(Radiographics. 2002;22:415-420.)
© RSNA, 2002
Best Cases from the AFIP
Juvenile Polyposis of the Stomach1
Diego J. Covarrubias, MD and
James E. Huprich, MD
1 From the Department of Diagnostic Radiology, Mayo Clinic, 200 First St SW, Rochester, MN 55905. Received November 20, 2001; revision requested January 2, 2002, and received January 15; accepted January 16. Address correspondence to D.J.C. (e-mail: Covarrubias.Diego@mayo.edu).
Index Terms: Gastrointestinal tract, neoplasms, 72.311 • Juvenile polyposis syndrome, 72.311, 75.311 • Stomach, neoplasms, 72.311
 |
History
|
|---|
A 43-year-old man presented with blood-tinged stools and anemia, with a hemoglobin level of 90 g/L (normal range, 135–175 g/L). Colonoscopy showed numerous polyps in the rectum ranging in diameter from 0.5 to 2 cm and innumerable diminutive polyps throughout the rest of the colon. Upper endoscopy also showed numerous polyps throughout the stomach, with a larger cluster at the gastric antrum that measured 4–5 cm. Biopsies of the stomach and rectum showed benign hamartomas, and he was diagnosed with generalized juvenile polyposis syndrome (JPS). He did well for 2 years on a regimen of stool softeners and then presented with early satiety and an 18–22-kg weight loss. Laboratory studies revealed a protein-losing enteropathy, with a total serum protein level of 52 g/L (normal range, 63–79 g/L) and a serum albumin level of 30 g/L (normal range, 35–50 g/L).
|
Imaging Findings
|
|---|
A double-contrast upper gastrointestinal study showed innumerable polyps of varying diameters (0.5–8 cm) that diffusely carpeted the stomach mucosa (Fig 1a, 1b). Smaller polyps were sessile with a round surface, and larger polyps were pedunculated and had lobulated contours. Larger and more numerous polyps were seen at the gastric antrum. The largest antral polyp prolapsed into the duodenum when the patient was rolled onto his right side. The duodenum was deformed, with mass effect on the second portion that mimicked the appearance of an extrinsic pancreatic mass (Fig 1c). When the patient was rolled onto his back, the polyp pulled back into the stomach and the duodenum emptied normally. No polyps were seen arising from the duodenum.
View larger version (144K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 1a. (a) Radiograph from an upper gastrointestinal study shows innumerable gastric polyps. (b) Radiograph shows a large pedunculated antral polyp that prolapses into the duodenum (arrow). (c) Radiograph obtained with the patient in a prone position shows the prolapsing polyp (arrow), which deforms the proximal duodenum, mimicking the appearance of an extrinsic pancreatic mass.
|
|
View larger version (138K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 1b. (a) Radiograph from an upper gastrointestinal study shows innumerable gastric polyps. (b) Radiograph shows a large pedunculated antral polyp that prolapses into the duodenum (arrow). (c) Radiograph obtained with the patient in a prone position shows the prolapsing polyp (arrow), which deforms the proximal duodenum, mimicking the appearance of an extrinsic pancreatic mass.
|
|
View larger version (131K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 1c. (a) Radiograph from an upper gastrointestinal study shows innumerable gastric polyps. (b) Radiograph shows a large pedunculated antral polyp that prolapses into the duodenum (arrow). (c) Radiograph obtained with the patient in a prone position shows the prolapsing polyp (arrow), which deforms the proximal duodenum, mimicking the appearance of an extrinsic pancreatic mass.
