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Clin Cancer Res. 2017 Jun 15;23(12):e76-e82. doi: 10.1158/1078-0432.CCR-17-0629.

PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.

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International Pleuropulmonary Blastoma Registry, Cancer and Blood Disorders, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota.
Department of Pediatrics, Baylor College of Medicine, Texas Children's Cancer Center, Texas Children's Hospital, Houston, Texas.
Boston Children's Hospital, Dana-Farber Cancer Institute, Boston, Massachusetts.
Cancer Genetics Clinic, Children's National Medical Center, Washington, DC.
Clinical Genetics Branch, National Cancer Institute, Bethesda, Maryland.
Division of Endocrinology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Child and Adolescent Cancer Department, Gustave Roussy Cancer Campus, Villejuif, France.
Division of Hematology/Oncology and Department of Genetic Counselling, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
Pediatric Cancer Genetic Risk Program, Dana-Farber Cancer Institute, Boston, Massachusetts.
Department of Oncology, Division of Cancer Predisposition, St. Jude Children's Research Hospital, Memphis, Tennessee.
Department of Human Genetics and Research Institute, McGill University Health Centre, McGill University, Montreal, Québec, Canada.


PTEN hamartoma tumor syndrome (PHTS), DICER1 syndrome, and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome are pleiotropic tumor predisposition syndromes that include benign and malignant neoplasms affecting adults and children. PHTS includes several disorders with shared and distinct clinical features. These are associated with elevated lifetime risk of breast, thyroid, endometrial, colorectal, and renal cancers as well as melanoma. Thyroid cancer represents the predominant cancer risk under age 20 years. DICER1 syndrome includes risk for pleuropulmonary blastoma, cystic nephroma, ovarian sex cord-stromal tumors, and multinodular goiter and thyroid carcinoma as well as brain tumors including pineoblastoma and pituitary blastoma. Individuals with HLRCC may develop multiple cutaneous and uterine leiomyomas, and they have an elevated risk of renal cell carcinoma. For each of these syndromes, a summary of the key syndromic features is provided, the underlying genetic events are discussed, and specific screening is recommended. Clin Cancer Res; 23(12); e76-e82. ©2017 AACRSee all articles in the online-only CCR Pediatric Oncology Series.

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