DOI: 10.1148/rg.281075092
RadioGraphics 2008;28:284-288
© RSNA, 2008
Best Cases from the AFIP
Small Bowel Intussusception Secondary to Peutz-Jeghers Polyp1
Stephanie L. Rufener, MD,
Khaldoun Koujok, MD,
Barbara J. McKenna, MD, and
Michael Walsh, MD
1 From the Departments of Radiology (S.L.R., M.W.) and Pathology (B.J.M.), University of Michigan Health System, 1500 East Medical Center Dr, Ann Arbor, MI 48109 and Children’s Hospital of Eastern Ontario Diagnostic Imaging, Ottawa, Ontario, Canada (K.K.). Received May 2, 2007; revision requested June 12 and received July 17; accepted July 24. All authors have no financial relationships to disclose.
Address correspondence to S.L.R. (e-mail: srufener{at}med.umich.edu).
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History
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A 14-year-old girl with recently diagnosed Peutz-Jeghers syndrome presented to the emergency department with abdominal pain that had persisted for 8 hours. The pain was located in the periumbilical region and was described as sharp and intermittent. The patient also reported nausea and several episodes of nonbilious, nonbloody vomiting. Peutz-Jeghers syndrome had been diagnosed approximately 1 month before after endoscopy of the upper gastrointestinal tract was performed because of abdominal pain. Endoscopy demonstrated multiple hamartomatous polyps in the stomach and duodenum. There was no known family history of Peutz-Jeghers syndrome.
Physical examination revealed multiple pigmented lesions on the face, lower lip, and oral mucosa. At abdominal examination, epigastric and periumbilical tenderness, diminished bowel sounds, and a possible epigastric mass were observed. Laboratory data were unremarkable.
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Imaging Findings
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The initial abdominal radiograph demonstrated a nonspecific bowel gas pattern with no evidence of bowel obstruction or free air. Abdominal ultrasonography (US) was then performed and showed a large heterogeneous mass in the upper abdomen that measured 6.4 x 4.5 x 14.9 cm (Fig 1). The mass had a "pseudokidney" appearance with central, high echogenicity consistent with mesenteric fat within an intussusception. An abdominal computed tomographic (CT) examination of the abdomen was then performed following oral administration of approximately 946 mL of diatrizoate sodium (Hypaque; Amersham Health, Princeton, NJ) (no rectal contrast agent was used), with scanning parameters as follows: 5-mm axial collimation, 120 kVp, and 140 mA. The CT images demonstrated a large, complex epigastric soft-tissue mass that measured 13.5 x 5.1 x 15.3 cm in transverse, anteroposterior, and craniocaudal dimensions. CT also showed mesenteric fat and vessels interposed between an intussusceptum and the intussuscipiens, findings that confirmed a diagnosis of small bowel intussusception (Fig 2). The proximal small bowel was mildly dilated to 3.5 cm.
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Figure 1. Abdominal US image demonstrates a large heterogeneous mass with a "pseudokidney" appearance. Central hyperechoic material (thick arrow) represents mesenteric fat within the intussuscipiens, which has a hypoechoic wall (thin arrow).
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Figure 2a. (a) Axial CT image oriented parallel to the longitudinal plane of the intussusception demonstrates a heterogeneous "sausage" mass with central low-attenuation fat (arrow), which is being dragged into the intussuscipiens by the intussusceptum. (b) Axial CT image clearly demonstrates the intussuscipiens (thick white arrow), intussusceptum (thin white arrow), and vessels (black arrows) within the invaginated mesenteric fat. (c) Coronal CT reformatted image depicts the large intussusception mass.
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Figure 2b. (a) Axial CT image oriented parallel to the longitudinal plane of the intussusception demonstrates a heterogeneous "sausage" mass with central low-attenuation fat (arrow), which is being dragged into the intussuscipiens by the intussusceptum. (b) Axial CT image clearly demonstrates the intussuscipiens (thick white arrow), intussusceptum (thin white arrow), and vessels (black arrows) within the invaginated mesenteric fat. (c) Coronal CT reformatted image depicts the large intussusception mass.
