A 55-year-old man with a 10 cm right renal mass undergoes radical nephrectomy. Pathology reveals renal angiomyolipoma (AML) with epithelioid features and perivascular epithelioid cell (PEComa) characteristics. This variant is associated with which genetic syndrome?

• A Tuberous sclerosis complex (TSC) ✓
• B Von Hippel-Lindau (VHL) syndrome
• C Hereditary papillary renal cell carcinoma (HPRC)
• D Birt-Hogg-Dubé syndrome

Explanation

Renal angiomyolipoma (AML), particularly the epithelioid variant, is strongly associated with tuberous sclerosis complex (TSC) caused by germline mutations in TSC1 or TSC2 genes, leading to mTOR pathway overactivation. In sporadic AML, TSC2 somatic mutations are also found. Epithelioid AML has malignant potential (10–30% metastatic risk). mTOR inhibitors (everolimus, sirolimus) are used to treat symptomatic or growing AML in TSC patients >3 cm. VHL syndrome is associated with clear cell RCC, hemangioblastoma, and pheochromocytoma; HPRC with papillary type 1 RCC; Birt-Hogg-Dubé with chromophobe RCC and oncocytoma.

Reference: Bailey & Love's Short Practice of Surgery, 27th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.