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ASPHO October 2015 Case Quiz

Page 1 Questions

Infant female with an abdominal mass
Allison Grady, APNP, Children’s Hospital of Wisconsin, Milwaukee, WI
Rebecca Schreier, DO, Sanford Children’s Specialty Clinic, Sioux Falls, SD
Sam Milanovich, MD, Sanford Children’s Specialty Clinic, Sioux Falls, SD

An 8-month-old female is referred for evaluation of an abdominal mass. Imaging reveals a large tumor arising from the right kidney. Past medical history is unremarkable. There is no hemihypertrophy, hepatomegaly, or skin rash. Genitourinary exam is normal. Examination of eyes, ears, and mouth is normal. Family history is unremarkable; specifically, there is no history of cancer. The patient undergoes R nephrectomy and pathology confirms Wilms’ tumor. Cytogenetic analysis is remarkable for 46 XY karyotype without any loss of heterozygosity. The patient did not have evidence of metastatic disease and was diagnosed with stage II Wilms’ tumor. She went on to receive vincristine- and dactinomycin-based chemotherapy.

1. Which tumor predisposition syndrome is most likely in this case?