PMID- 36656224 OWN - NLM STAT- MEDLINE DCOM- 20230123 LR - 20230123 IS - 0974-5130 (Electronic) IS - 0377-4929 (Linking) VI - 66 IP - 1 DP - 2023 Jan-Mar TI - A case of TFE3 translocation renal cell carcinoma with rare morphological features and literature review. PG - 135-140 LID - 10.4103/ijpm.ijpm_755_21 [doi] AB - CONTEXT: TFE3 translocation renal cell carcinoma (RCC) is a rare tumor that represents approximately 1% of RCC. It was classifed as a member of MiT family translocation RCCs by the World Health Organization in 2016. It is characterized by Xp11 translocation gene fusions involving TFE3. The diagnosis of TFE3 translocation RCC is based on immunohistochemical analysis and TFE3 break apart probes in FISH analysis, rather than histological characteristics and imaging examination. AIMS: To determine the clinico-pathological, immuno-phenotypic, and cytogenetic characteristics of TFE3 translocation RCC. METHODS AND MATERIALS: The clinical data of a 52-year-old-female patient with TFE3 translocation RCC exhibiting rare morphological characteristics was analyzed, and the tumor tissues were probed using histopathological staining, immunohistochemistry, and fluorescence in situ hybridization (FISH). In addition, the relevant literature was reviewed. RESULTS: This case is a TFE3 translocation RCC with rare morphological features. It composed of two types of tumor cells. TFE3 and pax-8 were diffusely and strongly expressed in both tumor cells, and they were partially positive for CAIX, RCC, CK, EMA, CD10, Vim, Melan-A, and p504s. Only 2% of the cells were positive for the proliferation marker Ki-67, and the tumor was negative for CK7, CD117, Inhibin-alpha, HBM45, and p53. FISH showed a positive signal for TFE3 translocation. CONCLUSIONS: This case was a TFE3 translocation RCC with rare morphological features. Through this case report, we emphasize the importance of in situ detection of TFE3 gene translocation and protein in TFE3 translocation RCC. FAU - Xia, Tian AU - Xia T AD - Department of Pathology, The Affiliated Hospital of Southwest Medical University, Luzhou, China. FAU - Long, Hanan AU - Long H AD - Department of Pathology, The Affiliated Hospital of Southwest Medical University, Luzhou, China. FAU - Liao, Dawei AU - Liao D AD - Department of Medical Imaging, The Affiliated Hospital of Southwest Medical University, Luzhou, China. FAU - Wang, Wenyuan AU - Wang W AD - Department of Medical Ultrasound, The Affiliated Hospital of Southwest Medical University, Luzhou, China. FAU - Xiao, Xiuli AU - Xiao X AD - Department of Pathology, The Affiliated Hospital of Southwest Medical University, Luzhou, China. LA - eng PT - Case Reports PT - Journal Article PT - Review PL - India TA - Indian J Pathol Microbiol JT - Indian journal of pathology & microbiology JID - 7605904 RN - 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors) RN - 0 (TFE3 protein, human) SB - IM MH - Humans MH - Female MH - *Carcinoma, Renal Cell/diagnosis/genetics MH - *Kidney Neoplasms/diagnosis/genetics/pathology MH - In Situ Hybridization, Fluorescence/methods MH - Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics/metabolism MH - Chromosomes, Human, X/genetics/chemistry/metabolism MH - Translocation, Genetic OTO - NOTNLM OT - FISH OT - TFE3 translocation RCC OT - pathological feature OT - renal cell carcinoma COIS- None EDAT- 2023/01/20 06:00 MHDA- 2023/01/24 06:00 CRDT- 2023/01/19 10:42 PHST- 2023/01/19 10:42 [entrez] PHST- 2023/01/20 06:00 [pubmed] PHST- 2023/01/24 06:00 [medline] AID - IndianJPatholMicrobiol_2023_66_1_135_367981 [pii] AID - 10.4103/ijpm.ijpm_755_21 [doi] PST - ppublish SO - Indian J Pathol Microbiol. 2023 Jan-Mar;66(1):135-140. doi: 10.4103/ijpm.ijpm_755_21.