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

  • Yusuke Sekino1,

    Affiliated with

    • Masahiko Inamori1Email author,

      Affiliated with

      • Mitsuru Hirai2,

        Affiliated with

        • Kaori Suzuki1,

          Affiliated with

          • Kaoru Tsuzawa2,

            Affiliated with

            • Keiko Akimoto2,

              Affiliated with

              • Ayako Takahata2,

                Affiliated with

                • Nobutaka Fujisawa2,

                  Affiliated with

                  • Kumiko Saito2,

                    Affiliated with

                    • Akisa Tsunemi3,

                      Affiliated with

                      • Michio Tanaka3,

                        Affiliated with

                        • Hiroshi Iida1,

                          Affiliated with

                          • Yasunari Sakamoto1,

                            Affiliated with

                            • Hirokazu Takahashi1,

                              Affiliated with

                              • Tomoko Koide1,

                                Affiliated with

                                • Chikako Tokoro1,

                                  Affiliated with

                                  • Yasunobu Abe1,

                                    Affiliated with

                                    • Atsushi Nakajima1,

                                      Affiliated with

                                      • Shin Maeda1 and

                                        Affiliated with

                                        • Shigeru Koyama2

                                          Affiliated with

                                          Journal of Medical Case Reports20115:240

                                          DOI: 10.1186/1752-1947-5-240

                                          Received: 11 November 2010

                                          Accepted: 27 June 2011

                                          Published: 27 June 2011

                                          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.
                                          http://static-content.springer.com/image/art%3A10.1186%2F1752-1947-5-240/MediaObjects/13256_2010_1606_Fig1_HTML.jpg
                                          Figure 1

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

                                          http://static-content.springer.com/image/art%3A10.1186%2F1752-1947-5-240/MediaObjects/13256_2010_1606_Fig2_HTML.jpg
                                          Figure 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.
                                          http://static-content.springer.com/image/art%3A10.1186%2F1752-1947-5-240/MediaObjects/13256_2010_1606_Fig3_HTML.jpg
                                          Figure 3

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

                                          http://static-content.springer.com/image/art%3A10.1186%2F1752-1947-5-240/MediaObjects/13256_2010_1606_Fig4_HTML.jpg
                                          Figure 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 [418]. 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.

                                          Author

                                          Year

                                          Number of patients

                                          Age

                                          Sex

                                          Location

                                          Surface

                                          Size (mm)

                                          Treatment

                                          Malignant transformation

                                          Gannon [6]

                                          1962

                                          6

                                          NS

                                          NS

                                          NS

                                          Smooth

                                          NS

                                          NS

                                          No

                                          Shiegel [7]

                                          1978

                                          1

                                          75

                                          NS

                                          2nd

                                          Smooth

                                          NS

                                          surgery

                                          No

                                          Ushijima [8]

                                          1986

                                          1

                                          46

                                          M

                                          2nd

                                          Lobulated

                                          20 × 20 × 15

                                          endoscopy

                                          No

                                          Bott [9]

                                          1986

                                          1

                                          23

                                          M

                                          4th

                                          NS

                                          50 × 40

                                          surgery

                                          No

                                          Naitoh [10]

                                          1988

                                          1

                                          56

                                          F

                                          3rd

                                          Smooth

                                          30 × 15

                                          endoscopy

                                          No

                                          Rossetti [11]

                                          1989

                                          1

                                          22

                                          F

                                          2nd

                                          Smooth

                                          50

                                          endoscopy

                                          No

                                          Tanaka [12]

                                          1990

                                          2

                                          41

                                          M

                                          3rd

                                          Lobulated

                                          25 × 18

                                          endoscopy

                                          No

                                             

                                          82

                                          F

                                          2nd

                                          Lobulated

                                          25 × 20

                                          endoscopy

                                          No

                                          Nebri [4]

                                          1993

                                          1

                                          63

                                          F

                                          1st

                                          NS

                                          50 × 35

                                          surgery

                                          No

                                          Ichiyoshi [13]

                                          1996

                                          1

                                          84

                                          F

                                          2nd

                                          Lobulated

                                          25 × 20

                                          endoscopy

                                          Yes

                                          Oncel [14]

                                          2003

                                          2

                                          68

                                          F

                                          3rd

                                          NS

                                          15

                                          endoscopy

                                          No

                                             

                                          53

                                          M

                                          2nd

                                          Multiple polyps

                                          5

                                          endoscopy

                                          No

                                          Kitaoka [5]

                                          2004

                                          1

                                          22

                                          F

                                          1st

                                          Lobulated

                                          35 × 30 × 30

                                          endoscopy

                                          No

                                          Itaba [15]

                                          2006

                                          2

                                          87

                                          F

                                          2nd

                                          NS

                                          17

                                          endoscopy

                                          No

                                             

                                          56

                                          M

                                          1st

                                          Lobulated

                                          12

                                          endoscopy

                                          No

                                          Suzuki [16]

                                          2008

                                          3

                                          59

                                          F

                                          2nd

                                          Lobulated

                                          15 × 15

                                          surgery

                                          No

                                             

                                          68

                                          F

                                          2nd

                                          Lobulated

                                          10 × 8

                                          endoscopy

                                          Yes

                                             

                                          60

                                          F

                                          1st

                                          Lobulated

                                          10 × 10

                                          endoscopy

                                          No

                                          Jamaludin [17]

                                          2009

                                          1

                                          46

                                          M

                                          1st

                                          Lobulated

                                          70 × 40

                                          surgery

                                          Yes

                                          Kantarcioglu [18]

                                          2009

                                          1

                                          28

                                          M

                                          2nd

                                          Lobulated

                                          25 × 15

                                          endoscopy

                                          No

                                          Sekino: our report

                                          2010

                                          2

                                          84

                                          M

                                          2nd

                                          Lobulated

                                          16 × 13

                                          endoscopy

                                          Yes

                                             

                                          76

                                          M

                                          2nd

                                          Lobulated

                                          15

                                          endoscopy

                                          No

                                          NS: not stated Ethnicity

                                          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, 1922].

                                          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.

                                          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.

                                          Abbreviations

                                          PJS: 

                                          Peutz-Jeghers Syndrome.

                                          Declarations

                                          Acknowledgements

                                          No funding was required for this study.

                                          Authors’ Affiliations

                                          (1)
                                          Gastroenterology Division, Yokohama City University School of Medicine
                                          (2)
                                          Department of Gastroenterology, Tokyo Metropolitan Hiroo Hospital
                                          (3)
                                          Department of Pathology, Tokyo Metropolitan Hiroo Hospital

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                                          © Sekino et al; licensee BioMed Central Ltd. 2011

                                          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.