未分化小圆细胞肿瘤(undifferentiated small round cell sarcomas,USRCS)是一种EWSR1基因阴性的高侵袭性恶性肿瘤,进展迅速、预后不良,易出现肺转移,在儿童和青年人群好发[1]。显微镜检显示,USRCS主要由体积小到中型的圆形或椭圆形细...未分化小圆细胞肿瘤(undifferentiated small round cell sarcomas,USRCS)是一种EWSR1基因阴性的高侵袭性恶性肿瘤,进展迅速、预后不良,易出现肺转移,在儿童和青年人群好发[1]。显微镜检显示,USRCS主要由体积小到中型的圆形或椭圆形细胞构成,呈实性片状分布,中间有少量胶原纤维。这种典型的形态学特征及高侵袭性与尤文肉瘤的表现一致[2],故在临床上也被称为“尤文样肉瘤”[3]。两者的恶性程度和临床表现不同,需要加以鉴别。USRCS具有特异基因突变,主要表现为19q13.2位置CIC基因的断裂融合,形成CIC-DUX4、CIC-FOXO4融合基因,在软组织恶性肿瘤中多见[2]。西京医院收治1例CIC基因断裂USRCS患者,症状典型,现报道如下。展开更多
Mutations in the type VII collagen gene (COL7A1) cause autosomal recessive and autosomal dominant inherited dystrophic epidermolysis bullosa (DEB). We report a family with three individuals who present blistering, sca...Mutations in the type VII collagen gene (COL7A1) cause autosomal recessive and autosomal dominant inherited dystrophic epidermolysis bullosa (DEB). We report a family with three individuals who present blistering, scarring, hypo- and hyperpigmentation, and nail dystrophy suggestive for DEB.Whereas father and son carry a 5;13 translocation, the daughter shows a normal karyotype. Segregation analysis revealed that all affected family members inherited the same COL7A1 allele. Mutation analysis disclosed a heterozygous missense mutation, c.6227G > A (p.G2076D), in COL7A1 in all affected individuals. Delineation of the translocation breakpoints showed that the ERBB2IP (erbb2 interacting protein or Erbin) gene is disrupted in 5q13.1 and GPC6 in 13q32. GPC6 encodes glypican 6 belonging to a family of cell surface heparan sulfate proteoglycans. The binding partners of Erbin,BP230 (BPAG1)- and the integrin β 4 subunit, both involved in hemidesmosome (HD) function, and the presence of Erbin in HD suggested that it plays a role in establishment and maintenance of cell-basement membrane adhesions. However, loss of function of one ERBB2IP copy or expression of a putative novel ERBB2IP fusion protein did not apparently modulate the DEB phenotype in both translocation patients. Nonetheless, one cannot yet exclude that ERBB2IP is a candidate for human blistering disorders such as epidermolysis bullosa.展开更多
文摘未分化小圆细胞肿瘤(undifferentiated small round cell sarcomas,USRCS)是一种EWSR1基因阴性的高侵袭性恶性肿瘤,进展迅速、预后不良,易出现肺转移,在儿童和青年人群好发[1]。显微镜检显示,USRCS主要由体积小到中型的圆形或椭圆形细胞构成,呈实性片状分布,中间有少量胶原纤维。这种典型的形态学特征及高侵袭性与尤文肉瘤的表现一致[2],故在临床上也被称为“尤文样肉瘤”[3]。两者的恶性程度和临床表现不同,需要加以鉴别。USRCS具有特异基因突变,主要表现为19q13.2位置CIC基因的断裂融合,形成CIC-DUX4、CIC-FOXO4融合基因,在软组织恶性肿瘤中多见[2]。西京医院收治1例CIC基因断裂USRCS患者,症状典型,现报道如下。
文摘Mutations in the type VII collagen gene (COL7A1) cause autosomal recessive and autosomal dominant inherited dystrophic epidermolysis bullosa (DEB). We report a family with three individuals who present blistering, scarring, hypo- and hyperpigmentation, and nail dystrophy suggestive for DEB.Whereas father and son carry a 5;13 translocation, the daughter shows a normal karyotype. Segregation analysis revealed that all affected family members inherited the same COL7A1 allele. Mutation analysis disclosed a heterozygous missense mutation, c.6227G > A (p.G2076D), in COL7A1 in all affected individuals. Delineation of the translocation breakpoints showed that the ERBB2IP (erbb2 interacting protein or Erbin) gene is disrupted in 5q13.1 and GPC6 in 13q32. GPC6 encodes glypican 6 belonging to a family of cell surface heparan sulfate proteoglycans. The binding partners of Erbin,BP230 (BPAG1)- and the integrin β 4 subunit, both involved in hemidesmosome (HD) function, and the presence of Erbin in HD suggested that it plays a role in establishment and maintenance of cell-basement membrane adhesions. However, loss of function of one ERBB2IP copy or expression of a putative novel ERBB2IP fusion protein did not apparently modulate the DEB phenotype in both translocation patients. Nonetheless, one cannot yet exclude that ERBB2IP is a candidate for human blistering disorders such as epidermolysis bullosa.
