Paeds · gastroenterology-hepatology-and-nutrition
Polyps and inherited gastrointestinal cancer syndromes
Also known as Juvenile polyposis syndrome · Familial adenomatous polyposis · Peutz-Jeghers syndrome · Inherited polyposis · Hamartomatous polyposis · MUTYH-associated polyposis · PTEN hamartoma tumour syndrome
Fellowship guide to gastrointestinal polyps in children: distinguishing the benign isolated juvenile polyp from the inherited cancer syndromes juvenile polyposis, familial adenomatous polyposis, Peutz-Jeghers syndrome and MUTYH-associated polyposis, with the genes, histology, cancer risks, red-flag cutaneous clues, and the surveillance and prophylactic surgery that prevent early colorectal and extraintestinal cancer.
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Target exams
Red flags
- Three or more juvenile polyps, any juvenile polyp outside the colon, or a family history of juvenile polyposis
- Hundreds to thousands of colonic adenomas on colonoscopy
- Mucocutaneous pigmentation of the lips, buccal mucosa or digits with small-bowel polyps or intussusception
- Macrocephaly with gastrointestinal hamartomas or developmental features
- A family history of early colorectal, gastric, pancreatic, breast, or gynaecological cancer
- Desmoid tumour, hepatoblastoma, or feminising testicular tumour in a child
- Acute small-bowel obstruction or intussusception in a child with known polyposis
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- Distinguishes an isolated benign juvenile polyp from inherited polyposis syndromes
- Takes and interprets a three-generation family cancer history
- Recognises the cutaneous and extraintestinal clues to Peutz-Jeghers and FAP
- Selects and times syndrome-specific endoscopic surveillance and prophylactic surgery
- Interprets germline genetic testing and arranges predictive testing of relatives
- Anticipates desmoid tumour risk and the adenoma-to-carcinoma progression in FAP
- Defines juvenile polyposis, FAP, Peutz-Jeghers and MUTYH-associated polyposis by histology and genetics
- Outlines age-based surveillance and surgical options for inherited polyposis
- Explains cancer risk and inheritance to families and refers to a familial cancer service
- Communicates a complex genetic diagnosis and lifetime cancer risk to an adolescent and family
- Counsels on prophylactic colectomy weighing cancer prevention against desmoid risk and quality of life
- Coordinates transition from paediatric to adult familial cancer care
- Stage 1: Recognition of childhood polyps and familial cancer patterns
- Stage 2: Histological classification and germline genetic diagnosis
- Level 3: Multidisciplinary surveillance, prophylactic surgery, and transition
- Genes, inheritance, and cancer risk of JPS, FAP, PJS, and MAP
- Diagnostic criteria for juvenile polyposis and the definition of attenuated FAP
- Surveillance and surgical management of inherited polyposis syndromes
- Examination for mucocutaneous pigmentation, macrocephaly, and dysmorphic features
- History-taking and pedigree construction in a suspected familial cancer syndrome
- Counselling an adolescent about prophylactic colectomy and genetic testing
- NASPGHAN and ESPGHAN approach to childhood polyposis
- Histological classification of paediatric polyps and syndrome criteria
- Genetic testing, surveillance, and referral pathways for inherited polyposis
- Recognition of inherited polyposis syndromes and their cancer risk
- Family-history-driven referral and genetic counselling
- Coordinated multidisciplinary surveillance and transition planning
- Canadian familial cancer approach to paediatric polyposis
- Integration of genetics, gastroenterology, and surgery across the lifespan
- Equitable access to surveillance and genetic services for diverse populations
Overview & Definition
A four-year-old who passes a few drops of bright red blood with an otherwise normal stool, a teenager whose father had a colectomy for hundreds of colon polyps, and a boy with dark freckles on his lips and recurrent belly pain are very different presentations that all turn on the same question: is this child's bowel growth a harmless one-off, or the first sign of a cancer syndrome that runs through the family? Gastrointestinal polyps are abnormal outgrowths of the bowel lining into the lumen, and in children they span a spectrum from the common, benign isolated juvenile polyp to rare inherited syndromes that carry a high lifetime risk of cancer. [7]
The single most useful division is histological. Hamartomatous polyps are disorganised overgrowths of the tissue that normally belongs there, mucus-filled and lobulated, and an isolated juvenile polyp of this kind is benign. Adenomatous polyps are true neoplasms in which the glandular epithelium has begun to proliferate and accumulate genetic damage, placing them on the adenoma-to-carcinoma pathway that produces colorectal cancer. The inherited syndromes cluster around these two histologies: juvenile polyposis syndrome and Peutz-Jeghers syndrome are hamartomatous, while familial adenomatous polyposis and MUTYH-associated polyposis are adenomatous. [7]
What makes these syndromes dangerous, and what makes them examinable, is that the polyps are only the visible tip of an inherited defect that touches many organs and raises cancer risk across a lifetime. The clinician's job is to recognise when a child's polyp is not an isolated event, to confirm the syndrome with histology and germline genetics, and to enrol the child and family in structured, lifelong surveillance that prevents cancer. [9]
References10ShowHide
- [1]Cohen S, Hyer W, Mas E, Auth M, Attard TM, Spalinger J, Latchford A, Durno C Management of Juvenile Polyposis Syndrome in Children and Adolescents: A Position Paper From the ESPGHAN Polyposis Working Group. J Pediatr Gastroenterol Nutr, 2019.PMID 30585890
- [2]Hyer W, Cohen S, Attard T, Vila-Miravet V, Pienar C, Auth M, Septer S, Hawkins J, Durno C, Latchford A Management of Familial Adenomatous Polyposis in Children and Adolescents: Position Paper From the ESPGHAN Polyposis Working Group. J Pediatr Gastroenterol Nutr, 2019.PMID 30585891
- [3]Latchford A, Cohen S, Auth M, Scaillon M, Viala J, Daniels R, Talbotec C, Attard T, Durno C, Hyer W Management of Peutz-Jeghers Syndrome in Children and Adolescents: A Position Paper From the ESPGHAN Polyposis Working Group. J Pediatr Gastroenterol Nutr, 2019.PMID 30585892
- [4]Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut, 2010.PMID 20581245
- [5]Blatter R, Tschupp B, Aretz S, et al. Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers. Genet Med, 2020.PMID 32398773
- [6]Hinds R, Philp C, Hyer W, Fell JM Complications of childhood Peutz-Jeghers syndrome: implications for pediatric screening. J Pediatr Gastroenterol Nutr, 2004.PMID 15269641
- [7]Durno CA Colonic polyps in children and adolescents. Can J Gastroenterol, 2007.PMID 17431512
- [8]Zaffaroni G, Mannucci A, Koskenvuo L, de Lacy B, Maffioli A, Bisseling T Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision. Br J Surg, 2024.PMID 38722804
- [9]MacFarland SP, Zelley K, Rojas I, Durno C Genetic Testing in Gastrointestinal Polyposis Syndromes: Considerations in Pediatrics. Genes (Basel), 2026.PMID 42353760
- [10]Wang MX, Shi A, Shetty D, Mousa M, Diab M, Taher A Cowden Syndrome: Imaging Review and Cancer Surveillance. Radiographics, 2026.PMID 41746821