-连环蛋白在毛母细胞瘤中的表达。-连环蛋白基因突变与正常毛囊中-连环蛋白表达的关系。
文章的细节
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引用
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Moreno-Bueno G, Gamallo C, Perez-Gallego L, Contreras F, Palacios J
-连环蛋白在毛母细胞瘤中的表达。-连环蛋白基因突变与正常毛囊中-连环蛋白表达的关系。
中华皮肤杂志2001 10月;145(4):576-81。
- PubMed ID
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11703283 (PubMed视图]
- 摘要
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背景:β -连环蛋白在Wnt信号通路中的信号转导中起作用,该信号通路最近与毛囊(HF)形态发生有关。-连环蛋白基因突变影响外显子3已报道在高百分比的人类毛母细胞瘤。然而,β -连环蛋白在人hf和毛母细胞瘤中的表达模式尚未见报道。目的:用免疫组化方法分析-连环蛋白在正常生长期HFs和40例人毛母细胞瘤中的表达模式。方法:在其中11个肿瘤中,我们还通过聚合酶链式反应和直接测序研究了外显子3 -连环蛋白基因突变。由于这些突变与其他肿瘤类型的复制错误(RER)表型有关,我们探讨了这种关联是否也发生在毛母细胞瘤中。结果:β -连环蛋白在HF球根鞘内外膜、基部和外围基质细胞中均有表达。然而,分化为皮层细胞、皮层细胞和角质层细胞的中心基质细胞在细胞核中表达β -连环蛋白,提示其在信号转导中起作用。此外,真皮乳头部分成纤维细胞也有-连环蛋白的核表达。所分析的40例毛母细胞瘤在增殖基质(基底样)细胞中均表现出强烈的核和细胞质-连环蛋白表达。 In areas of maturation, transitional cells mainly showed cytoplasmic and membranous expression of beta-catenin, while only a few cells retained nuclear expression. Shadow or ghost cells did not show beta-catenin expression. Three of 11 tumours (26%) had beta-catenin mutations. All three had the same heterozygote mis-sense mutation: a G to T change affecting the first nucleotide at codon 32 (D32Y). None of the 11 tumours studied had a positive RER phenotype. CONCLUSIONS: Present and previous studies suggest that the Wnt/beta-catenin/Tcf-Lef pathway is activated in normal matrix cells of the HF to induce differentiation to the hair shaft. Additionally, the beta-catenin mutation in matrix cells of the HF stabilizes beta-catenin protein, which translocates into the nucleus, where it activates of gene transcription together with lymphoid enhancer factor-1 producing pilomatrixoma. These mutations occur without an underlying defect in DNA mismatch repair.