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Solitary Peutz-Jeghers type hamartomatous polyps in the duodenum are not always associated with a low risk of cancer: two case reports

Yusuke Sekino1, Masahiko Inamori1*, Mitsuru Hirai2, Kaori Suzuki1, Kaoru Tsuzawa2, Keiko Akimoto2, Ayako Takahata2, Nobutaka Fujisawa2, Kumiko Saito2, Akisa Tsunemi3, Michio Tanaka3, Hiroshi Iida1, Yasunari Sakamoto1, Hirokazu Takahashi1, Tomoko Koide1, Chikako Tokoro1, Yasunobu Abe1, Atsushi Nakajima1, Shin Maeda1 and Shigeru Koyama2

Author Affiliations

1 Gastroenterology Division, Yokohama City University School of Medicine, 3-9 Fukuura Kanazawa-ku, Yokohama, 236-0004, Japan

2 Department of Gastroenterology, Tokyo Metropolitan Hiroo Hospital, 2-34-10 Ebisu, Shibuya-ku, Tokyo, 150-0013, Japan

3 Department of Pathology, Tokyo Metropolitan Hiroo Hospital, 2-34-10 Ebisu, Shibuya-ku, Tokyo, 150-0013, Japan

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Journal of Medical Case Reports 2011, 5:240  doi:10.1186/1752-1947-5-240


The electronic version of this article is the complete one and can be found online at: http://www.jmedicalcasereports.com/content/5/1/240


Received:11 November 2010
Accepted:27 June 2011
Published:27 June 2011

© 2011 Sekino et al; licensee 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.

Abstract

Introduction

A hamartomatous polyp without associated mucocutaneous pigmentation or a family history of Peutz-Jeghers Syndrome is diagnosed as a solitary Peutz-Jeghers type hamartomatous polyp. As compared with Peutz-Jeghers Syndrome, Peutz-Jeghers type hamartomatous polyps are diagnosed with a lower risk of cancer and are regarded as a different disorder.

Case presentation

In case one, we describe an 84-year-old Japanese man with a 14 mm duodenal polyp. Endoscopic mucosal resection was performed and histological examination showed findings suggestive of a hamartomatous polyp with a focus of well-differentiated adenocarcinoma. In case two, we describe a 76-year-old Japanese man who had been treated for prostate, rectal and lung cancer. Upper gastrointestinal endoscopy revealed a duodenal polyp measuring 15 mm in diameter. Endoscopic mucosal resection was performed, and histological examination showed findings suggestive of a hamartomatous polyp. Liver and thyroid cancers were found after the endoscopic treatment.

Conclusion

Although duodenal solitary hamartomatous polyps are associated with a lower risk of cancer, four patients, including our cases, have been diagnosed with cancerous polyps. Patients with duodenal solitary hamartomatous polyps should be treated by endoscopic or surgical resection and need whole-body screening.

Introduction

Peutz-Jeghers Syndrome (PJS) is a rare autosomal dominant syndrome which is characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentation [1,2], first described by Peutz in 1921 [3].

A hamartomatous polyp without associated mucocutaneous pigmentation or a family history of PJS is diagnosed as a solitary Peutz-Jeghers type hamartomatous polyp [4]. As compared with PJS, Peutz-Jeghers type hamartomatous polyps are diagnosed with a lower risk of cancer [5] and have been regarded as a different disorder from PJS.

We report two cases with a solitary Peutz-Jeghers type hamartomatous polyp treated by endoscopic mucosal resection.

Case Presentations

Case 1 is an 84-year-old Japanese man with previous medical history of hypertension, chronic hepatitis C infection, idiopathic thrombocytopenic purpura and colon polyps (tubular adenoma and tubulovillous adenoma). He had no mucocutaneous pigmentation or family history of PJS. An upper gastrointestinal endoscopy revealed a lobular polyp measuring 14 mm in diameter, in the superior duodenal angle (Figure 1). Endoscopic mucosal resection was performed without complication and histological examination showed findings suggestive of a hamartomatous polyp--branching bundles of smooth muscle fibers covered by hyperplastic duodenal mucosa--with a focus of well-differentiated adenocarcinoma (Figure 2). A colonoscopy and small-intestinal follow-through showed no other polyps.

thumbnailFigure 1. A lobular duodenal polyp measuring 14 mm in diameter was detected in the superior duodenal angle.

thumbnailFigure 2. Histological examination showed findings suggestive of a hamartoma: branching bundles of smooth muscle fibers covered by hyperplastic duodenal mucosa, with a focus of well-differentiated adenocarcinoma. Hematoxylin and eosin staining (objective 10 ×).

