Recent Advances in Renal Tumors with TSC/mTOR Pathway Abnormalities in Patients with Tuberous Sclerosis Complex and in the Sporadic Setting
Abstract
:Simple Summary
Abstract
1. Introduction
2. Tuberous Sclerosis Complex Syndrome
3. Renal Tumors with TSC/mTOR Pathway Gene Alterations and Their Sporadic Counterparts
3.1. Angiomyolipoma and Variants
3.2. Renal Cell Carcinoma with Fibromyomatous Stroma (RCC FMS)
3.3. Eosinophilic Solid and Cystic Renal Cell Carcinoma (ESC RCC)
3.4. Eosinophilic Vacuolated Tumor (EVT)
3.5. Low-Grade Oncocytic Tumor (LOT)
4. Convergence on Mechanistic Target of Rapamycin (mTOR) Complex 1 Pathway
5. Clinical Management and Implications
6. TSC/MTOR Pathway Activated Renal Tumors—Lessons Learned and Future Directions
Author Contributions
Funding
Conflicts of Interest
References
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Type | Clinical Features | Morphology | Immunohistochemistry | Molecular Features |
---|---|---|---|---|
Renal cell carcinoma with fibromyomatous stroma (RCC FMS) | Mostly sporadic and solitary, indolent | Solid, smaller tumors, tan to brown, may have lobulated appearance, clear cells with voluminous cytoplasm forming nodules, separated, and encircled by fibromuscular stroma | CK7+ CAIX+ (membranous) CD10+ AMACR− | TSC/MTOR mutations |
Eosinophilic solid and cystic renal cell carcinoma (ESC RCC) | Mostly in females, largely sporadic and solitary, generally indolent | Solid and cystic, voluminous eosinophilic cells, cytoplasmic stippling | CK20+ CK7− CD117− Vimentin+ Cathepsin K+ (focal) | Somatic bi-allelic loss of function mutations in TSC1 and TSC2 |
Eosinophilic vacuolated tumor (EVT) | Broad age range, sporadic and solitary, rare cases in TSC patients, indolent | Solid, smaller tumors, tan to brown or gray, large vessels often at the periphery, eosinophilic cells with frequent and prominent intracytoplasmic vacuoles, large nucleoli | cathepsin K+ CD117+ CD10+ CK7− (only rare cells +) CK20− Vimentin− | TSC/MTOR pathway mutations (all cases), deletions of chromosome 19 and 1 (in cases with MTOR mutation) |
Low-grade oncocytic tumor (LOT) | Mostly in older patients, sporadic and solitary, rare cases in TSC patients, indolent | Solid, smaller tumors, tan to mahogany brown, sharp transition to edematous areas with scattered individual cells, round to oval nuclei without irregularities and prominent nucleoli, often perinuclear halos | CK7+ (diffuse) CD117− (rarely weak +) GATA3+ (limited data) FOXI1− CK20− Vimentin− | TSC/MTOR pathway mutations (almost all cases), lack of multiple chromosome losses, deletions of chromosome 19p, 19q, and 1p (in some cases), no CCND1 rearrangements |
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Kapur, P.; Brugarolas, J.; Trpkov, K. Recent Advances in Renal Tumors with TSC/mTOR Pathway Abnormalities in Patients with Tuberous Sclerosis Complex and in the Sporadic Setting. Cancers 2023, 15, 4043. https://doi.org/10.3390/cancers15164043
Kapur P, Brugarolas J, Trpkov K. Recent Advances in Renal Tumors with TSC/mTOR Pathway Abnormalities in Patients with Tuberous Sclerosis Complex and in the Sporadic Setting. Cancers. 2023; 15(16):4043. https://doi.org/10.3390/cancers15164043
Chicago/Turabian StyleKapur, Payal, James Brugarolas, and Kiril Trpkov. 2023. "Recent Advances in Renal Tumors with TSC/mTOR Pathway Abnormalities in Patients with Tuberous Sclerosis Complex and in the Sporadic Setting" Cancers 15, no. 16: 4043. https://doi.org/10.3390/cancers15164043