠癌组织阳性率54.5％(18／33),其中淋巴结(一)者为33.3％(6／18),淋巴结(+)者为80.0％(12／15)。统计分析表明,对ECM1的表达,肿瘤组织高于正常组织,淋巴结转移性肿瘤高于非转移性(P<0.01)。结论:ECM1在肿瘤组织中过表达,并且与肿瘤的转移相关。
