Novel clinicopathological and molecular characterization of metanephric adenoma: a study of 28 cases.
Novel clinicopathological and molecular characterization of metanephric adenoma: a study of 28 cases.
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后肾腺瘤的新临床病理学和分子特征：28 例研究
DOI：
10.1186/s13000-018-0732-x
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发表时间：
2018-08-16
影响因子：
2.6
通讯作者：
Zhang Z
中科院分区：
文献类型：
--
作者：
Ding Y;Wang C;Li X;Jiang Y;Mei P;Huang W;Song G;Wang J;Ping G;Hu R;Miao C;He X;Chen G;Li H;Zhu Y;Zhang Z
后肾腺瘤是一种少见的肾脏良性肿瘤，误诊率极高。然而，它的分子特征是不完全understood.MethodsIn这项研究中，我们使用的混合捕获为基础的下一代测序测序295个公认的癌基因或抑癌基因在28例MA患者在中国的面板。应用免疫组织化学方法检测后肾腺瘤中与丝裂原活化蛋白激酶（MAPK）通路相关的新的临床病理标志物（c.1799T> A，p.V600E）、NF 1（6/28）、NOTCH 1（5/28）、SPEN（5/28）、AKT 2（4/28）、APC（4/28）、ATRX（3/28）和ETV 4（3/28）突变。同时，在1例MA患者中检测到STARD 9-BRAF、CUX 1-BRAF和LOC 100507389-BRAF的新型罕见基因融合。此外，尽管MEK磷酸化被正常激活，但ERK磷酸化水平在后肾腺瘤病例中较低。高表达的p16和DUSP 6可能有助于这些结果，保持MA作为一个良性的肾脏tumor.ConclusionsThis研究提供了新的分子和病理标志物的后肾腺瘤，这可能会提高其诊断和增加其病理机制的理解。
BackgroundMetanephric adenoma is a rare, benign renal neoplasm with occasional misdiagnosis. However, its molecular characterization is not fully understood.MethodsIn this study, we use the hybrid capture-based Next-Generation Sequencing to sequence a panel of 295 well-established oncogene or tumor suppressor genes in 28 cases of MA patients in China. Novel clinicopathological markers associated with the mitogen-activated protein kinase (MAPK) pathway in metanephric adenoma were detected by immunohistochemistry.ResultsIt was found that except forBRAF(22/28) mutations (c.1799 T > A, p.V600E),NF1(6/28),NOTCH1(5/28),SPEN(5/28),AKT2(4/28),APC(4/28),ATRX(3/28), andETV4(3/28) mutations could also be detected. Meanwhile, a novel and rare gene fusion ofSTARD9-BRAF,CUX1-BRAF, andLOC100507389-BRAFwas detected in one MA patient. In addition, although MEK phosphorylation was normally activated, the phosphorylation level of ERK was low in metanephric adenoma cases. Highly expressed p16 and DUSP6 may have contributed to these results, which maintained MA as a benign renal tumor.ConclusionsThis study provides novel molecular and pathological markers for metanephric adenoma, which could improve its diagnosis and increase the understanding of its pathologic mechanism.
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影响因子：
7.3
作者：
Gao J;Aksoy BA;Dogrusoz U;Dresdner G;Gross B;Sumer SO;Sun Y;Jacobsen A;Sinha R;Larsson E;Cerami E;Sander C;Schultz N
通讯作者：
Schultz N
影响因子：
6.3
作者：
Kim A;Cohen MS
通讯作者：
Cohen MS
影响因子：
2.7
作者：
Kluska A;Balabas A;Piatkowska M;Czarny K;Paczkowska K;Nowakowska D;Mikula M;Ostrowski J
通讯作者：
Ostrowski J
影响因子：
4.5
作者：
Bastide, Cyrille;Rambeaud, Jean-Jacques;Russo, Paul
通讯作者：
Russo, Paul
DOI：
10.1073/pnas.1525619113
发表时间：
2016-02-02
影响因子：
11.1
作者：
Fang, Minggang;Hutchinson, Lloyd;Green, Michael R.
通讯作者：
Green, Michael R.