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Published on: February 8, 2020
Multicystic Clear Cell Renal Tumors With Low-grade Nuclear Features: Time to Include TFE3 Translocation-associated
Qi Cai1, Jeffrey Gagan1, Prasad Koduru1
1Departments of Pathology.
Abstract:
TFE3 -rearranged renal cell carcinoma (RCC) is a distinct, uncommon entity with more than 20 different fusion partners identified; however, histomorphology may be suggestive of specific fusion partners in select TFE3 -rearranged RCCs. For example, most MED15 :: TFE3 fusion associated RCCs exhibit multilocular cystic morphology, mimicking multilocular cystic renal neoplasm of low malignant potential. Here we present a case of MED15 :: TFE3 RCC in an older adult and review the literature with an emphasis on practical diagnostic approaches for predominantly cystic, low-grade, clear cell renal tumors.
Insights
TFE3-rearranged renal cell carcinoma (RCC) with MED15 fusion can mimic benign cystic tumors. This case highlights diagnostic challenges and approaches for these rare, predominantly cystic, low-grade clear cell renal tumors.
Area of Science:
- Uropathology
- Oncology
- Molecular Pathology
Background:
- TFE3-rearranged renal cell carcinoma (RCC) is a rare subtype of kidney cancer.
- Over 20 fusion partners for TFE3 have been identified, complicating diagnosis.
- Specific histomorphological features can suggest certain TFE3 fusions.
Observation:
- MED15::TFE3 fusion-associated RCCs often present with a multilocular cystic appearance.
- This morphology can be mistaken for multilocular cystic renal neoplasm of low malignant potential.
- The presented case involves an older adult with MED15::TFE3 RCC exhibiting these cystic features.
Findings:
- The study emphasizes the diagnostic overlap between MED15::TFE3 RCC and benign cystic renal neoplasms.
- Histomorphology, particularly multilocular cystic patterns, is a key diagnostic clue.
- Accurate identification relies on integrating morphology with molecular findings.
Implications:
- Recognizing the cystic variant of MED15::TFE3 RCC is crucial for appropriate patient management.
- This understanding aids pathologists in differentiating rare malignant entities from benign conditions.
- Improved diagnostic strategies can lead to better outcomes for patients with TFE3-rearranged RCC.
