Clinical, Pathologic, and Genetic Features of Wilms Tumors With WTX Gene Mutation
Clinical, Pathologic, and Genetic Features of Wilms Tumors With WTX Gene Mutation
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DOI：
10.1177/1093526616683881
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发表时间：
2017-04
影响因子：
1.9
通讯作者：
S. Alexandrescu;S. Akhavanfard;M. Harris;S. Vargas
中科院分区：
文献类型：
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作者：
S. Alexandrescu;S. Akhavanfard;M. Harris;S. Vargas
WTX 突变肾母细胞瘤 (WT) 患者的临床和病理特征尚未得到详细研究。我们描述了具有 WTX 异常的 WT 的临床和病理结果，并与无 WTX 突变的 WT 进行了比较。对 35 名 WT 患者的临床、大体和微观特征进行了检查。对一部分病例进行了核型检查。所有病例之前均已通过阵列比较基因组杂交进行了 WTX、WT1 和 CTNNB1 畸变分析；对 18 例病例进行了 OncoMap 4 高通量基因分型。 11 个肿瘤有 WTX 异常。突变与非突变 WTX 患者在性别（男性 45% 对 33%）、年龄（平均 3.9 岁对 4.1 岁）、肿瘤大小（平均 12.7 厘米对 12.8 厘米）、退行性变（9% 对 12%）、横纹肌细胞分化（18% 对 8%）、软骨分化（9% 对 4%）、粘液上皮分化方面没有显着差异。 （9% 与 4%）、肾源性休息（28% 与 21%）或复发率（11% 与 25%）。 KRAS、MYC 和 PIK3R1 突变仅限于 WTX 突变的 WT，AKT、CKDN2A、EFGR、HRAS、MET 和 RET 突变仅限于无 WTX 突变的 WT，BRAF、CTTNB1、NRAS、PDGFRA 和 STK11 突变在两组中均可见。我们的研究显示，有和没有 WTX 异常的 WT 之间没有临床或病理学差异。这种相似性支持了具有异常 WTX 的 WT 与不具有异常 WTX 的 WT 之间存在共同致瘤途径的概念。
Clinical and pathologic features of patients with WTX-mutated Wilms tumor (WT) have not been studied in detail. We characterize the clinical and pathologic findings in WT with WTX abnormalities and provide comparison with WT without WTX mutation. Clinical, gross, and microscopic features in 35 patients with WT were examined. Karyotype was examined in a subset of cases. All cases had been previously analyzed for WTX, WT1, and CTNNB1 aberrations via array comparative genomic hybridization; OncoMap 4 high throughput genotyping was performed on 18 cases. Eleven tumors had WTX abnormality. No significant differences were identified between patients with mutated versus nonmutated WTX with respect to gender (45% versus 33% male), age (mean 3.9 versus 4.1 years), tumor size (mean 12.7 cm versus 12.8 cm), anaplasia (9% versus 12%), rhabdomyoblastic differentiation (18% versus 8%), cartilage differentiation (9% versus 4%), mucinous epithelial differentiation (9% versus 4%), nephrogenic rests (28% versus 21%), or relapse rate (11% versus 25%). Mutations in KRAS, MYC, and PIK3R1 were restricted to WTX-mutated WT, mutations in AKT, CKDN2A, EFGR, HRAS, MET, and RET were restricted to WT without WTX mutation, and mutations in BRAF, CTTNB1, NRAS, PDGFRA, and STK11 were seen in both groups. Our study revealed no clinical or pathologic distinctions between WT with and without WTX abnormality. This similarity lends support to the concept of a common tumorigenic pathway between WT with aberrant WTX and those without.