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Concomitant Wilms Tumor and Autosomal Dominant Polycystic Kidney Disease
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  • Andrew Fleming,
  • Daniel B. Gehle,
  • Melissa R. Perrino,
  • Dylan Graetz,
  • John BIssler,
  • Elizabeth McCarville,
  • Matthew Krasin,
  • Rachel C. Brennan,
  • Jinghui Zhang,
  • Wentao Yang,
  • Yadav Sapkota,
  • Melissa Hudson,
  • Andrew Davidoff,
  • Daniel Green,
  • Andrew Murphy
Andrew Fleming
St Jude Children's Research Hospital
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Daniel B. Gehle
St Jude Children's Research Hospital
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Melissa R. Perrino
St Jude Children's Research Hospital Department of Oncology
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Dylan Graetz
St Jude Children's Research Hospital Department of Oncology
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John BIssler
St Jude Children's Research Hospital
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Elizabeth McCarville
St Jude Children's Research Hospital
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Matthew Krasin
St Jude Children's Research Hospital Department of Radiation Oncology
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Rachel C. Brennan
Logan Health
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Jinghui Zhang
St Jude Children's Research Hospital
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Wentao Yang
St Jude Children's Research Hospital
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Yadav Sapkota
St Jude Children's Research Hospital
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Melissa Hudson
St Jude Children's Research Hospital
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Andrew Davidoff
St Jude Children's Research Hospital
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Daniel Green
St Jude Children's Research Hospital Department of Oncology
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Andrew Murphy
St Jude Children's Research Hospital

Corresponding Author:[email protected]

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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.
10 May 2024Submitted to Pediatric Blood & Cancer
11 May 2024Submission Checks Completed
11 May 2024Assigned to Editor
18 May 2024Reviewer(s) Assigned