β-catenin and its related gene mutations in childhood solid tumors

在包括肝母细胞瘤在内的儿童实体瘤中，对β-Batenin及其相关基因Axin的突变进行了全面的研究。关于β-Batenin基因，77%的肝母细胞瘤和25%的肾母细胞瘤检测到突变。所有突变都被预测会导致作为GSK-3b磷酸化靶点的特定残基的改变。除了肝母细胞瘤和肾母细胞瘤，在胰腺的实体和囊性肿瘤中也观察到类似的突变。关于Axin基因，在总共102个由不同类型的恶性肿瘤组成的肿瘤中，对该基因的全部10个外显子进行了彻底的研究。在所研究的22例肝母细胞瘤中，检测到12种不同的核苷酸变化。其中11个基因被预测为不会导致氨基酸替代，并在多个案例中观察到，表明这些基因是多态的。然而，第95密码子的核苷酸变化(agg-&gt；atg)被认为导致了氨基酸替换，即Thr-&gt；Met，并且只在一个肝母细胞瘤病例中观察到。对80个其他肿瘤的Axin基因的分析发现，总共有10个核苷酸变化，其中9个被认为是多态。然而，在1例畸胎瘤中观察到的其余1个核苷酸改变发生在第98密码子(CCG-&GT；CTG)，并被预测导致Pro-&GT；Leu氨基酸替换。与β-Batenin突变相比，Axin突变在大多数儿童实体肿瘤的发生中被认为参与较少，然而，在包括肝母细胞瘤在内的特定病例中，Axin突变可能具有一定的作用。

In pediatric solid tumors including hepatoblastomas, mutations of β-batenin and its relating gene, Axin, were comprehensively investigated.1. Regarding β-batenin gene, mutations were detected in 77% of hepatoblastomas and 25% of nephroblastomas investigated. All mutations were predicted to result in alteration at the specific residues which were phosphorylation targets of GSK-3 b. Addition to hepatoblastomas and nephroblastomas, similar mutations were observed in solid and cystic tumors of the pancreas2. Regarding Axin genes, all ten exons of the gene were thoroughly investigated in a total of 102 tumors composed of various types of malignancies. In 22 hepatoblastomas investigated, 12 different nucleotide changes were detected. Eleven of these were predicted to result in no amino acid substitution and observed in multiple cases, suggesting that these were polymorphisms. However, a nucletide change at codon 95 (AGG->ATG) was thought to result in amino acid substitution, Thr->Met, and observed in only one hepatoblastoma case.3. Analysis of the Axin gene in 80 other tumors detected a total of 10 nucleotide changes, and 9 of these were considered to be polymorphisms. However, the remaining one nucleotide change which was observed in one teratoma case, occurred at codon 98 (CCG->CTG) and was predicted to result in Pro->Leu amino acid substitution.4. Axin mutations were considered to be less involved in the tumorigenesis of most pediatric solid tumors compared to mutations of β-batenin, however, may have a role in particular caseS' including hepatoblastoma.