{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,25]],"date-time":"2026-05-25T03:03:58Z","timestamp":1779678238380,"version":"3.53.1"},"reference-count":30,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2026,5,24]],"date-time":"2026-05-24T00:00:00Z","timestamp":1779580800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Pediatric gastrointestinal polyps are frequently associated with an underlying hereditary syndrome associated with multisystem manifestations and increased risk of early-onset cancer. Thus, the identification of polyps in a child should prompt evaluation with genetic testing to (1) characterize the syndrome to determine next clinical steps including surveillance recommendations, and (2) conduct cascade testing to identify affected family members. Given the considerations for pediatric genetic testing, including autonomy and psychosocial stressors associated with the early detection of a cancer risk syndrome, it is important to conduct targeted testing. Herein, we propose a stepwise approach to genetic testing in the pediatric patient with gastrointestinal polyps.<\/jats:p>","DOI":"10.3390\/genes17060601","type":"journal-article","created":{"date-parts":[[2026,5,25]],"date-time":"2026-05-25T02:32:28Z","timestamp":1779676348000},"page":"601","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Testing in Gastrointestinal Polyposis Syndromes: Considerations in Pediatrics"],"prefix":"10.3390","volume":"17","author":[{"given":"Suzanne P.","family":"MacFarland","sequence":"first","affiliation":[{"name":"Division of Oncology, Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"},{"name":"Division of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"Zelley","sequence":"additional","affiliation":[{"name":"Division of Oncology, Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Rojas","sequence":"additional","affiliation":[{"name":"University of Texas Southwestern Medical Center, Dallas, TX 75390, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol","family":"Durno","sequence":"additional","affiliation":[{"name":"Hospital for Sick Children, Toronto, ON M5G 1E8, Canada"},{"name":"The Zane Cohen Cetner, Mount Sinai Hospital, The University of Toronto, Toronto, ON M5G 1X5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,5,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"570","DOI":"10.5114\/aoms.2014.43750","article-title":"Juvenile polyposis syndrome","volume":"10","author":"Cichy","year":"2014","journal-title":"Arch. Med. Sci. AMS"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1097\/MPG.0000000000002246","article-title":"Management of Juvenile Polyposis Syndromes in Children and Adolescents: A Position Paper from the ESPGHAN Polyposis Working Group","volume":"38","author":"Cohen","year":"2019","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"e107","DOI":"10.1158\/1078-0432.CCR-17-0790","article-title":"Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood","volume":"23","author":"Achatz","year":"2017","journal-title":"Clin. Cancer Res."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1136\/jmg.2004.018598","article-title":"The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations","volume":"41","author":"Howe","year":"2004","journal-title":"J. Med. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1158\/1940-6207.CAPR-20-0348","article-title":"Phenotypic Differences in Juvenile Polyposis Syndrome With or Without a Disease-causing SMAD4\/BMPR1A Variant","volume":"14","author":"MacFarland","year":"2021","journal-title":"Cancer Prev. Res."},{"key":"ref_6","unstructured":"National Comprehensive Cancer Network (2025). Genetic\/Familial High-Risk Assessment: Colorectal. NCCN Clinical Practice Guidelines in Oncology, NCCN."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1016\/j.cgh.2010.05.010","article-title":"Juvenile polyps: Recurrence in patients with multiple and solitary polyps","volume":"8","author":"Fox","year":"2010","journal-title":"Clin. Gastroenterol. Hepatol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"e33","DOI":"10.1016\/j.jpedsurg.2012.09.067","article-title":"Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approach","volume":"48","author":"Oliveira","year":"2013","journal-title":"J. Pediatr. Surg."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1136\/gut.2009.198499","article-title":"Peutz-Jeghers syndrome: A systematic review and recommendations for management","volume":"59","author":"Beggs","year":"2010","journal-title":"Gut"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1111\/cge.14337","article-title":"Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome: A nationwide study","volume":"104","author":"Jelsig","year":"2023","journal-title":"Clin. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1097\/GIM.0b013e3181ac9aea","article-title":"PTEN hamartoma tumor syndrome: An overview","volume":"11","author":"Hobert","year":"2009","journal-title":"Genet. Med."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1833","DOI":"10.3748\/wjg.v20.i7.1833","article-title":"Colonic manifestations of PTEN hamartoma tumor syndrome: Case series and systematic review","volume":"20","author":"Stanich","year":"2014","journal-title":"World J. Gastroenterol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/j.gastha.2023.10.012","article-title":"A Bi-Institutional Study of Gastrointestinal and Hepatic Manifestations in Children With PTEN Hamartoma Tumor Syndrome","volume":"3","author":"Liu","year":"2024","journal-title":"Gastro Hep Adv."