Published on in CHOP News
RL was born with colobomas causing visual impairment. Genetic testing did not determine a cause but cleared her of known related syndromes. As an infant she was discovered to be allergic to protein and experienced failure to thrive, necessitating care by cardiology, neurology, and gastroenterology. By age 2 her health improved.
At age 7, after complaining of stomach pain, RL was diagnosed at a New Jersey hospital with bilateral Wilms tumor. She began a planned 12-week course of chemotherapy to be followed by partial versus total nephrectomies. After 6 weeks of chemotherapy, however, the care team proposed performing the surgery at that point. Unsure of the best course, her family sought a second opinion at Children's Hospital of Philadelphia (CHOP), and the family decided to transfer her care to CHOP.
Pediatric oncologist Frank M. Balis, MD, and pediatric urologist Thomas F. Kolon, MD, recommended finishing the 12 weeks of chemotherapy prior to surgery to continue to shrink the tumors, which at diagnosis had measured 9 cm on the right side and 4 cm on the left side and were now responding to the chemotherapy.
Bilateral renal disease implies a predisposition syndrome that caused RL to develop two tumors independently of each other. Because coloboma can be linked to a specific genetic defect, RL was seen by CHOP’s Cancer Predisposition Program. Further genetic testing was performed but, as with her tests as an infant, no genetic cause was found that would link her visual condition with the cancer.
To save RL from undergoing two rounds of anesthesia, Kolon planned bilateral partial nephrectomies. This requires complete resection of the tumors from the kidneys with intraoperative negative margins to prevent recurrence while sparing healthy renal tissue. In partnership with the Department of Radiology, 3D models of RL’s kidneys were created so Kolon could visualize the condition of the tumors and their proximity to critical renal vascular supply and collecting system. This multispecialty collaboration of oncology, urology, and radiology is vital to increasing tumor-free survival while decreasing renal injury, thus optimizing each patient’s individualized care.
During the surgery, the first partial nephrectomy and renal reconstruction had no complications, allowing Kolon to continue and successfully perform the second contralateral partial nephrectomy and renorrhaphy under the same general anesthesia. After 7 days of recovery, RL was back in school. For the next 13 weeks, she underwent outpatient chemotherapy every 3 weeks at CHOP. A year later, RL is healthy, with Kolon and Balis deeming her risk of recurrence low, and her kidney function is normal.