Two cases of solitary Peutz-Jeghers-type hamartoma of the duodenum

 

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Peutz-Jeghers syndrome is a rare autosomal dominant disease that is characterized by hamartomatous gastrointestinal polyposis and mucocutaneous pigmentation [1]. One report proposed that solitary Peutz-Jeghers-type hamartomatous polyps in patients with no other features of Peutz-Jeghers syndrome were likely to represent a separate disease entity from classic Peutz-Jeghers syndrome [2]. The solitary Peutz-Jeghers-type hamartoma of the duodenum is extremely rare in comparison with Peutz-Jeghers syndrome. We describe two such cases.

Patient 1 was an 87-year-old Japanese woman. She presented at our hospital complaining of epigastric discomfort. Upper gastrointestinal endoscopy revealed a pedunculated polyp, 1.8 cm in diameter and with a long stalk, in the second portion of the duodenum (Figure [1]). Patient 2 was a 56-year-old Japanese man. He was noted to have a high serum level of carcinoembryonic antigen. Upper gastrointestinal endoscopy was performed to screen for gastrointestinal malignancy, and this examination revealed a pedunculated and lobulated polyp in the second portion of the duodenum, 1.2 cm in diameter (Figure [2]).

Figure 1 Upper gastrointestinal endoscopy in patient 1 revealed a pedunculated polyp with a long stalk in the second portion of the duodenum.

Figure 2 Upper gastrointestinal endoscopy in patient 2 revealed a pedunculated and lobulated polyp in the second portion of the duodenum.

Neither patient showed cutaneous pigmentation and we found no other gastrointestinal polyps on colonoscopy or on small-bowel follow-through examination in either patient; both patients had an unremarkable familial medical history. The surface of these polyps was normal in colour. Biopsy specimens revealed normal duodenal mucosa in both cases. These polyps were resected by endosopic polypectomy. Histologically, both the polyps consisted of branching bundles of smooth-muscle fibers covered by hyperplastic duodenal mucosa (Figure [3]).

Figure 3 A low-power view of the resected duodenal polyp from patient 1 (a) and a similar view of the polyp from patient 2 (b), showing branching bundles of smooth-muscle fibers covered by hyperplastic duodenal mucosa in both cases (hematoxylin & eosin stain).

We only found eight well-documented cases of solitary Peutz-Jeghers-type hamartoma of the duodenum in a review of the English-language literature [2] [3] [4] [5]. The features we describe are characteristic of a Peutz-Jeghers polyp. The possibility of a solitary Peutz-Jeghers-type hamartoma should be considered in the differential diagnosis of a duodenal polyp.

Endoscopy_UCTN_Code_CCL_1AB_2AZ_3AB

References

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K. Nakamura, M. D.

Department of Medicine and Bioregulatory Science
Graduate School of Medical Sciences
Kyushu University

Fukuoka 812-8582
Japan

Fax: +81-92-642-5287

Email: knakamur@intmed3.med.kyushu-u.ac.jp