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Figure 2c. (a) Axial CT image oriented parallel to the longitudinal plane of the intussusception demonstrates a heterogeneous "sausage" mass with central low-attenuation fat (arrow), which is being dragged into the intussuscipiens by the intussusceptum. (b) Axial CT image clearly demonstrates the intussuscipiens (thick white arrow), intussusceptum (thin white arrow), and vessels (black arrows) within the invaginated mesenteric fat. (c) Coronal CT reformatted image depicts the large intussusception mass.
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Pathologic Evaluation
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The patient underwent an exploratory laparotomy, reduction of small bowel intussusception, polypectomy, and small bowel resection with enteroenterostomy; the intussuscepted small bowel was dilated and dusky (Fig 3). Following careful manual reduction, the perfusion of the small bowel improved dramatically. Intraoperative small bowel enteroscopy revealed the dominant main lead-point polyp, which measured approximately 3 cm in diamter. The lead-point polyp was resected along with a short section of adjacent bowel on either side. A smaller 2-cm polyp was also identified during intraoperative small bowel enteroscopy and was resected.
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Figure 3. Intraoperative photograph shows the transition zone of the intussusception, which was caused by a lead-point Peutz-Jeghers polyp. The intussusceptum (thick arrow) is dilating and obstructing the intussuscipiens (thin arrow).
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The primary gross pathologic specimen consisted of an 8-cm portion of bowel that contained a 3 x 2.5 x 2-cm hemorrhagic lead-point polyp with several smaller polyps aggregated at its base (Fig 4). Histologic analysis showed that the lead-point polyp was composed of a core of arborizing smooth muscle that supported nonneoplastic small bowel mucosa, findings consistent with those of a Peutz-Jeghers polyp (Fig 5). Ischemic necrosis with hemorrhage was prominent over much of the surface of the polyp, a finding consistent with the leading edge of an intussusception. Aggregates of benign small bowel mucosa and pools of mucin were present within the submucosa and muscularis propria at the base of the polyp, a finding that is consistent with epithelial misplacement in a Peutz-Jeghers polyp (Fig 6).
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Figure 4. Photograph of the gross bowel specimen demonstrates the lead-point polyp (thick arrow) with several smaller polyps aggregated at the base of the dominant polyp (thin arrows).
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Figure 5. Photomicrograph (original magnification, x100; hematoxylin-eosin stain) demonstrates that Peutz-Jeghers polyps characteristically contain a core of arborizing smooth muscle (thick arrow), upon which rests mucosa that is native to the site of the polyp, in this case small bowel mucosa. Note that although the surface is hemorrhagic (thin arrow), in other areas the surface is entirely necrotic.
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Figure 6. Photomicrograph (original magnification, x100; hematoxylin-eosin stain) shows that this large Peutz-Jeghers polyp includes nests of benign mucosa (arrows) that are located in the submucosa and muscularis propria, which is called epithelial misplacement or "pseudoinvasion." This is a relatively uncommon but well-described finding in Peutz-Jeghers polyps and should not be mistaken for invasive carcinoma.
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Discussion
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Peutz-Jeghers syndrome was first described by Peutz in 1921 and Jeghers in 1944 and 1949 (1). The syndrome is characterized by mucocutaneous pigmentation and hamartomas of the gastrointestinal system and is seen in both male and female patients with no racial predominance (2). It is usually diagnosed during childhood or early adulthood. Inheritance of the syndrome is autosomal dominant with incomplete penetrance, with some cases arising from spontaneous mutations (3). Mutations to the serine/threonine kinase 11 tumor suppressor gene on chromosome 19p13.3 have been shown to cause Peutz-Jeghers syndrome (4).
