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01.12.2011 | Case report | Ausgabe 1/2011 Open Access

Journal of Medical Case Reports 1/2011

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

Zeitschrift:
Journal of Medical Case Reports > Ausgabe 1/2011
Autoren:
Yusuke Sekino, Masahiko Inamori, Mitsuru Hirai, Kaori Suzuki, Kaoru Tsuzawa, Keiko Akimoto, Ayako Takahata, Nobutaka Fujisawa, Kumiko Saito, Akisa Tsunemi, Michio Tanaka, Hiroshi Iida, Yasunari Sakamoto, Hirokazu Takahashi, Tomoko Koide, Chikako Tokoro, Yasunobu Abe, Atsushi Nakajima, Shin Maeda, Shigeru Koyama
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​1752-1947-5-240) contains supplementary material, which is available to authorized users.

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.
Abbreviations
PJS
Peutz-Jeghers Syndrome.

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.
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.

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.

Acknowledgements

No funding was required for this study.

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.

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Zusatzmaterial
Authors’ original file for figure 1
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Authors’ original file for figure 2
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Authors’ original file for figure 3
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Authors’ original file for figure 4
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