A recent review article (SP MacFarland et al. JPGN 2019; 69: 273-80) provides clearcut guidelines on polyposis syndromes in pediatric patients.
Table 1 lists the syndrome, the mutated gene (s), and recommended screening (onset & interval). The article and table provide more nuance/guidance but the basic recommendations are noted as follows:
- For Familial Adenomatous Polyposis (FAP), the authors recommend onset of colonoscopy at 10 years and with 1 year intervals. “Colectomy recommended by 20 to 25 years.” EGD is recommended at 18 to 20 years. Thyroid ultrasound is recommended at 18 years. Alpha-fetoprotein levels to check for hepatoblastoma are recommneded every 3-6 months in infancy up to 5 years of age.
- For Juvenile Polyposis Syndrome, EGD and Colonoscopy are recommended at 15 years with interval evaluations at 1-3 years.
- For Peutz-Jeghers syndrome, EGD and Colonoscopy are recommended at 8 to 10 years (along with small bowel evaluation with either MRE or video capsule). Interval followup is recommended every 2-3 years.
Table 2 provides suggestions for familial screening in pediatric polyposis syndromes.
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Management of Peutz-Jeghers Syndrome in Children and Adolescents: A Position Paper by the ESPGHAN Polyposis Working Group; Link:JPGN 2019; 68 (3): 442-452
This position paper serves as a good review and makes clear recommendations for evaluation and management.
In a single individual, a clinical diagnosis of PJS may be made when any one of the following is present:
1. Two or more histologically confirmed PJS polyps
2. Any number of PJS polyps detected in 1 individual who has a family history of PJS in close relative(s)
3. Characteristic mucocutaneous pigmentation in an individual who has a family history of PJS in close relative(s)
4. Any number of PJS polyps in an individual who also has characteristic mucocutaneous pigmentation.
SUMMARY OF RECOMMENDATIONS
- Recommendation 1 Predictive genetic testing for an asymptomatic at risk child should be offered from the age of 3 years and should be performed earlier in a symptomatic at-risk child. (moderate recommendation, low-quality evidence, agreement 90%)
- Recommendation 2 Lip and mucosal freckling is not diagnostic of PJS alone. Patients with lip and mucosal freckling suggestive of PJS should be referred to a geneticist for diagnostic genetic testing. Investigation of the GI tract is recommended to start no later than age 8 unless symptoms arise earlier. (weak recommendation, low-quality evidence, agreement 100%)
- Recommendation 3 GI surveillance by upper GI endoscopy, colonoscopy, and VCE should commence no later than 8 years in an asymptomatic individual with PJS, and earlier if symptomatic…and generally be repeated every 3 years. Earlier investigation of the GI tract should be performed in symptomatic patients. (moderate recommendation, low-quality evidence, agreement 90%)
- Recommendation 4 Patients with symptomatic intussusception should be urgently referred for surgical reduction. There is no role for radiological or endoscopic reduction of intussusception in a symptomatic child with intestinal obstruction from a PJS polyp. At laparotomy, patients should ideally undergo an intraoperative enteroscopy to clear the small bowel of other PJS polyps. (strong recommendation, low-quality evidence, agreement 100%)
- Recommendation 5 Elective polypectomy should be performed to prevent
polyp-related complications. Small bowel polyps >1.5 to 2 cm in size (or smaller if symptomatic) should be electively removed to prevent intussusception. Endoscopic, surgical, and combined approaches all have their merit and the choice of modality should be made on a case by case basis (weak recommendation, low-quality evidence, agreement 100%)
- Recommendation 6 LCCSCTs [Large-cell calcifying Sertoli cell tumours of the testes] leading to feminizing manifestations including gynaecomastia are associated with the PJS and males should be assessed for this at clinical assessment.
- Recommendation 7 There is no role for pharmacological agents as a treatment or for chemoprevention in PJS. (strong recommendation, low-quality evidence, agreement 100%)
- Recommendation 8 Cancer in children with PJS is an extremely rare event. Children and adolescents should be routinely clinically examined for features of sex cord tumours
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Disclaimer: These blog posts are for educational purposes only. Specific dosing of medications (along with potential adverse effects) should be confirmed by prescribing physician. This content is not a substitute for medical advice, diagnosis or treatment provided by a qualified healthcare provider. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a condition.
These images (S Sengupta, S Bose. NEJM 2019; 380: 472) show hyperpigmented macules on the lips, oral mucosa and nose in the first frame, a target sign on CT scan indicative of intussception, and a jejunal resection with polyps that triggered the intussception. Related blog post: Update for Peutz-Jegher Syndrome
Here’s a link to abstract: Updated Guidelines on Genetic Testing/Management for Hereditary GI Cancer Syndromes (The American Journal of Gastroenterology 110, 223-262 (February 2015) | doi:10.1038/ajg.2014.435). This ACG guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz–Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer.
I glanced at the guideline –it is about 40 pages in length. It provides a lot of in-depth information on these infrequent disorders.
Some online resources for similar information: