J Korean Med Sci.  2006 Aug;21(4):752-757. 10.3346/jkms.2006.21.4.752.

Peutz-Jeghers Syndrome with Multiple Genital Tract Tumors and Breast Cancer: A Case Report with a Review of Literatures

• Song SH
• Lee JK
• Saw HS
• Choi SY
• Koo BH
• Kim A
• Yeom BW
• Kim I

• KMID: 2157834
• DOI: http://doi.org/10.3346/jkms.2006.21.4.752

Abstract

We report here on the multiple genital tract neoplasms in a 41-yr-old Korean woman with Peutz-Jeghers Syndrome (PJS). The patient presented with lower abdominal pain. Her previous medical history was PJS and breast cancer. Pelvic ultrasound showed a multilocular cyst at the right adnexal region, diagnosed as bilateral ovarian mucinous borderline tumors. An ovarian sex cord tumor with annular tubules was incidentally diagnosed together with a minimal deviation adenocarcinoma of the uterine cervix and mucinous metaplasia of both the Fallopian tubal mucosa and the endometrium. Although the cases of multiple genital tract tumors with PJS has rarely been reported, the present case appears to be the first in Korea in which the PJS syndrome was complicated by multiple genital tract tumors and infiltrating carcinoma of the breast. The clinical significance of the multiple genital tract tumors and breast cancer associated with PJS is reviewed.

Keyword

Peutz-Jeghers Syndrome; Breast; Ovary; Cervix Uteri; Fallopian Tubes

MeSH Terms

Uterine Cervical Neoplasms/complications/*pathology
Sex Cord-Gonadal Stromal Tumors/complications/pathology
Peutz-Jeghers Syndrome/complications/*pathology
Ovarian Neoplasms/complications/*pathology
Metaplasia
Korea
Humans
Female
Fallopian Tubes/pathology
Endometrium/pathology
Carcinoma, Ductal, Breast/complications/pathology
Breast Neoplasms/complications/*pathology
Adult
Adenocarcinoma/complications/pathology

Figure

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  Fig. 1 The Peutz-Jegher polyp composed of hyperplastic, dilated mucous glands and central radiating smooth muscle bundles. Surface epithelium undergoes hemorrhagic necrosis due to intussception (H-E, ×40).

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  Fig. 2 The invasive ductal carcinoma of the breast (H-E, ×100).

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  Fig. 3 (A) The uterine endocervix shows a nodular pale pink tumor, infiltrating into deep cervical wall. (B) Bilateral ovarian multilocular cysts contain mucus.

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  Fig. 4 The endocervical adenocarcinoma composed of well-differentiated, infiltrative glands (H-E, ×100).

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  Fig. 5 (A) Mucinous tumor of the ovary shows papillary growth and nuclear stratification (H-E, ×200). (B) The sex cord element composed of multiple hyaline materials surrounded by clear cells (H-E, ×200).

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  Fig. 6 (A) The salpingeal mucosa shows mucinous metaplasia (H-E, ×100). (B) Mucinous metaplasia of endometrial glands (H-E, ×100).

Reference

1. Papageorgiou T, Stratakis CA. Ovarian tumors associated with multiple endocrine neoplasias and related syndromes (Carney complex, Peutz-Jeghers Syndrome, von Hippel Lindau disease, Cowden's disease). Int J Gynecol Cancer. 2002. 12:337–347.

2. Young RH, Welch WR, Dickersin GR, Scully RE. Ovarian sex cord tumor with annular tubules. Review of 74 cases including 27 with Peutz-Jeghers syndrome and four with adenoma malignum of the cervix. Cancer. 1982. 50:1384–1402.

3. Srivatsa PJ, Keeney GL, Podratz KC. Disseminated cervical adenoma malignum and bilateral ovarian sex cord tumors with annular tubules associated with Peutz-Jeghers Syndrome. Gynecol Oncol. 1994. 53:256–264.

4. Dozois RR, Judd ES, Dahlin DC, Bartholomew LG. The Peutz-Jeghers syndrome. Is there a predisposition to the development of intestinal malignancy? Arch Surg. 1969. 98:509–517.

5. Chen KT. Female genital tract tumors in Peutz-Jeghers Syndrome. Hum Pathol. 1986. 17:858–861.

6. Podezaski E, Kaminski PF, Pees RC, Singapuri K, Sorosky JI. Peutz-Jeghers Syndrome with ovarian sex cord tumor with annular tubules and cervical adenoma malignum. Gynecol Oncol. 1991. 42:74–78.

7. de Jong MM, Nolte IM, te Meerman GJ, van der Graaf WT, Oosterwijk JC, Kleibeuker JH, Schaapveld M, de Vries EG. Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility. J Med Genet. 2002. 39:225–242.

8. Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV, Cruz-Correa M, Offerhaus JA. Very high risk of cancer in familial Peutz-Jeghers Syndrome. Gastroenterology. 2000. 119:1447–1453.

9. Kuragaki C, Enomoto T, Ueno Y, Sun H, Fujita M, Nakashima R, Ueda Y, Wada H, Murata Y, Toki T, Konishi I, Fujii S. Mutations in the STK11 gene characterize minimal deviation adenocarcinoma of the uterine cervix. Lab Invest. 2003. 83:35–45.

10. Gilks CB, Young RH, Aguirre P, DeLellis RA, Scully RE. Adenoma malignum (minimal deviation adenocarcinoma) of the uterine cervix. A clinicopathological and immunohistochemical analysis of 26 cases. Am J Surg Pathol. 1989. 13:717–729.

11. Seidman JD. Mucinous lesions of the fallopian tube [A report of seven cases]. Am J Surg Pathol. 1994. 18:1205–1212.

12. Shen Z, Wen XF, Lan F, Shen ZZ, Shao ZM. The tumor suppressor gene LKB1 is associated with prognosis in human breast carcinoma. Clin Cancer Res. 2002. 8:2085–2090.

13. Mangili G, Taccagni G, Garavaglia E, Carnelli M, Montoli S. An unusual admixture of neoplastic and metaplastic lesions of the female genital tract in the Peutz-Jeghers Syndrome. Gynecol Oncol. 2004. 92:337–342.