juvenile polyposis coli | gutsandgrowth

S Kurasawa et al. JPGN Reports. 2026; DOI: 10.1002/jpr3.70188. Open Access! Endoscopic ischemic polypectomy for small intestinal polyps in a 7-year-old girl with juvenile polyposis syndrome

Background: “Funayama et al.⁴ described the technique of endoscopic ischemic polypectomy (EIP) in detail in both pediatric and adult patients with Peutz–Jeghers syndrome (PJS). Subsequently, EIP was reported to be a safe and effective treatment for 269 small intestinal polyps in 22 pediatric PJS cases.⁵” Here the authors describe the use of this technique for a child with juvenile polyposis syndrome (JPS).

Key findings:

During a two-hour double-balloon enteroscopy (DBE) for a 7 yo child, “17 pedunculated polyps, all with a visually assessed size range of 7–15 mm, EIP was performed using the “crossed-clip strangulation method,” in which the first hemostatic clip was deployed with the aid of a distal attachment and rotated 90°, followed by placement of a second clip crossing the first at a 90° angle (Figure 1)…Subsequently, anemia and hypoalbuminemia did not recur, and growth was satisfied.”

(A) Pedunculated polyp in the small intestine. (B) The first hemostatic clip was placed on the stalk of the polyp. (C) A second hemostatic clip was placed on the stalk of the polyp at a 90-degree angle to the first clip.

Discussion Points:

“EIP does not involve electrocautery, eliminating the risk of thermal injury and offering a safer alternative for small bowel lesions.”
“A limitation of EIP is the inability to retrieve resected polyps…It should only be used for lesions that appear clearly benign.”
There is a risk of detached polyps migrating into the lower gastrointestinal tract and inducing intussusception. This can be mitigated by managing distal small intestinal polyps first.

My take: EIP appears to be useful for inidividuals with numerous small intestinal polyps.

Related blog posts:

Lack of Pediatric Polypectomy Guidelines
Cold vs Hot Polypectomy for Small Polyps
Genetic Risk Assessment and Testing for Gastrointestinal Cancers and Polyposis (2025)
How to Do a Colonoscopic Polypectomy & U.S. COVID-19 Tracker
How Benign Are Juvenile Polyps?
Adverse Events Following Pediatric Endoscopy -Previously Underestimated
ESPGHAN Juvenile Polyposis Position Paper While the polyps described are not tubular adenomatous polyps, it is noted that guidelines in adults recommend followup in 5-10 years for a single (non-serrated) adenomatous polyp (Polyps: Clinical Decision Tool).
Updated Guidelines on Genetic Testing/management for Hereditary GI Cancer Syndromes
Surprising Genetic Mutations in Polyposis Study
Polyposis in Pediatric Patients -Review
Consensus guidelines after polypectomy | gutsandgrowth)
Adenoma Detection Rate: Life or Death Quality Measure

S Cohen et al. J Pediatr Gastroenterol Nutr.2024;79:161‐167. Open Access! Juvenile polyposis syndrome in children: The impact of SMAD4 and BMPR1A mutations on clinical phenotype and polyp burden

One of the authors on this paper is Dr. Erdman (see yesterday’s post: Dr. Steve Erdman: Perplexing Polyposis Patients: a Case-Based Discussion).

Background/Methods: A constitutional disease‐causing variant (DCV) in the SMAD4 or BMPR1A genes is present in 40%–60% of patients with juvenile polyposis syndrome (JPS). A total of 124 children with JPS were included: 69 (56%) DCV‐negative and 55 (44%) DCV‐positive (53% SMAD4 and 47% BMPR1A) with a median (interquartile range) follow‐up of 4 (2.8–6.4) years

Key findings:

DCV‐positive children were diagnosed at an older age compared to DCV‐negative children [median 12 years vs. 5 years, respectively, p < 0.001], had a higher frequency of family history of polyposis syndromes (50.9% vs. 1.4%, p < 0.001), experienced a greater frequency of extraintestinal manifestations (27.3% vs. 5.8%, p < 0.001), and underwent more gastrointestinal surgeries (16.4% vs. 1.4%, p = 0.002). All operations in the DCV‐positive group were performed in patients with SMAD4 mutations
DCV-positive children had more frequent new polyps: average of 12.2 versus 2 new polyps for every year of follow‐up
DCV-positive children had a lower frequency of rectal bleeding (56% compared to 93%) which could be a factor in later presentation
There was no difference in the burden of polyps between patients with SMAD4 and BMPR1A mutations. A higher frequency of gastric polyps was observed in the SMAD4 group (55.3%vs. 9.1% for the patients in the BMPR1A group ,p = 0.004). . HHT was observed only in the SMAD4 mutations group (20.7% vs. 0 in the BMPR1Agroup. p = 0.024)

My take: Children with DCV-positive JPS likely require more frequent surveillance than DCV-negative JPS.

Related blog posts:

Review: Polyposis in Pediatrics
Surprising Genetic Mutations in Polyposis Study
What I Like About ESPGHAN Familial Adenomatous Polyposis Guidelines These recommendations, however, suggest starting screening at 12-14 years.
ESPGHAN Juvenile Polyposis Syndrome Recommendations These recommendations are different in that they do not recommend EGD in the pediatric age group: “Surveillance of the upper GI tract in affected or at-risk JPS patients is not required in childhood or teenage years, unless there is unexplained anaemia or upper GI symptoms.”
ESPGHAN Peutz-Jeghers syndrome Guidelines
Are You Familiar with CMMR-D? The term CMMR-D refers to constitutional mismatch repair deficiency. This occurs when an individual inherits two MMR gene defects (rather than one gene defect in Lynch syndrome); with CMMR-D screening recommendations include yearly endoscopic evaluation beginning at age 3 years or at diagnosis.
Updated Guidelines on Genetic Testing/management for Hereditary GI Cancer Syndromes

gutsandgrowth

Pediatric Gastroenterology

Tag Archives: juvenile polyposis coli

Endoscopic Ischemic Polypectomy for Polyposis Disorders

Impact of Gene Mutation on Juvenile Polyposis Syndrome