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1158\/1078-0432.CCR-24-1947","article-title":"Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex","volume":"31","author":"Schultz","year":"2025","journal-title":"Clin. Cancer Res."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1097\/MEG.0000000000000010","article-title":"Diagnosis, surveillance, and treatment strategies for familial adenomatous polyposis: Rationale and update","volume":"26","author":"Aihara","year":"2014","journal-title":"Eur. J. Gastroenterol. Hepatol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/1750-1172-4-22","article-title":"Familial adenomatous polyposis","volume":"4","author":"Half","year":"2009","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1002\/humu.1380030206","article-title":"Familial Adenomatous Polyposis (FAP): Frequency, penetrance, and mutation rate","volume":"3","author":"Bisgaard","year":"1994","journal-title":"Hum. Mutat."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"2779","DOI":"10.1200\/JCO.20.02636","article-title":"Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance","volume":"39","author":"Durno","year":"2021","journal-title":"J Clin. Oncol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1136\/jmedgenet-2020-107627","article-title":"Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): Recommendations from the international consensus working group","volume":"59","author":"Aronson","year":"2022","journal-title":"J. Med. Genet"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1097\/MPG.0000000000002247","article-title":"Management of Familial Adenomatous Polyposis in Children and Adolescents: Position Paper from the ESPGHAN Polyposis Working Group","volume":"68","author":"Hyer","year":"2019","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1053\/j.gastro.2012.06.001","article-title":"Guidelines for colonoscopy surveillance after screening and polypectomy: A consensus update by the US Multi-Society Task Force on Colorectal Cancer","volume":"143","author":"Lieberman","year":"2012","journal-title":"Gastroenterology"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"E39","DOI":"10.1055\/a-1958-2529","article-title":"Impact of changing diagnostic criteria on the diagnosis of serrated polyposis syndrome","volume":"11","author":"McWhinney","year":"2023","journal-title":"Endosc. Int. Open"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1111\/jgh.15791","article-title":"Germline variant testing in serrated polyposis syndrome","volume":"37","author":"Murphy","year":"2022","journal-title":"J. Gastroenterol. Hepatol."},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Bahmad, H.F., Trinh, S., Qian, L., Terp, K., Alloush, F., Elajami, M.K., Kilinc, E., and Poppiti, R. (2023). Colonic Ganglioneuroma: A Combined Single-Institution Experience and Review of the Literature of Forty-Three Patients. Diseases, 11.","DOI":"10.3390\/diseases11020069"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1097\/00000478-199403000-00004","article-title":"Ganglioneuromas of the gastrointestinal tract. Relation to von Recklinghausen disease and other multiple tumor syndromes","volume":"18","author":"Shekitka","year":"1994","journal-title":"Am. J. Surg. Pathol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1876","DOI":"10.1053\/j.gastro.2017.02.014","article-title":"Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance","volume":"152","author":"Lieberman","year":"2017","journal-title":"Gastroenterology"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1016\/j.cgh.2016.09.153","article-title":"Delineating the Phenotypic Spectrum of the NTHL1-Associated Polyposis","volume":"15","author":"Belhadj","year":"2017","journal-title":"Clin. Gastroenterol. Hepatol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1016\/j.pcl.2023.05.011","article-title":"Ethical Aspects of Pediatric Genetic Care: Testing and Treatment","volume":"70","author":"Ormond","year":"2023","journal-title":"Pediatr. Clin. N. Am."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1007\/s10897-013-9605-3","article-title":"What\u2019s the harm? Genetic counselor perceptions of adverse effects of genetics service provision by non-genetics professionals","volume":"23","author":"Bensend","year":"2014","journal-title":"J. Genet. Couns."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1038\/s41431-017-0086-y","article-title":"Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients","volume":"26","author":"Ciavarella","year":"2018","journal-title":"Eur. J. Hum. Genet."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/17\/6\/601\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,25]],"date-time":"2026-05-25T02:45:23Z","timestamp":1779677123000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/17\/6\/601"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,24]]},"references-count":30,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2026,6]]}},"alternative-id":["genes17060601"],"URL":"https:\/\/doi.org\/10.3390\/genes17060601","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,24]]}}}