Nokea
You receive a phone call from a community pediatrician who is caring for a 2-year-old toddler with a cancer predisposition syndrome. The pediatrician describes a child at the 95th percentile for height and weight with a history of corrective oral surgery to reduce a large tongue and a history of an omphalocele in infancy. The pediatrician is currently performing ultrasound of the abdomen and laboratory evaluation for this patient every 3 months. Which tumor is this patient most at risk of developing?
Correct Answer: D
Rationale: The correct answer is D: Nephroblastoma (Wilms tumor). This patient likely has Beckwith-Wiedemann syndrome given the features of overgrowth, macroglossia, and omphalocele. Beckwith-Wiedemann syndrome is associated with an increased risk of Wilms tumor. Wilms tumor is the most common renal malignancy in childhood. Monitoring for Wilms tumor with ultrasound and laboratory evaluations is appropriate due to the increased risk in this patient population.
Choice A: Pleuropulmonary blastoma is a rare lung tumor more commonly seen in children under 2 years old. It is not typically associated with Beckwith-Wiedemann syndrome.
Choice B: Hepatocellular carcinoma is a primary liver cancer more commonly seen in adults, not children with Beckwith-Wiedemann syndrome.
Choice C: Cystic nephroma is a benign kidney tumor typically seen in young children, but it is not associated with Beckwith-Wiedemann syndrome nor is it malignant