Mucocutaneous pigmentation is a characteristic finding of Peutz-Jeghers syndrome and is present in most, but not all, patients who have the disease. The hyperpigmented lesions contain melanotic deposits and commonly manifest in infancy and childhood. The cutaneous lesions are often seen on the lips and perioral region, as well as on the periorbital region. Involvement of the buccal mucosa is also common (5). The mucocutaneous lesions of Peutz-Jeghers syndrome are considered to be hamartomatous in origin and without potential of becoming malignant.
Gastrointestinal hamartomatous polyps are another classic finding of Peutz-Jeghers syndrome. Although these polyps are most commonly found in the small intestine, they can occur anywhere from the stomach to the rectum (6). Patients with Peutz-Jeghers syndrome often present with a history of intermittent abdominal pain due to small bowel intussusception caused by the polyps. Some intussusceptions spontaneously reduce. Others lead to development of small bowel obstruction. Peutz-Jeghers polyps can also ulcerate, leading to acute blood loss or chronic anemia (7). Although Peutz-Jeghers polyps are most commonly found in the gastrointestinal system, they can also occur in extraintestinal sites such as the kidney, ureter, gallbladder, bronchial tree, and nasal passages (8).
Patients with Peutz-Jeghers syndrome are at increased risk of developing gastrointestinal adenocarcinomas. The frequency of gastrointestinal malignancies is estimated to be approximately 2%–3%, with the mean age at diagnosis being about 40 years of age (9). The majority of cancers are found in the stomach, duodenum, and colon. Interestingly, the small bowel is the least common site of adenocarcinoma; because Peutz-Jeghers polyps occur most frequently in the small bowel, it is possible that these polyps have a low potential of becoming malignant. However, cases of dysplastic changes in hamartomatous polyps have been reported, so there may be some potential for malignant transformation (9).
Patients with Peutz-Jeghers syndrome are also at increased risk for developing extraintestinal malignancies, the most common of which are pancreatic, breast, and reproductive organ carcinomas such as ovarian and testicular cancer. An analysis of 419 patients with Peutz-Jeghers syndrome by Hearle et al (10) found that the major risk of extraintestinal malignancy in women was for breast cancer, with the upper confidence limit of the estimated risk being 50% at 60 years of age; this risk is comparable to that associated with mutations of BRCA1 or BRCA2 (tumor suppressor genes that account for the majority of familial breast cancer cases).
Typical imaging features of Peutz-Jeghers syndrome consist of multiple polypoid lesions involving the stomach, small bowel, and colon. The polyps can be variable in appearance—small or large, sessile or pedunculated. The presence of multiple gastrointestinal polyps is not specific for Peutz-Jeghers syndrome, as they can be seen with other polyposis syndromes, such as familial adenomatous polyposis, juvenile polyposis, Cowden disease, and Cronkhite-Canada syndrome. Clinical features in conjunction with radiologic findings and histologic specimens allow for a correct diagnosis to be made. Although the polyps are often detected with barium studies, they can also be identified with US or CT (11). Some authors have suggested using US or magnetic resonance (MR) imaging for follow-up imaging to reduce the lifetime radiation burden, with the caveat that small polyps less than 1.5 cm in diameter could be missed and clustered polyps could be misinterpreted as a larger mass lesion (12).
Another important imaging finding in Peutz-Jeghers syndrome is intussusception. An intussusception is composed of two parts: the intussuscipiens, or receiving loop, and the intussusceptum, or donor loop, which includes an entering limb and a returning limb with attached mesenteric fat interposed between them.
Radiography is often performed as an initial imaging study in patients with suspected intussusception. The most common radiographic sign of an intussusception is a soft-tissue mass, usually located in the right upper quadrant. Other nonspecific findings such as a gasless abdomen or small bowel obstruction may also be seen. The target and meniscus signs are the most specific radiographic findings (13). The target sign consists of a concentric lucent rim surrounding a soft-tissue mass; the appearance is caused by mesenteric fat adjacent to the intussusceptum. The meniscus sign is a crescent of intraluminal bowel gas surrounding the apex of an intussusception.