|
|
Arterial-phase images from a contrast-enhanced electron-beam computed tomography (CT) study of the abdomen showed a large, low-attenuation mass that filled the duodenum and displaced the pancreas medially (Fig 2a, Fig 2b). The pancreas was otherwise normal without evidence of a mass. Delayed left lateral decubitus views (Fig 2c) showed that the mass was located in the antrum and prolapsed into the duodenum. Multiple frondlike projections were seen extending from the surface of this mass, which were outlined against oral contrast material on the supine CT scans (Fig 2a) and against air after administration of effervescent granules on the decubitus CT scans (Fig 2c). The CT findings were thought to represent a large mobile gastric polyp, which freely prolapsed into and out of the duodenum. The countless polyps previously shown on the upper gastrointestinal radiographs caused a CT appearance that mimicked diffuse thickening of the stomach wall (Fig 2a). Residual barium from the patient’s upper gastrointestinal and enteroclysis studies limited evaluation of the colon, but no gross large colonic polyps were seen.
View larger version (181K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 2a. CT scans and photographs of the gross specimen. (a) Electron-beam CT scan shows a large, low-attenuation mass with frondlike projections that fills the entire duodenum and gastric antrum. Elsewhere, the stomach wall appears diffusely thickened. (b) CT scan shows that the mass extends inferiorly into the second portion of the duodenum and displaces the pancreas medially. (c) CT scan (delayed left lateral decubitus view) shows that the mass arises from the gastric antrum and prolapses into the duodenum. The mass represents a large prolapsing antral polyp. (d) Photograph of the cut surface of the stomach shows the large prolapsing polyp at the gastric antrum with multiple frondlike projections (arrow), which account for its peculiar CT appearance. Multiple other smaller polyps are seen, such as the one indicated (arrowhead). Scale shown is in centimeters. (e) Close-up photograph shows intricate lobules on the surface of the antral polyp (arrow). Innumerable polyps elsewhere in the stomach account for the CT appearance of thickened rugal folds (*). Scale shown is in centimeters.
|
|
View larger version (177K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 2b. CT scans and photographs of the gross specimen. (a) Electron-beam CT scan shows a large, low-attenuation mass with frondlike projections that fills the entire duodenum and gastric antrum. Elsewhere, the stomach wall appears diffusely thickened. (b) CT scan shows that the mass extends inferiorly into the second portion of the duodenum and displaces the pancreas medially. (c) CT scan (delayed left lateral decubitus view) shows that the mass arises from the gastric antrum and prolapses into the duodenum. The mass represents a large prolapsing antral polyp. (d) Photograph of the cut surface of the stomach shows the large prolapsing polyp at the gastric antrum with multiple frondlike projections (arrow), which account for its peculiar CT appearance. Multiple other smaller polyps are seen, such as the one indicated (arrowhead). Scale shown is in centimeters. (e) Close-up photograph shows intricate lobules on the surface of the antral polyp (arrow). Innumerable polyps elsewhere in the stomach account for the CT appearance of thickened rugal folds (*). Scale shown is in centimeters.
|
|
View larger version (175K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 2c. CT scans and photographs of the gross specimen. (a) Electron-beam CT scan shows a large, low-attenuation mass with frondlike projections that fills the entire duodenum and gastric antrum. Elsewhere, the stomach wall appears diffusely thickened. (b) CT scan shows that the mass extends inferiorly into the second portion of the duodenum and displaces the pancreas medially. (c) CT scan (delayed left lateral decubitus view) shows that the mass arises from the gastric antrum and prolapses into the duodenum. The mass represents a large prolapsing antral polyp. (d) Photograph of the cut surface of the stomach shows the large prolapsing polyp at the gastric antrum with multiple frondlike projections (arrow), which account for its peculiar CT appearance. Multiple other smaller polyps are seen, such as the one indicated (arrowhead). Scale shown is in centimeters. (e) Close-up photograph shows intricate lobules on the surface of the antral polyp (arrow). Innumerable polyps elsewhere in the stomach account for the CT appearance of thickened rugal folds (*). Scale shown is in centimeters.
