The suitability of NONO-TFE3 dual-fusion FISH assay as a diagnostic tool for NONO-TFE3 renal cell carcinoma.
The suitability of NONO-TFE3 dual-fusion FISH assay as a diagnostic tool for NONO-TFE3 renal cell carcinoma.
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DOI：
10.1038/s41598-020-73309-4
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发表时间：
2020-10-01
影响因子：
4.6
通讯作者：
Li D
中科院分区：
文献类型：
--
作者：
Liu N;Guo W;Shi Q;Zhuang W;Pu X;Chen S;Qu F;Xu L;Zhao X;Li X;Zhang G;Guo H;Gan W;Li D
NONO-TFE3 RCC是Xp11.2易位性肾细胞癌（RCC）的一个亚型。由于缺乏有效的诊断方法，目前仅报道了少量NONO-TFE3 RCC。利用本文报道的新型双融合荧光原位杂交（FISH）探针，鉴定出5例NONO-TFE3型RCC，并最终通过RT-PCR证实。病理组织学上，5例均可见上皮细胞片和乳头状结构。细胞质非常清晰，核仁不明显。此外，还发现了核栅栏、亚核空泡和沙粒小体。最显著的特征是TFE3染色强烈阳性，但TFE3探针分裂信号模糊，这可能导致Xp11.2易位性RCC的误诊。5例患者的中位年龄为41.2岁，中位肿瘤大小为3.6 cm。中位随访27个月显示NONO-TFE3型RCC患者的疾病进展和预后中等。总之，本研究证明了NONO-TFE3双融合FISH探针诊断NONO-TFE3 RCC的有效性和可靠性。疑似Xp11.2易位性RCC的病例显示双相模式，TFE3染色强烈阳性，TFE3 FISH检测中分裂信号模糊，提示NONO-TFE3 RCC的可能性。
NONO-TFE3 RCC is a subtype of Xp11.2 translocation renal cell carcinoma (RCC). So far, only a small amount of NONO-TFE3 RCC have been reported owing to lack of effective diagnosis methods. Utilizing the novel dual-fusion fluorescence in situ hybridization (FISH) probe reported here, 5 cases of NONO-TFE3 RCC were identified and were ultimately confirmed by RT-PCR. Histopathology, all 5 cases were consisted by sheets of epithelial cells and papillary architecture. The cytoplasm was abundantly clear, and nucleoli was not prominent. Besides, the nuclear palisading, subnuclear vacuoles and psammoma bodies were identified. The most distinctive features were strong positive TFE3 staining but equivocal split signals of the TFE3 probe, which might lead to the misdiagnosis of Xp11.2 translocation RCC. The median age and median tumor size of the five patients were 41.2 years and 3.6 cm, respectively. A median following follow-up of 27 months showed moderate disease progression and prognosis in NONO-TFE3 RCC patients. In conclusion, the present study demonstrates the effectiveness and reliability of the NONO-TFE3 dual-fusion FISH probe for diagnosing NONO-TFE3 RCC. Suspected cases of Xp11.2 translocation RCC showing biphasic pattern, strong positive TFE3 staining, and equivocal split signals in the TFE3 FISH assay indicated a possibility of NONO-TFE3 RCC.
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影响因子：
23.4
作者：
Moch, Holger;Cubilla, Antonio L.;Ulbright, Thomas M.
通讯作者：
Ulbright, Thomas M.
PRCC-TFE3 双融合 FISH 检测：石蜡包埋组织中鉴定 PRCC-TFE3 肾细胞癌的新方法
影响因子：
3.7
作者：
Xiong L;Chen X;Liu N;Wang Z;Miao B;Gan W;Li D;Guo H
通讯作者：
Guo H
通过免疫组织化学和 FISH 检测诊断成人 Xp11.2 易位肾细胞癌：来自中国人群的临床病理数据。
影响因子：
4.6
作者：
Qu Y;Gu C;Wang H;Chang K;Yang X;Zhou X;Dai B;Zhu Y;Shi G;Zhang H;Ye D
通讯作者：
Ye D
DOI：
10.1097/pas.0000000000000631
发表时间：
2016-06
期刊：
The American journal of surgical pathology
影响因子：
--
作者：
Argani P;Zhong M;Reuter VE;Fallon JT;Epstein JI;Netto GJ;Antonescu CR
通讯作者：
Antonescu CR
影响因子：
5.6
作者：
Green, Whitney M.;Yonescu, Raluca;Argani, Pedram
通讯作者：
Argani, Pedram