At US, an intussusception may have a "doughnut" or "pseudokidney" appearance on images obtained transversely or longitudinally to the long axis (14). The hypoechoic outer area represents the edematous bowel wall of the intussuscipiens and the hyperechoic central area represents mesenteric fat that is dragged into the intussusception between the entering and returning limbs of the intussusceptum.
CT findings are similar to those seen at US. On CT images, an intussusception appears as a complex soft-tissue mass composed of a central intussusceptum and outer intussuscipiens. The mesenteric fat that is dragged into the intussusception appears as a low-attenuation, fatty crescentic mass that separates the intussusceptum from the intussuscipiens. Enhancing vessels are often seen within the mesenteric fat. The appearance of an intussusception on CT images is similar to that of a "target" mass when the x-ray beam is perpendicular to the longitudinal axis of the intussusception and to that of a "sausage" mass when the x-ray beam is parallel to the longitudinal axis (15).
Because it appears to be composed of nonneoplastic tissue normally found at the site, the Peutz-Jeghers polyp is generally considered a hamartomatous polyp but with an abnormal growth pattern. The most characteristic feature of a Peutz-Jeghers polyp is a central core of smooth muscle that extends into the polyp in an arborizing fashion and that is covered by either normal or hyperplastic mucosa native to the involved site (16). These pathologic features distinguish Peutz-Jeghers polyps from those seen in Cronkhite-Canada syndrome, juvenile polyposis, and Cowden disease, although any large polyp can include a small amount of smooth muscle due to prolapse.
Epithelial misplacement, also referred to as pseudoinvasion, is another feature seen in some Peutz-Jeghers polyps. It is characterized by benign epithelium and supporting lamina propria within the submucosa, muscularis propria, or subserosal layers of the gut adjacent to a polyp and extravasated mucin pools, which are formed from the mucous secretions of the displaced glands. Epithelial misplacement may be caused by intussusception and is seen in less than 10% of small bowel Peutz-Jeghers polyps; it can mimic the appearance of invasive adenocarcinoma (17). However, noting the lack of epithelial dysplasia, the presence of supporting lamina propria, and the absence of a desmoplastic stromal reaction can help avoid this interpretive error.
In the past, standard therapy for Peutz-Jeghers syndrome has been laparotomy and bowel resection to remove symptomatic gastrointestinal polyps that cause persistent or recurrent intussusceptions. However, some patients require multiple surgical resections, which can lead to short gut syndrome. Because of this, it has been recommended that endoscopy be performed to remove all polyps. During each laparotomy, the small bowel should be examined by means of intraoperative enteroscopy. This more aggressive approach can help to eliminate gastrointestinal symptoms and prevent or postpone repeat abdominal surgeries (18). One study by Oncel et al (19) included 11 Peutz-Jeghers patients who were divided into two groups. One group consisted of eight patients who underwent problem-focused surgery, and the other group consisted of three patients who underwent a "clean sweep" procedure in an attempt to remove all detected polyps. The investigators found that the clean sweep technique significantly reduced the need for further operations (P = .01). The clean sweep group required no further surgeries in 21 patient-follow-up-years; the problem-focused surgery group required 23 further operations in 87 patient-follow-up-years.
Because of the increased risk of both gastrointestinal and extraintestinal malignancy, careful surveillance screening of Peutz-Jeghers patients is recommended. Specific testing should include monitoring hemoglobin levels, as well as regular breast, gynecologic, and testicular examinations. Pelvic, testicular, and pancreatic US screening should also be considered. Gastrointestinal tract screening can be performed with endoscopy of the upper and lower tract in combination with enteroclysis or small bowel capsule endoscopy.
The patient continues to do well and has not had any abdominal pain since her intussusception. She participates in regular activities and continues to undergo surveillance screening, which has been largely unremarkable.
