Recent Advances in Renal Tumors with TSC/mTOR Pathway Abnormalities in Patients with Tuberous Sclerosis Complex and...

Area of Science:

• Oncology
• Genetics
• Pathology

Background:

• A range of renal tumors associated with tuberous sclerosis complex/mechanistic target of rapamycin (TSC/mTOR) pathway gene alterations have been recently identified.
• These alterations occur in both germline and sporadic settings.
• Recognized entities include renal cell carcinoma with fibromyomatous stroma (RCC FMS), eosinophilic solid and cystic renal cell carcinoma (ESC RCC), eosinophilic vacuolated tumor (EVT), and low-grade oncocytic tumor (LOT).

Purpose of the Study:

• To summarize recent advancements in understanding TSC/mTOR-associated renal tumors.
• To discuss the evolving complexity of these renal tumor entities.
• To highlight diagnostic features of these tumors.

Main Methods:

• Review of recent scientific literature and case reports.
• Analysis of morphologic and immunohistochemical features of described renal tumor entities.
• Discussion of the role of TSC/mTOR pathway alterations in renal tumorigenesis.

Main Results:

• Several distinct renal tumor entities are associated with TSC/mTOR pathway alterations.
• These tumors, including RCC FMS, ESC RCC, EVT, and LOT, often possess characteristic diagnostic features.
• Morphologic and immunohistochemical findings are typically sufficient for diagnosis, often obviating the need for molecular studies.

Conclusions:

• Recent advances have expanded the spectrum of recognized renal tumors linked to TSC/mTOR pathway alterations.
• The diagnostic landscape of these tumors is evolving, with distinct features aiding identification.
• Understanding these entities is crucial for accurate diagnosis and management in oncology.