AJSP2305 - CME/CMLE - Lessons from 801 clinical TFE3/TFEB fluorescence in situ hybridization assays performed on renal cell carcinoma suspicious for MiTF family aberrations-Lessons from 801 clinical TFE3/TFEB fluorescence in situ hybridization assays performed on renal cell carcinoma suspicious for MiTF family aberrations

Lessons from 801 clinical TFE3/TFEB fluorescence in situ hybridization assays performed on renal cell carcinoma suspicious for MiTF family aberrations

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The study reviewed 801 TFE3/TFEB fluorescence in situ hybridization (FISH) assays conducted from 2014 to 2023 on kidney tumors suspicious for MiTF family aberrations. The results revealed 14% of kidney tumors had TFE3 translocation, 2.7% had TFEB translocation, and 6.5% had TFEB amplification. Interestingly, TFEB amplification cases were more common in older patients compared to TFE3 or TFEB translocation cases. It was noted that TFE3 and TFEB rearrangements were never co-detected in the same kidney tumor, except for one case showing both TFE3 rearrangement and amplification. The study emphasized the importance of TFE3/TFEB FISH assays in confirming rare MiTF-RCC cases and subclassifying them definitively, even when morphological and biomarker features suggest MiTF-RCC. Notably, TFEB amplifications were found to be 3 times more frequent than TFEB translocations. The findings also highlighted the diverse morphologic spectrum of MiTF-RCC, including features like papillary, eosinophilic, and high-grade nested patterns in TFEB amplification cases. The study recommended the integration of FISH testing along with an integrative evaluation of histomorphologic and immunohistochemical features to accurately diagnose and categorize MiTF-RCC patients for targeted therapy-related clinical trials. The study's insights provide valuable information for pathologists in diagnosing and managing MiTF-RCC cases effectively.

Keywords

TFE3

TFEB

fluorescence in situ hybridization

FISH assays

kidney tumors

MiTF family aberrations

translocation

amplification

MiTF-RCC

integrative evaluation