|
|
View larger version (91K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 2d. CT scans and photographs of the gross specimen. (a) Electron-beam CT scan shows a large, low-attenuation mass with frondlike projections that fills the entire duodenum and gastric antrum. Elsewhere, the stomach wall appears diffusely thickened. (b) CT scan shows that the mass extends inferiorly into the second portion of the duodenum and displaces the pancreas medially. (c) CT scan (delayed left lateral decubitus view) shows that the mass arises from the gastric antrum and prolapses into the duodenum. The mass represents a large prolapsing antral polyp. (d) Photograph of the cut surface of the stomach shows the large prolapsing polyp at the gastric antrum with multiple frondlike projections (arrow), which account for its peculiar CT appearance. Multiple other smaller polyps are seen, such as the one indicated (arrowhead). Scale shown is in centimeters. (e) Close-up photograph shows intricate lobules on the surface of the antral polyp (arrow). Innumerable polyps elsewhere in the stomach account for the CT appearance of thickened rugal folds (*). Scale shown is in centimeters.
|
|
View larger version (148K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 2e. CT scans and photographs of the gross specimen. (a) Electron-beam CT scan shows a large, low-attenuation mass with frondlike projections that fills the entire duodenum and gastric antrum. Elsewhere, the stomach wall appears diffusely thickened. (b) CT scan shows that the mass extends inferiorly into the second portion of the duodenum and displaces the pancreas medially. (c) CT scan (delayed left lateral decubitus view) shows that the mass arises from the gastric antrum and prolapses into the duodenum. The mass represents a large prolapsing antral polyp. (d) Photograph of the cut surface of the stomach shows the large prolapsing polyp at the gastric antrum with multiple frondlike projections (arrow), which account for its peculiar CT appearance. Multiple other smaller polyps are seen, such as the one indicated (arrowhead). Scale shown is in centimeters. (e) Close-up photograph shows intricate lobules on the surface of the antral polyp (arrow). Innumerable polyps elsewhere in the stomach account for the CT appearance of thickened rugal folds (*). Scale shown is in centimeters.
|
|
Enteroclysis showed no polyps in the jejunum and ileum (images not shown). The colonic polyps have been managed with yearly surveillance colonoscopy and biopsies, and have remained stable.
|
Pathologic Evaluation
|
|---|
Following a gastrotomy to pull the prolapsing polyp back into the antrum, a total gastrectomy with Roux-en-Y esophagojejunostomy and side-to-side jejunojejunostomy was performed, and the gross specimen was removed en bloc. Gross pathologic examination showed innumerable polyps ranging in diameter from 0.5 to 8.0 cm that completely covered the mucosal surface of the stomach (Fig 2). The largest pedunculated polyp originated at the gastric antrum and prolapsed into the duodenum (Figs 2, 3). It had a long stalk that allowed it to freely cross the pylorus and move in and out of the duodenum with changes in patient position. The surface of this larger, dominant polyp was covered with countless lobulations and frondlike projections, accounting for its peculiar CT appearance.
View larger version (136K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 3a. Histologic findings. (a) Low-power photomicrograph of a section through the large prolapsing antral polyp (original magnification, x1; hematoxylin-eosin stain) shows intact muscularis mucosa at the bottom of the image, with a sharp transition to hyperplastic cystic tubular structures in the specific glandular compartment (arrows). Note the edematous stroma in the superficial layers of the polyp. (b) Higher-power photomicrograph of the superficial margin of the polyp (original magnification, x12.5; hematoxylin-eosin stain) shows that the lamina propria and foveolar compartment are filled with inflammatory cells. Glandular hyperplasia is again noted in the specific glandular compartment (arrow).
|
|
View larger version (154K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 3b. Histologic findings. (a) Low-power photomicrograph of a section through the large prolapsing antral polyp (original magnification, x1; hematoxylin-eosin stain) shows intact muscularis mucosa at the bottom of the image, with a sharp transition to hyperplastic cystic tubular structures in the specific glandular compartment (arrows). Note the edematous stroma in the superficial layers of the polyp. (b) Higher-power photomicrograph of the superficial margin of the polyp (original magnification, x12.5; hematoxylin-eosin stain) shows that the lamina propria and foveolar compartment are filled with inflammatory cells. Glandular hyperplasia is again noted in the specific glandular compartment (arrow).
