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• W2153532020 abstract "Question: A 65-year-old woman was referred for progressive upper abdominal complaints, including nausea, vomiting, and a sensation of ‘fullness’ after meals. Her history reveals resection of a tubulovillous adenoma with low-grade dysplasia from the cecum 4 years ago. Three years before the current presentation, she underwent an amputation of the right mamma because of a nonmetastasized T2N1M0 adenocarcinoma, followed by adjuvant chemotherapy and hormonal therapy. Currently, she did not use any medication. Her family history was unremarkable for (gastrointestinal) polyps or cancer. Apart from some tenderness in the epigastric region, no abnormalities were found on physical examination. Her laboratory values showed a hemoglobin of 6.3 mmol/L (10.1 g/dL) with a normal mean corpuscular volume of 90.2 fL, a lactate dehydrogenase of 174 U/L, and normal liver enzymes. Abdominal computed tomography (CT) showed a thickened stomach wall with filling defects (Figure A), with 2 larger masses of 7.2 cm and 5.2 cm in the proximal and distal stomach, respectively. A subsequent upper gastrointestinal (GI) endoscopy demonstrated massive polyposis of virtually the whole stomach except for the antrum (Figure B, C). The polyps were smooth, 3-16 mm in diameter, with a pedunculated and lobulated appearance, some of the polyps had erosions on the top and some were confluent with each other. In the middle of a bundle of polyps in the cardia, a necrotic mass was visualized (Figure D). Multiple biopsies were taken from the polyps and the necrotic mass. What is the diagnosis? Look on page 975 for the answer and see the Gastroenterology web site (www.gastrojournal.org) for more information on submitting your favorite image to Clinical Challenges and Images in GI. Random biopsies taken from some of the polyps histopathologically classified them as hamartomatous or juvenile without dysplasia. Biopsies from the whitish necrotic mass revealed adenocarcinoma. An additional fluorodeoxyglucose positron emission tomography (FDG-PET-CT) ruled out distant metastases and a colonoscopy was unremarkable. The patient was proposed to undergo a total gastrectomy with neoadjuvant chemotherapy consisting of epirubicin, oxaliplatin, and capecitabin. Because there was a strong suspicion for juvenile polyposis syndrome (JPS), she was additionally referred for genetic counselling. Unfortunately, the chemotherapy was complicated by severe mucositis and neutropenia, followed by an abdominal sepsis from which she died in the intensive care unit. Post mortem examination showed massive polyposis of the stomach (Figure E). Histopathologically, the polyps were classified as juvenile without dysplasia (Figure F) and adenocarcinoma (Figure G, H). Genetic analysis revealed a heterozygous, pathologic germline mutation in the SMAD4 gene (splice site mutation: c.1140-1G>A), consistent with juvenile polyposis syndrome. No mutations in the BMPR1A gene were found. Additional inquiring revealed that the patient did not have telangiectasia; however, she sometimes had spontaneous nosebleeds during her childhood. JPS is a rare hamartomatous polyposis syndrome with a heterogenous presentation both genotypically and phenotypically.1Latchford A.R. Neale K. Phillips R.K. et al.Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome.Dis Colon Rectum. 2012; 55: 1038-1043Crossref PubMed Scopus (91) Google Scholar The diagnosis JPS is made when (1) ≥5 juvenile polyps in the colorectum, (2) juvenile polyps in the entire GI tract, or (3) any number of polyps in a patient with a positive family history for polyposis syndrome are present.2Chow E. Macrae F. A review of juvenile polyposis syndrome.J Gastroenterol Hepatol. 2005; 20: 1634-1640Crossref PubMed Scopus (114) Google Scholar The syndrome is associated with an enhanced risk for GI malignancies with a lifetime risk varying from 25% to 68%.2Chow E. Macrae F. A review of juvenile polyposis syndrome.J Gastroenterol Hepatol. 2005; 20: 1634-1640Crossref PubMed Scopus (114) Google Scholar In 50% of all JPS patients, SMAD4 or BMPR1A germline mutations are found; in the remaining patients, no mutations are present.1Latchford A.R. Neale K. Phillips R.K. et al.Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome.Dis Colon Rectum. 2012; 55: 1038-1043Crossref PubMed Scopus (91) Google Scholar Massive JPS polyposis limited to the stomach is rare and this condition is almost always associated with SMAD4 germline mutations.1Latchford A.R. Neale K. Phillips R.K. et al.Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome.Dis Colon Rectum. 2012; 55: 1038-1043Crossref PubMed Scopus (91) Google Scholar, 2Chow E. Macrae F. A review of juvenile polyposis syndrome.J Gastroenterol Hepatol. 2005; 20: 1634-1640Crossref PubMed Scopus (114) Google Scholar Moreover, recent data demonstrated that almost all SMAD4 germline mutation carriers fulfil the criteria for hereditary hemorrhagic telangiectasia (HHT), the so-called JPS–HHT overlap syndrome.3Gallione C.J. Repetto G.M. Legius E. et al.A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).Lancet. 2004; 363: 852-859Abstract Full Text Full Text PDF PubMed Scopus (541) Google Scholar HHT is characterized by spontaneous epistaxis, typical telangiectasia on the face, lips, and tongue, or as pulmonic, liver, or cerebral arteriovenous malformations.3Gallione C.J. Repetto G.M. Legius E. et al.A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).Lancet. 2004; 363: 852-859Abstract Full Text Full Text PDF PubMed Scopus (541) Google Scholar Massive gastric polyposis requires the specific attention of every clinician and molecular genetic analysis via a clinical geneticist is essential, because of the indicated endoscopic surveillance of both the afflicted patient and his or her first-degree relatives. If endoscopic surveillance becomes unreliable because of the extensiveness of the polyposis, surgical treatment should be considered, even without presence of dysplasia on histopathologic examination of random biopsies of the polyps. Finally, because of the clinical consequences, screening for HHT is indicated in all carriers of a proven SMAD4 germline mutation." @default.
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• W2153532020 title "A Full Stomach" @default.
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• W2153532020 doi "https://doi.org/10.1053/j.gastro.2014.06.003" @default.
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