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Genetic analysis of uterine adenosarcomas and phyllodes tumors of the breast

机译:子宫腺肉瘤和乳腺叶状肿瘤的遗传分析

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摘要

Uterine adenosarcomas and breast phyllodes tumors (PTs) are morphologically similar, being composed of stromal projections in a leaf‐like fashion lined by epithelial cells. Here, we investigated whether their histologic similarities would be mirrored at the genetic level. The previously reported repertoires of somatic genetic alterations found in 19 adenosarcomas and 22 PTs (six benign, six borderline, and 10 malignant) were compared. PTs significantly more frequently displayed mutations affecting MED12, the TERT gene promoter and bona fide cancer genes, whereas adenosarcomas harbored a higher rate of MDM2/CDK4 and TERT gene amplifications. Pathway analyses based on the genes affected by somatic genetic alterations in these tumors indicated that Wnt signaling likely plays a role in the biology of adenosarcomas and benign/borderline PTs. In conclusion, despite the differences at the gene level, PTs and adenosarcomas share remarkable morphologic similarities and enrichment for somatic genetic alterations affecting Wnt pathway‐related genes.
机译:子宫腺肉瘤和乳腺叶状肿瘤(PTs)在形态上相似,由上皮细胞排列的叶状方式的间质突起组成。在这里,我们调查了它们的组织学相似性是否会在遗传水平上得到反映。比较了先前报道的在19例腺肉瘤和22例PT(6例良性,6例交界性和10例恶性)中发现的体细胞遗传变异谱。 PTs更频繁地显示出影响MED12,TERT基因启动子和真正癌症基因的突变,而腺肉瘤的MDM2 / CDK4和TERT基因扩增率更高。基于受这些肿瘤中体细胞遗传改变影响的基因的通路分析表明,Wnt信号可能在腺肉瘤和良性/边界性PTs的生物学中发挥作用。总之,尽管在基因水平上存在差异,但PT和腺肉瘤在影响Wnt通路相关基因的体细胞遗传变异方面具有明显的形态相似性和丰富性。

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