|
|
Histologic examination showed that all of the polyps in the surgical specimen were inflammatory polyps, typical of hamartomas of the juvenile type. The glandular compartment was markedly hyperplastic and filled with cystic tubular structures due to hyperplasia of foveolae and mucosal glands (Fig 3a). Below it, the muscularis mucosa was spared. The superficial layers in the lamina propria and foveolar compartment were edematous (Fig 3a) and conspicuously infiltrated with plasma cells and lymphocytes (Fig 3b). Mucosal inflammation within the juvenile polyp results in a relatively high water content, which accounts for its low attenuation at CT. No adenomas, polyps with adenomatous features, or foci of dysplasia were found.
|
Discussion
|
|---|
Unlike solitary juvenile polyps, which occur commonly in children and young adults, JPS is a rare disease that affects approximately 1 in every 100,000 people (1–4). The diagnosis is made when any of the following three criteria is met: (a) more than five colonic juvenile polyps, (b) juvenile polyps throughout the gastrointestinal tract, and (c) any number of juvenile polyps in an individual with a family history (1,4,5).
JPS has been classified into three subgroups based on the clinical presentation: diffuse juvenile polyposis, juvenile polyposis coli, and juvenile polyposis of infancy (1,5,6). Patients in the former two groups usually present in the second decade of life with rectal bleeding, anemia, and rectal prolapse (1,4). In up to 15% of JPS patients, the diagnosis is delayed until adulthood (1). In addition, patients with diffuse JPS may present with protein-losing enteropathy or pyloric obstruction from gastric involvement (7–9). Infants with juvenile polyposis present with intractable diarrhea, recurrent gastrointestinal bleeding, intussusception, malabsorption, and malnutrition. The prognosis is poor, with many patients dying before the age of 2 years (5).
In patients with diffuse JPS, a variable number of polyps is found, usually between 50 and 200 (1,4,10). The most common location in a series of 272 JPS patients studied by Hofting et al (11) was the colon (98% of patients), followed by the stomach (14%), small intestine (6.5%), and duodenum (2%). However, one must be cautious when interpreting these data, since screening of the upper gastrointestinal tract did not become part of the routine surveillance regimen until recently (1,12). Jarvinen and Sipponen (7) found gastroduodenal polyps in 92% of patients in a small series of 12 JPS patients.
To our knowledge, only 41 cases of JPS affecting the stomach have been reported in the literature (8). The most common location of polyps is the gastric antrum, which was involved in 83% of patients in one series (7). When there is diffuse gastric involvement, the greatest polyp burden will be in the antrum. This is in contradistinction to familial adenomatous polyposis, in which polyps are clustered in the gastric fundus and body. Large polyps in the gastric antrum may prolapse into the duodenum and cause intermittent pyloric obstruction (7). To our knowledge, our case represents only the second report in the literature of a giant juvenile polyp manifesting as a prolapsing antral mass.
Up to 20%–50% of cases of JPS are familial and are inherited in an autosomal dominant fashion (1–4,11). An association with mutations to the DPC4 gene located in chromosome 18q21.1 has been established (10,13,14). This gene codes for a protein that acts as a cytoplasmic mediator in the transforming growth factor ß pathway, which transmits growth inhibitory signals from the cell surface to the nucleus (10,13). Presumably, a disruption in the DPC4 gene would lead to overgrowth and eventually neoplasia (10,13). Nonetheless, the proportion of familial JPS patients with a DPC4 mutation is small (up to 21%), and there remains substantial uncharacterized genetic heterogeneity in this syndrome (14).
