Gupta S, Lohse CM, Rowsey R, et al. - Contiguous gene deletion syndrome (CGS) screening should be performed in patients with polycystic kidney disease (PKD) and tuberous sclerosis complex (TSC)-associated renal neoplasia as well as in TSC patients with cystic renal disease, because detection of CGS not only can better define the manifestation and prognosis of CGS but also can guide counseling concerning patterns of inheritance.

• Using an institutional nephrectomy registry (years 2000–2020), the incidence of renal neoplasia was investigated among patients receiving nephrectomy for PKD.

• Of patients, 11.3% had renal neoplasia, and PKD cases with TSC-associated renal neoplasia underwent screening for PKD1/TSC2 CGS.

• Median tumor size was 2.0 cm, and tumors comprised 23 renal cell carcinomas (RCCs), one epithelioid angiomyolipoma, and four angiomyolipomas.

• A median follow-up of 59.5 mo (n = 26) was performed, and metastases occurred only in one patient with clear cell RCC.

• PKD1/TSC2 CGS was present in two patients with angiomyolipomas.