Pediatric Renal Angiomyolipomas in Tuberous Sclerosis Complex

Area of Science:

• Pediatric Nephrology
• Medical Genetics
• Oncology

Background:

• Tuberous sclerosis complex (TSC) is a genetic disorder causing hamartoma growth in multiple organs.
• Angiomyolipomas (AMLs) affect up to 80% of TSC patients, necessitating understanding of their natural history.

Purpose of the Study:

• To describe the incidence and natural history of renal angiomyolipomas in a pediatric TSC population.
• To analyze tumor growth patterns to optimize renal imaging intervals for improved patient management.

Main Methods:

• Retrospective chart review of TSC patients from 2004-2014.
• Inclusion criteria: clinical/genetic TSC diagnosis and at least one renal imaging study.

Main Results:

• 50.3% incidence of AMLs in 145 pediatric TSC patients (median age 14).
• Yearly growth rates varied by age and tumor size, with rapid, unpredictable growth observed.
• 35 patients received mTOR inhibitors; 8 underwent surgical intervention for AMLs.

Conclusions:

• Pediatric TSC patients exhibit rapid and unpredictable angiomyolipoma growth.
• Recommend annual renal ultrasound for all TSC patients.
• Consider MRI for those >11 years or with AMLs >2cm to assess risk for intervention.