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References
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- Rebsdorf Pederson I, Hartvigsen A, Fischer Hansen B, Toftgaard C, Konstantin-Hansen K, Bullow S. Management of Peutz-Jeghers syndrome: experience with patients from the Danish Polyposis Register. Int J Colorectal Dis 1994;9:177–179.[CrossRef][Medline]
- Bartholomew LG, Moore CE, Dahlin DC, Waugh JM. Intestinal polyposis associated with mucocutaneous pigmentation. Surg Gynecol Obstet 1962; 115:1–11.[Medline]
- Buck JL, Harned RK, Lichtenstein JE, Sobin LH. Peutz-Jeghers syndrome. RadioGraphics 1992;12: 365–387.[Abstract]
- Schreibman IR, Baker M, Amos C, McGarrity T. The hamartomatous polyposis syndromes: a clinical and molecular review. Am J Gastroenterol 2005;100:476–490.[CrossRef][Medline]
- Utsunomiya J, Gocho H, Miyanga T, et al. Peutz-Jeghers syndrome: its natural course and management. Johns Hopkins Med J 1975;136:71–82.[Medline]
- Spigelman AD, Phillips RKS. Peutz-Jeghers syndrome. In: Phillips RKS, Spigelman AD, Thomson JPS, eds. Familial adenomatous polyposis and other polyposis syndromes. London, England: Edward Arnold, 1994; 188–202.
- Kitagawa S, Townsend BL, Hebert AA. Peutz-Jeghers syndrome. Dermatol Clin 1995;13:127–133.[Medline]
- Latchford A, Greenhalf W, Vitone LJ, et al. Peutz-Jeghers syndrome and screening for pancreatic cancer. Br J Surg 2006;93:1146–1455.
- Flageole H, Raptis S, Trudel JL, Lough JO. Progression toward malignancy of hamartomas in a patient with Peutz-Jeghers syndrome: a case report and literature review. Can J Surg 1994;37:231–236.[Medline]
- Hearle N, Schumacher V, Menko F, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res 2006;12(10): 3209–3215.[Abstract/Free Full Text]
- Sener RN, Kumcuoglu Z, Elmas N, Oyar O, Tugran C. Peutz-Jeghers syndrome: CT and US demonstration of small bowel polyps. Gastrointest Radiol 1991;16:21–23.[CrossRef][Medline]
- Kurugoglu S, Aksoy H, Kantarci F, et al. Radiologic work-up in Peutz-Jeghers syndrome. Pediatr Radiol 2003;33:766–771.[Medline]
- Del-Pozo G, Albillos JC, Tejedor D, et al. Intussusception in children: current concepts in diagnosis and enema reduction. RadioGraphics 1999;19: 299–319.[Abstract/Free Full Text]
- Swischuk LE, Hayden CK, Boulden T. Intussusception indications for ultrasonography and/or explanation of the doughnut and pseudokidney signs. Pediatr Radiol 1985;15:388–391.[CrossRef][Medline]
- Gayer G, Hertz M, Zissin R. CT findings of intussusception in adults. Semin Ultrasound CT MR 2003;24:377–386.[CrossRef][Medline]
- Rintala A. The histological appearance of gastrointestinal polyps in the Peutz-Jeghers syndrome. Acta Chir Scand 1959;117:366–373.[Medline]
- Shepherd NA. Polyps and polyposis syndromes of the intestine. Curr Diagn Pathol 1997;4:222–238.[CrossRef]
- Panos RG, Opelka FG, Nogueras JJ. Peutz-Jeghers syndrome: a call for intraoperative enteroscopy. Am Surg 1990;56:331–333.[Medline]
- Oncel M, Remzi FH, Church JM, Connor JT, Fazio VW. Benefits of ‘clean sweep’ in Peutz-Jeghers patients. Colorectal Disease 2004;6:332–335.[CrossRef][Medline]
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History
Imaging Findings
