Julia A Baran1, Steven D Tsai2, Amber Isaza1, Garrett M Brodeur3,4, Suzanne P MacFarland3,4, Kristin Zelley3,4, Denise M Adams5, Aime T Franco1, Andrew J Bauer1,4. 1. Division of Endocrinology and Diabetes, The Thyroid Center, Children's Hospital of Philadelphia, The University of Pennsylvania, Philadelphia, Pennsylvania, USA. 2. Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA. 3. Division of Oncology, Children's Hospital of Philadelphia, The University of Pennsylvania, Philadelphia, Pennsylvania, USA. 4. Cancer Predisposition Program, Children's Hospital of Philadelphia, The University of Pennsylvania, Philadelphia, Pennsylvania, USA. 5. Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, The University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Abstract
INTRODUCTION: Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) comprises a collection of clinical features characterized by constitutional variants in PTEN. Several guidelines recommend thyroid screening, beginning at the pediatric age at the time of PHTS diagnosis; however, the benefits of early surveillance has not been well defined. METHODS: We conducted a retrospective investigation of patients followed up at the Children's Hospital of Philadelphia with a diagnosis of PHTS between January 2003 and June 2019. In total, 81 patients younger than 19 years were identified. RESULTS: The most common clinical feature at presentation was macrocephaly (85.1%), followed by impaired development (42.0%), skin/oral lesions (30.9%), and autism spectrum disorder (27.2%). A total of 58 of 81 patients underwent thyroid surveillance, with 30 patients (51.7%) found to have a nodule(s). Ultimately, 16 patients underwent thyroidectomy, with 7.4% (6/81) diagnosed with thyroid cancer. All thyroid cancer patients were older than 10 years at diagnosis, and all displayed low-invasive behavior. Of the patients younger than 10 years at the time of thyroid ultrasound (US) surveillance, 71.4% (15/21) had a normal US. The remaining 6 patients had thyroid nodules, including 4 undergoing thyroid surgery with benign histology. DISCUSSION/ CONCLUSION: Patients with macrocephaly, impaired cognitive development and thyroid nodules, and/or early-onset gastrointestinal polyps should undergo constitutional testing for PHTS. There does not appear to be a clinical advantage to initiating thyroid US surveillance before 10 years of age. In PHTS patients with a normal physical examination, thyroid US surveillance can be delayed until 10 years of age.
INTRODUCTION: Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) comprises a collection of clinical features characterized by constitutional variants in PTEN. Several guidelines recommend thyroid screening, beginning at the pediatric age at the time of PHTS diagnosis; however, the benefits of early surveillance has not been well defined. METHODS: We conducted a retrospective investigation of patients followed up at the Children's Hospital of Philadelphia with a diagnosis of PHTS between January 2003 and June 2019. In total, 81 patients younger than 19 years were identified. RESULTS: The most common clinical feature at presentation was macrocephaly (85.1%), followed by impaired development (42.0%), skin/oral lesions (30.9%), and autism spectrum disorder (27.2%). A total of 58 of 81 patients underwent thyroid surveillance, with 30 patients (51.7%) found to have a nodule(s). Ultimately, 16 patients underwent thyroidectomy, with 7.4% (6/81) diagnosed with thyroid cancer. All thyroid cancer patients were older than 10 years at diagnosis, and all displayed low-invasive behavior. Of the patients younger than 10 years at the time of thyroid ultrasound (US) surveillance, 71.4% (15/21) had a normal US. The remaining 6 patients had thyroid nodules, including 4 undergoing thyroid surgery with benign histology. DISCUSSION/ CONCLUSION: Patients with macrocephaly, impaired cognitive development and thyroid nodules, and/or early-onset gastrointestinal polyps should undergo constitutional testing for PHTS. There does not appear to be a clinical advantage to initiating thyroid US surveillance before 10 years of age. In PHTS patients with a normal physical examination, thyroid US surveillance can be delayed until 10 years of age.
Authors: R Michael Tuttle; Douglas W Ball; David Byrd; Raza A Dilawari; Gerard M Doherty; Quan-Yang Duh; Hormoz Ehya; William B Farrar; Robert I Haddad; Fouad Kandeel; Richard T Kloos; Peter Kopp; Dominick M Lamonica; Thom R Loree; William M Lydiatt; Judith C McCaffrey; John A Olson; Lee Parks; John A Ridge; Jatin P Shah; Steven I Sherman; Cord Sturgeon; Steven G Waguespack; Thomas N Wang; Lori J Wirth Journal: J Natl Compr Canc Netw Date: 2010-11 Impact factor: 11.908
Authors: Gary L Francis; Steven G Waguespack; Andrew J Bauer; Peter Angelos; Salvatore Benvenga; Janete M Cerutti; Catherine A Dinauer; Jill Hamilton; Ian D Hay; Markus Luster; Marguerite T Parisi; Marianna Rachmiel; Geoffrey B Thompson; Shunichi Yamashita Journal: Thyroid Date: 2015-07 Impact factor: 6.568
Authors: Min-Han Tan; Jessica L Mester; Joanne Ngeow; Lisa A Rybicki; Mohammed S Orloff; Charis Eng Journal: Clin Cancer Res Date: 2012-01-15 Impact factor: 12.531