Review

. 2025 Jan 17;31(2):234-244.

doi: 10.1158/1078-0432.CCR-24-1947.

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

Kris Ann P Schultz¹, Suzanne P MacFarland², Melissa R Perrino³, Sarah G Mitchell⁴, Junne Kamihara⁵, Alexander T Nelson^{1

6}, Paige H R Mallinger¹, Jack J Brzezinski⁷, Kara N Maxwell^{8

9}, Emma R Woodward^{10

11}, Bailey Gallinger^{12

13}, Sun Young Kim¹⁴, Mary-Louise C Greer^{15

16}, Kami Wolfe Schneider¹⁷, Sarah R Scollon¹⁸, Anirban Das¹⁹, Jonathan D Wasserman²⁰, Charis Eng²¹, David Malkin¹⁹, William D Foulkes²², Orli Michaeli^#²³, Andrew J Bauer^#²⁴, Douglas R Stewart^#²⁵

Affiliations

¹ International Pleuropulmonary Blastoma/DICER1 Registry, Cancer and Blood Disorders, Children's Minnesota, Minneapolis, Minnesota.
² Division of Oncology, The Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
³ Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee.
⁴ Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, Georgia.
⁵ Department of Pediatric Oncology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, Massachusetts.
⁶ Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts.
⁷ Division of Haematology and Oncology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
⁸ Division of Hematology and Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
⁹ Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
¹⁰ Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.
¹¹ Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, United Kingdom.
¹² Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
¹³ Department of Molecular Genetics, The University of Toronto, Toronto, Ontario, Canada.
¹⁴ Division of Human Genetics, Cincinnati Children's Hospital Medical Center, College of Medicine, University of Cincinnati, Cincinnati, Ohio.
¹⁵ Department of Diagnostic and Interventional Radiology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
¹⁶ Department of Medical Imaging, University of Toronto, Toronto, Ontario, Canada.
¹⁷ Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, Colorado.
¹⁸ Department of Pediatrics, Texas Children's Cancer and Hematology Center, Baylor College of Medicine, Houston, Texas.
¹⁹ Division of Haematology and Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
²⁰ Division of Endocrinology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
²¹ Genomic Medicine Institute, Lerner Research Institute, and Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio.
²² Department of Human Genetics, McGill University, Montréal, Quebec, Canada.
²³ Division of Hematology and Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
²⁴ Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
²⁵ Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Rockville, Maryland.

^# Contributed equally.

PMID: 39540884
PMCID: PMC11747828
DOI: 10.1158/1078-0432.CCR-24-1947

Review

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

Kris Ann P Schultz et al. Clin Cancer Res. 2025.

. 2025 Jan 17;31(2):234-244.

doi: 10.1158/1078-0432.CCR-24-1947.

Authors

Affiliations

¹ International Pleuropulmonary Blastoma/DICER1 Registry, Cancer and Blood Disorders, Children's Minnesota, Minneapolis, Minnesota.
² Division of Oncology, The Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
³ Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee.
⁴ Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, Georgia.
⁵ Department of Pediatric Oncology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, Massachusetts.
⁶ Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts.
⁷ Division of Haematology and Oncology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
⁸ Division of Hematology and Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
⁹ Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
¹⁰ Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.
¹¹ Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, United Kingdom.
¹² Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
¹³ Department of Molecular Genetics, The University of Toronto, Toronto, Ontario, Canada.
¹⁴ Division of Human Genetics, Cincinnati Children's Hospital Medical Center, College of Medicine, University of Cincinnati, Cincinnati, Ohio.
¹⁵ Department of Diagnostic and Interventional Radiology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
¹⁶ Department of Medical Imaging, University of Toronto, Toronto, Ontario, Canada.
¹⁷ Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, Colorado.
¹⁸ Department of Pediatrics, Texas Children's Cancer and Hematology Center, Baylor College of Medicine, Houston, Texas.
¹⁹ Division of Haematology and Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
²⁰ Division of Endocrinology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
²¹ Genomic Medicine Institute, Lerner Research Institute, and Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio.
²² Department of Human Genetics, McGill University, Montréal, Quebec, Canada.
²³ Division of Hematology and Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
²⁴ Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
²⁵ Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Rockville, Maryland.

^# Contributed equally.

PMID: 39540884
PMCID: PMC11747828
DOI: 10.1158/1078-0432.CCR-24-1947

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.

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Conflict of interest statement

Conflicts of interest: D.R. Stewart provides telegenetics services for Genome Medical, Inc, in accordance with relevant National Cancer Institute policies. M.C. Greer holds an investigator-initiated research grant from AbbVie and is a research consultant for Alimentiv. A.J. Bauer provides consultation to IBSA Pharma and Egetis Pharmaceuticals/Rare Thyroid Therapeutics. The remaining authors have no conflicts to disclose.

References

1. Eng C, PTEN: one gene, many syndromes. Hum Mutat, 2003. 22(3): p. 183–98. - PubMed
1. Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, and Swisher E, Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst, 2013. 105(21): p. 1607–16. - PubMed
1. Innella G, Bonora E, Neri I, Virdi A, Guglielmo A, Pradella LM, et al. , PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis. Front Med (Lausanne), 2021. 8: p. 688105. - PMC - PubMed
1. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines): Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. (Version 3.2024). in National Comprehensive Cancer Network, Inc. 2024. All rights reserved.

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

Affiliations

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

Authors

Affiliations

Abstract

Conflict of interest statement

References

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Grants and funding

LinkOut - more resources

Full Text Sources

Medical

Research Materials