Extraintestinal manifestations of JPS occur in 11%–20% of cases (1). The more common manifestations include pulmonary arteriovenous malformations, cardiac anomalies, and macrocephaly (6). A variety of other anomalies in JPS have been reported in single patients, including gastrointestinal, genitourinary, central nervous system, and soft-tissue congenital anomalies (1,6,10,15). The wide variability of the JPS phenotype is consistent with the experimental observations of genetic heterogeneity (1).
Single juvenile polyps are generally thought to represent benign hamartomas with no malignant potential. Nonetheless, the presence of multiple juvenile polyps in JPS is associated with an increased risk of gastrointestinal malignancy, with a cumulative lifetime risk of up to 50% (16,17). Cancers most commonly occur in the colon and stomach, although duodenal and pancreatic cancers have also been reported (18).
Individual juvenile polyps may show epithelial atypia and take on a distinctly adenomatous appearance (19). In a study that involved 1,032 polyps in 87 patients, Jass et al (4) found mild dysplasia in 121 (12%) and moderate to severe dysplasia in 34 (3%). They also found 21 adenomas among the polyps studied (2%). On the basis of similar observations in a patient who developed rectal adenocarcinoma, Goodman et al (19) proposed a hamartoma-adenoma-adenocarcinoma pathogenetic sequence in JPS. In this theory, dysplasia within the inflammatory juvenile polyp leads to focal adenomatous change and then formation of an adenoma, which then develops into adenocarcinoma. Others have disputed this claim, pointing out that these lesions may merely coexist with each other and that data regarding the precise sequence of biologic transformation are still lacking (1).
Endoscopic surveillance of both the upper and lower gastrointestinal tracts is recommended in patients with JPS due to its malignant potential. Wirtzfeld et al (10) recommend screening of family members of a patient with JPS to begin at 15 years of age. If results are negative, upper and lower endoscopy is repeated every 3 years until the age of 40 years (17). If results are positive, the patient should return for yearly upper or lower endoscopy until free of polyps (10). Small numbers of polyps can be managed with polypectomy, but multiple polyps often require surgical management. Although the traditional procedure has been prophylactic subtotal colectomy by the age of 20 years, Scott-Conner et al (17) have noted that the high recurrence rate in these patients warrants consideration of a restorative proctocolectomy at the time of the initial operation. Prophylactic surgery for JPS of the stomach is generally not advised. Rather, treatment is guided by the clinical symptoms.
The differential diagnosis of juvenile polyposis of the stomach includes familial adenomatous polyposis (Gardner syndrome), Peutz-Jeghers syndrome, multiple hamartoma syndrome (Cowden disease), and Cronkhite-Canada syndrome (15). As already mentioned, predominance of polyps in the gastric antrum should favor the diagnosis of JPS over familial adenomatous polyposis (7). Mucocutaneous lesions are present in Peutz-Jeghers syndrome and Cowden disease, which should aid in diagnosis. The polyps in Cronkhite-Canada syndrome can be indistinguishable from JPS at histologic analysis, although they are usually smaller and more commonly sessile at upper gastrointestinal study (2). Awareness among radiologists of this rare syndrome is important, as early detection will identify patients who will benefit from polypectomy and prophylactic surgery.
|
Acknowledgments
|
|---|
The authors thank Lawrence Burgart, MD, for his invaluable assistance with the Pathologic Evaluation section of this article.
|
Footnotes
|
|---|
Abbreviation: JPS = juvenile polyposis syndrome
Editor's Note.— Everyone who has taken the course in radiologic pathology at the Armed Forces Institute of Pathology (AFIP) remembers bringing two beautifully illustrated cases for accession to the Institute. In recent years, the staff of the Department of Radiologic Pathology has judged the "best cases" by organ system, and recognition is given to the winners on the last day of the class. Beginning with the July 2001 issue of RadioGraphics, one of these cases is published with each issue of the Journal, written by the winning resident. Radiologic-pathologic correlation is emphasized, and the causes of the imaging signs of various diseases are illustrated.
