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Update on Pediatric Surveillance Recommendations for <i>PTEN</i> Hamartoma Tumor Syndrome, <i>DICER1-</i> Related Tumor Predisposition, and Tuberous Sclerosis Complex

Kris Ann P. Schultz, Suzanne P. MacFarland, Melissa R. Perrino, Sarah G. Mitchell, Junne Kamihara, Alexander T. Nelson, Paige Mallinger, Jack Brzezinski, Kara N. Maxwell, Emma R. Woodward, Bailey Gallinger, Sun Young Kim, Mary‐Louise C. Greer, Kami Wolfe Schneider, Sarah Scollon, Anirban Das, Jonathan D. Wasserman, Charis Eng, David Malkin, William D. Foulkes, Orli Michaeli, Andrew J. Bauer, Douglas R. Stewart

2024Clinical Cancer Research28 citationsDOIOpen Access PDF

Abstract

Phosphate and tensin homolog hamartoma tumor syndrome, DICER1-related tumor predisposition, and tuberous sclerosis complex are rare conditions, which each increases risk for distinct spectra of benign and malignant neoplasms throughout childhood and adulthood. Surveillance considerations for each of these conditions focus on patient and family education, early detection, and multidisciplinary care. In this article, we present updated surveillance recommendations and considerations for children and adolescents with phosphate and tensin homolog hamartoma tumor syndrome, DICER1-related tumor predisposition, and tuberous sclerosis complex and provide suggestions for further research in each of these conditions.

Topics & Concepts

PTENTuberous sclerosisMedicineMultidisciplinary approachHamartomaGenetic predispositionPediatricsOncologyPathologyPI3K/AKT/mTOR pathwayDiseaseGeneticsBiologySocial scienceSociologyApoptosisTuberous Sclerosis Complex ResearchMedical Imaging and Pathology StudiesTumors and Oncological Cases