Abstract
Background: Concomitant Wilms tumor (WT) and autosomal dominant
polycystic kidney disease (ADPKD) is exceedingly rare, presenting a
diagnostic and technical challenge to pediatric surgical oncologists.
The simultaneous workup and management of these disease processes is
incompletely described. Procedure: We performed a retrospective analysis
of patients treated at our institution with concomitant diagnoses of WT
and ADPKD. We also review the literature on the underlying biology and
management principles of these conditions. Results: We present three
diverse cases of concomitant unilateral WT and ADPKD who underwent
nephrectomy. One patient had preoperative imaging consistent with ADPKD
with confirmatory testing postoperatively, one was found to have
contralateral renal cysts intraoperatively with confirmatory imaging
post-nephrectomy, and one was diagnosed in childhood post-nephrectomy.
All patients are alive at last follow-up, and the patient with longest
follow-up has progressed to end-stage kidney failure requiring
transplantation and dialysis in adulthood. All patients underwent
germline testing and were found to have no cancer predisposition
syndrome or pathogenic or likely-pathogenic variants for WT. Conclusion:
Concomitant inheritance of ADPKD and development of WT is extremely
rare, and manifestations of ADPKD may not present until late childhood
or adulthood. ADPKD is not a known predisposing condition for WT. When
ADPKD diagnosis is made by family history, imaging, and/or genetic
testing before WT diagnosis and treatment, the need for extensive
preoperative characterization of cystic kidney lesions in children and
increased risk of post-nephrectomy kidney failure warrant further
discussion of surgical approach and peri-operative management
strategies.