|
References
|
|---|
-
Desai DC, Neale KF, Talbot IC, Hodgson SV, Phillips RKS. Review: juvenile polyposis. Br J Surg 1995; 82:14-17.[Medline]
-
Harned RK, Buck JL, Sobin LH. The hamartomatous polyposis syndromes: clinical and radiologic features. AJR Am J Roentgenol 1995; 164:565-571.[Abstract/Free Full Text]
-
Sassatelli R, Bertoni G, Serra L, Bedogni G, Ponz de Leon M. Generalized juvenile polyposis with mixed pattern and gastric cancer. Gastroenterology 1993; 104:910-915.[Medline]
-
Jass JR, Williams CB, Bussey HJR, Morson BC. Juvenile polyposis: a precancerous condition. Histopathology 1988; 13:619-630.[Medline]
-
Sachatello CR, Hahn IS, Carrington CB. Juvenile gastrointestinal polyposis in a female infant: report of a case and review of the literature of a recently recognized syndrome. Surgery 1974; 75:107-114.[Medline]
-
Coburn MC, Pricolo VE, DeLuca FG, Bland KI. Malignant potential in intestinal juvenile polyposis syndromes. Ann Surg Oncol 1995; 2:386-391.[Abstract]
-
Jarvinen HJ, Sipponen P. Gastroduodenal polyps in familial adenomatous and juvenile polyposis. Endoscopy 1986; 18:230-234.[Medline]
-
Hizawa K, Iida M, Yao T, Aoyagi K, Fujishima M. Juvenile polyposis of the stomach: clinicopathological features and its malignant potential. J Clin Pathol 1997; 50:771-774.[Abstract/Free Full Text]
-
Watanabe A, Nagashima H, Motoi M, Ogawa K. Familial juvenile polyposis of the stomach. Gastroenterology 1979; 77:148-151.[Medline]
-
Wirtzfeld DA, Petrelli NJ, Rodriguez-Bigas MA. Hamartomatous polyposis syndromes: molecular genetics, neoplastic risks, and surveillance recommendations. Ann Surg Oncol 2001; 8:319-327.[Abstract/Free Full Text]
-
Hofting I, Pott G, Stolte M. Das syndrom der juvenilen polyposis. Leber Magen Darm 1993; 23:107-112.[Medline]
-
Gyrtrup HJ, Siemsen M, Vilmann P, Morgensen AM. Endoscopic ultrasonography in the evaluation of gastric polyps in juvenile polyposis. Endoscopy 1997; 29:136-137.[Medline]
-
Howe JR, Roth S, Ringold JC, et al. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 1998; 280:1086-1088.[Abstract/Free Full Text]
-
Woodford-Richens K, Bevan S, Churchman M, et al. Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. Gut 2000; 46:656-660.[Abstract/Free Full Text]
-
Schwartz AM, McCauley RGK. Juvenile gastrointestinal polyposis. Radiology 1976; 121:441-444.[Abstract]
-
Jarvinen HJ, Franssila KO. Familial juvenile polyposis coli: increased risk of colorectal cancer. Gut 1984; 25:792-800.[Abstract/Free Full Text]
-
Scott-Conner CEH, Hausmann M, Hall TJ, et al. Familial juvenile polyposis: patterns of recurrence and implications for surgical management. J Am Coll Surg 1995; 181:407-413.[Medline]
-
Howe JR, Mitros FA, Summers RW. The risk of gastrointestinal carcinoma in familial juvenile polyposis. Ann Surg Oncol 1998; 5:751-756.[Abstract]
-
Goodman ZD, Yardley JH, Milligan FD. Pathogenesis of colonic polyps in multiple juvenile polyposis. Cancer 1979; 43:1906-1913.[CrossRef][Medline]
Top
History
Imaging Findings
