PMID- 27934879 OWN - NLM STAT- MEDLINE DCOM- 20180305 LR - 20230210 IS - 1530-0285 (Electronic) IS - 0893-3952 (Linking) VI - 30 IP - 3 DP - 2017 Mar TI - Xp11.2 translocation renal cell carcinoma with NONO-TFE3 gene fusion: morphology, prognosis, and potential pitfall in detecting TFE3 gene rearrangement. PG - 416-426 LID - 10.1038/modpathol.2016.204 [doi] AB - Xp11 translocation renal cell carcinomas are characterized by several different translocations involving the TFE3 gene. Tumors with different specific gene fusions may have different clinicopathological manifestations. Fewer than 10 renal cell carcinoma cases with NONO-TFE3 have been described. Here we examined eight additional cases of this rare tumor using clinicopathological, immunohistochemical, and molecular analyses. The male-to-female ratio of our study cohort was 1:1, and the median age was 30 years. The most distinctive feature of the tumors was that they exhibited glandular/tubular or papillary architecture that was lined with small-to-medium cuboidal to high columnar cells with indistinct cell borders and an abundantly clear or flocculent eosinophilic cytoplasm. The nuclei were oriented toward the luminal surface and were round and uniform in shape, which resulted in the appearance of secretory endometrioid subnuclear vacuolization. The distinct glandular/tubular or papillary architecture was often accompanied by sheets of epithelial cells that presented a biphasic pattern. Immunohistochemically, all eight cases demonstrated moderate (2+) or strong (3+) positive staining for TFE3, CD10, RCC marker, and PAX-8. None of the tumors were immunoreactive for CK7, Cathepsin K, Melan-A, HMB45, Ksp-cadherin, Vimentin, CA9, 34betaE12 or CD117. NONO-TFE3 fusion transcripts were identified in six cases by RT-PCR. All eight cases showed equivocal split signals with a distance of nearly 2 signal diameters and sometimes had false-negative results. Furthermore, we developed a fluorescence in situ hybridization (FISH) assay to serve as an adjunct diagnostic tool for the detection of the NONO-TFE3 fusion gene and used this method to detect the fusion gene in all eight cases. Long-term follow-up (range, 10-102 months) was available for 7 patients. All 7 patients were alive with no evidence of recurrent disease or disease progression after their initial resection. This report adds to the known data regarding NONO-TFE3 renal cell carcinoma. FAU - Xia, Qiu-Yuan AU - Xia QY AD - Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing, China. FAU - Wang, Zhe AU - Wang Z AD - Department of Pathology, State Key Laboratory of Cancer Biology, Xi Jing Hospital, Fourth Military Medical University, Xi'an, China. FAU - Chen, Ni AU - Chen N AD - Department of Pathology, West China Hospital, West China Medical School, Sichuan University, Chengdu, China. FAU - Gan, Hua-Lei AU - Gan HL AD - Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China. FAU - Teng, Xiao-Dong AU - Teng XD AD - Department of Pathology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China. FAU - Shi, Shan-Shan AU - Shi SS AD - Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing, China. FAU - Wang, Xuan AU - Wang X AD - Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing, China. FAU - Wei, Xue AU - Wei X AD - Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing, China. FAU - Ye, Sheng-Bing AU - Ye SB AD - Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing, China. FAU - Li, Rui AU - Li R AD - Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing, China. FAU - Ma, Heng-Hui AU - Ma HH AD - Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing, China. FAU - Lu, Zhen-Feng AU - Lu ZF AD - Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing, China. FAU - Zhou, Xiao-Jun AU - Zhou XJ AD - Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing, China. FAU - Rao, Qiu AU - Rao Q AD - Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing, China. LA - eng PT - Journal Article DEP - 20161209 PL - United States TA - Mod Pathol JT - Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc JID - 8806605 RN - 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors) RN - 0 (DNA-Binding Proteins) RN - 0 (NONO protein, human) RN - 0 (Nuclear Matrix-Associated Proteins) RN - 0 (Octamer Transcription Factors) RN - 0 (RNA-Binding Proteins) RN - 0 (TFE3 protein, human) SB - IM MH - Adult MH - Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/*genetics MH - Carcinoma, Renal Cell/*genetics/pathology MH - DNA-Binding Proteins MH - Female MH - *Gene Rearrangement MH - Humans MH - Kidney Neoplasms/*genetics/pathology MH - Male MH - Middle Aged MH - Nuclear Matrix-Associated Proteins/*genetics MH - Octamer Transcription Factors/*genetics MH - *Oncogene Fusion MH - Prognosis MH - RNA-Binding Proteins/*genetics MH - Young Adult EDAT- 2016/12/10 06:00 MHDA- 2018/03/06 06:00 CRDT- 2016/12/10 06:00 PHST- 2016/07/14 00:00 [received] PHST- 2016/10/20 00:00 [revised] PHST- 2016/10/20 00:00 [accepted] PHST- 2016/12/10 06:00 [pubmed] PHST- 2018/03/06 06:00 [medline] PHST- 2016/12/10 06:00 [entrez] AID - S0893-3952(22)01264-9 [pii] AID - 10.1038/modpathol.2016.204 [doi] PST - ppublish SO - Mod Pathol. 2017 Mar;30(3):416-426. doi: 10.1038/modpathol.2016.204. Epub 2016 Dec 9.