| Abstract: |
We report two novel cases of Xp11 translocation renal cell carcinomas with the MED15::TFE3 gene fusion in adult females aged 40 and 74 years. Both cases were extensively cystic and contained only minimal clear cells lining cysts and within septal walls, raising the differential diagnosis of multilocular cystic renal neoplasm of low malignant potential. By immunohistochemistry, both neoplasms labeled for PAX8, TFE3, cathepsin K and Melan A but not for HMB45. On review of the published literature and the two cases reported herein, over 90% of MED15::TFE3 renal cell carcinomas (RCCs) have been described as cystic. The correlation of the MED15::TFE3 fusion with extensively cystic morphology represents the strongest association of TFE3 fusion partner with clinicopathological features among TFE3-rearranged RCC reported to date. © The Author(s) 2023. |
| Keywords: |
adult; gene translocation; genetics; case report; pathology; renal cell carcinoma; kidney neoplasms; kidney tumor; carcinoma, renal cell; x chromosome; chromosomes, human, x; translocation, genetic; cyst; cysts; tfe3; basic helix loop helix leucine zipper transcription factor; tfe3 protein, human; basic helix-loop-helix leucine zipper transcription factors; mediator complex; humans; human; female; renal neoplasm; med15: translocation; amtolmetin guacil; med15 protein, human
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