Case 2 is a 76-year-old Japanese man who had been treated for prostate, rectal and lung cancer, with no mucocutaneous pigmentation or family history of PJS. An upper gastrointestinal endoscopy revealed a duodenal polyp measuring 15 mm in diameter in the second part of his duodenum (Figure 3). Endoscopic mucosal resection was performed, and histological examination showed findings suggestive of a hamartomatous polyp (Figure 4). A colonoscopy and small-intestinal follow-through showed no other polyps. After the endoscopic treatment, concomitant liver and thyroid cancers were found.

thumbnailFigure 3. Pedunculated duodenal polyp measuring 15 mm in diameter in the second part of the duodenum.

thumbnailFigure 4. Histological examination showed findings suggestive of a hamartoma without malignant components. Hematoxylin and eosin staining (objective 10 ×).

Discussion

As compared with PJS, Peutz-Jeghers type hamartomatous polyps are diagnosed at a more advanced age, in the absence of mutation of the STK11/LKB-1 gene, and without familial history and mucocutaneous pigmentation [5].

Previous reports showed that polyps due to PJS had 3-6% of neoplastic change, such as adenomas or carcinomas [4-18]. A search of case reports on the MEDLINE database up to July 2010, using the terms "hamartomatous polyp" and "duodenum", and of reference lists of published articles (including our cases), showed 27 patients with a solitary Peutz-Jeghers type hamartomatous polyp in the duodenum (Table 1). Although solitary Peutz-Jeghers type hamartomatous polyps have been considered to show a lower potential for malignant transformation as compared to PJS, three cases (including ours) of solitary Peutz-Jeghers type hamartomatous polyps with malignant components have been reported since 2008, and the total malignant transformation rate of solitary Peutz-Jehgher type hamartomatous polyps was four out of 27 (14.8%). There were no significant tendencies of malignant transformation within the age or sex of the patient, or the location, size or endoscopic appearances of the polyp.

Table 1. Twenty-seven cases of solitary duodenal Peutz-Jeghers type hamartomatous polyps.

The most serious problem in PJS is an increased risk of cancer in the gastrointestinal tract. The occurrence of cancer in the gastrointestinal tract has been reported in 20-25% of patients with PJS, and a risk of cancer in other organs has been also reported, including the ovary, breast, bladder, pancreas and thyroid [2,19-22].

To the best of our knowledge, there have been no previous reports of patients with solitary Peutz-Jeghers type hamartomatous polyps presenting with malignancy in other organs. This is one of the reasons that solitary Peutz-Jeghers type hamartomatous polyps have been considered as a separate clinical entity from PJS. However, Case 2 in our report had duplicated malignancy in six organs. An overlap between solitary Peutz-Jeghers type hamartomatous polyps and PJS may need to be re-examined.

Our two cases were diagnosed in patients with an advanced age similar to previous reports, but they differ in the malignant alteration of a hamartomatous polyp and concomitant other cancers. Patients with duodenal Peutz-Jeghers type hamartomatous polyps should undergo colonoscopy and whole-body screening; duodenal solitary Peutz-Jeghers type hamartomatous polyps should preferably be treated by endoscopic or surgical resection.

Conclusions

We report two cases of duodenal solitary Peutz-Jeghers type hamartomatous polyp. Case 1 was a hamartomatous polyp with a focus of well-differentiated adenocarcinoma, and Case 2 was a hamartomatous polyp with five cancers in other organs. We advise that patients with duodenal solitary Peutz-Jeghers type hamartomatous polyps should preferably be treated with endscopic or surgical resection and whole-body screening.

Abbreviations

PJS: Peutz-Jeghers Syndrome.

Consent

Written informed consent was obtained from both patients for publication of these case reports and any accompanying images. Copies of the written consent are available for review by the Editor-in-Chief of this journal.

Competing interests

The authors declare that they have no competing interests.

Authors' contributions

YS, MI, MH, KS, KT and KA analyzed and interpreted the patient data. AT, NF, KS, AT, MT and HI analyzed endoscopic data. YS, HT, TK, CT, YA, AN and SM performed the histological examination of the organs. YS, MI and SK were major contributors in writing the manuscript. All authors read and approved the final manuscript.

Acknowledgements

No funding was required for this study.

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