Juvenile polyposis syndrome affecting the stomach: A case report
© Kelly et al; licensee BioMed Central Ltd. 2008
Received: 13 October 2007
Accepted: 30 September 2008
Published: 30 September 2008
Juvenile polyposis syndrome(JPS) is a rare autosomal dominant inherited condition. Hamartomatous polyps can affect the entire gastrointestinal tract but usually predominate in the colon. In this case report we present an unusual case of JPS that presented with massive gastric polyposis requiring a total gastrectomy.
A 51-year-old man presented with symptoms of gastric outlet obstruction and upper gastrointestinal bleeding. Gastroscopy showed massive gastric polyposis with a large antral polyp that had prolapsed through the pylorus causing gastric outlet obstruction. Initially endoscopic polypectomy was performed, but due to progressive symptoms a total gastrectomy was then performed. Histology confirmed massive gastric juvenile polyposis.
Massive gastric polyposis is an uncommon manifestation of juvenile polyposis syndrome. This case illustrates important principles in managing this condition.
Juvenile polyposis syndrome (JPS) is a rare autosomal dominant inherited condition. These juvenile polyps can occur anywhere in the gastrointestinal tract but usually predominate in the colon. We report an unusual case of massive gastric polyposis occurring in a patient with juvenile polyposis syndrome. Due to the severity of the disease he required total gastrectomy.
A 51-year-old man with known juvenile polyposis syndrome had been in a gastrointestinal polyposis screening program which had starting twenty years earlier when he was initially diagnosed with gastric and colonic juvenile polyps. Two years ago he required a laparotomy and small bowel resection for a large intussuscepting jejunal juvenile polyp causing obstruction.
Clinically there were no extraintestinal manifestations of hamartomatous polyposis syndromes. There was a strong family history of gastrointestinal malignancy. The patient had two brothers both of whom were diagnosed with colon cancer in their fifties. The patient had two children in their twenties, both of whom had colonic juvenile polyps and one had had surgery for colonic cancer.
Genetic mutational analysis of the BMPR1A and SMAD4 genes was not performed.
Juvenile polyposis syndrome is a rare autosomal dominant inherited condition. It is characterised by the presence of juvenile polyps that can occur in the stomach or small and large intestine. Histologically juvenile polyps are hamartomas that have normal epithelium with a dense stroma, an inflammatory infiltrate, and a smooth surface with dilated, mucus-filled cystic glands in the lamina propria.
Juvenile polyposis syndrome can be diagnosed if any one of the following criteria is met (Jass criteria) .
More than five juvenile polyps in the colorectum OR
Multiple juvenile polyps throughout the gastrointestinal tract OR
Any number of juvenile polyps and a family history of juvenile polyps
The diagnosis of juvenile polyposis syndrome can be made in this case as there was evidence of multiple juvenile polyps throughout the gastrointestinal tract and there was also a family history of juvenile polyps.
On searching the literature, the prevalence of massive gastric polyposis in patients with juvenile polyposis syndrome has never been reported but we believe it is likely to be low.
Mutations in two different genes (BMPR1A and SMAD4) are known to cause juvenile polyposis syndrome in 20% of cases each . Genotypic and phenotypic correlations have generally been poor with these gene mutations but a recent report has shown a strong correlation between massive gastric polyposis and the presence of a SMAD4 gene mutation versus the BMPR1A or no mutation . Although the patient in this case did not have genetic analysis performed, we postulate that he may be more likely to have a gene mutation in the SMAD4 gene.
Although most juvenile polyps are benign, malignant transformation can occur. This has been estimated to occur in 9 to 50% of cases with juvenile polyposis syndrome . Most of the malignant transformation occurs as colorectal cancer but can occur as gastric or small bowel cancer.
Individuals with a proven SMAD4/BMPR1A mutation, or a clinical diagnosis of JPS by the Jass criteria, should receive education and screening to reduce the risk of malignancy. Recommended screening involves colonoscopy and gastroscopy starting at 15 years of age and repeated every three years . All polyps should be removed and when the polyp burden becomes large surgical resection should be performed. Approximately 75% of patients with JPS have an affected parent. Therefore 25% of cases are due to de novo mutations. If an individual with JPS is found to have a mutation then the other family members can be offered genetic testing around the age of 15 years. Family members at risk of JPS but with no identified mutation should have colonoscopic screening starting at 15 years of age and repeated every ten years.
Massive gastric polyposis secondary to juvenile polyposis syndrome is a rare condition. This case report illustrates the importance of making the diagnosis of juvenile polyposis syndrome and entering the patient into a screening program. People with gastric polyposis should be treated initially with endoscopic polypectomy, however a total gastrectomy may sometimes be necessary.
Written consent was obtained from the patient for the publication of the case and the clinical images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.
- Jass JR, Williams CB, Bussey HJ, Morson BC: Juvenile polyposis – a precancerous condition. Histopathology. 1988, 13: 619-30.View ArticlePubMedGoogle Scholar
- Howe JR, Sayed MG: The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. J Med Genet. 2004, 41: 484-91. 10.1136/jmg.2004.018598.View ArticlePubMedPubMed CentralGoogle Scholar
- Friedl W, Uhlhaas S: Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. Human genetics. 2002, 111: 108-111. 10.1007/s00439-002-0748-9.View ArticlePubMedGoogle Scholar
- Howe JR, Roth S, Ringold JC, Summers RW, Jarvinen HJ, Sistonen P, Tomlinson IP, Houlston RS, Bevan S, Mitros FA, Stone EM, Aaltonen LA: Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science. 1998, 280: 1086-8. 10.1126/science.280.5366.1086.View ArticlePubMedGoogle Scholar
- Howe JR, Mitros FA, Summers RW: The risk of gastrointestinal carcinoma in familial juvenile polyposis. Ann Surg Oncol. 1998, 5: 751-6. 10.1007/BF02303487.View ArticlePubMedGoogle Scholar
This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.