Loubert F, House AA, Larochelle C, Major P, Keezer MR. Development and internal validation of a clinical risk score to predict incident renal and pulmonary tumors in people with tuberous sclerosis complex. J Med Genet. 2024;0:1-7. doi:10.1136/jmg-2023-109717
- This study is the first to leverage TSC Natural History Database data to develop and validate a clinical risk score to predict chances of renal angiomyolipoma and pulmonary LAM from development from early-onset symptoms in people with TSC. The findings of this study serve as an important first step towards identifying earlier, personalized medicine to reduce severe tumor growth in adulthood.
Mowrey K, Northrup H, Rougeau P, Hashmi SS, Krueger DA, Ebrahimi-Fakhari D, Towbin AJ, Trout AT, Capal JK, Franz DN, Rodriguez-Buritica D. Frequency, progression, and current management: Report of 16 new cases of nonfunctional pancreatic neuroendocrine tumors in tuberous sclerosis complex and comparison with previous reports. Frontiers in Neurology. 2021;(12):1-11. doi:3389/fneur.2021.627672
- This paper reports that nonfunctional PNETs occurred at younger ages in the TSC cases reviewed and more commonly compared to previous reports. Also, PNETs in patients treated with systemic mTOR inhibitors had lower rates of growth.