High-grade endometrial stromal sarcoma as the initial presentation of an adult patient with Peutz-Jeghers Syndrome: a case reportReport as inadecuate

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Hereditary Cancer in Clinical Practice

, 13:6

First Online: 23 January 2015Received: 10 April 2014Accepted: 15 January 2015DOI: 10.1186-s13053-015-0027-0

Cite this article as: Noriega-Iriondo, M.F., Colon-Otero, G., Kipp, B.R. et al. Hered Cancer Clin Pract 2015 13: 6. doi:10.1186-s13053-015-0027-0


A 46-year-old female presents with a pelvic mass and is diagnosed as having a high-grade endometrial stromal sarcoma. During surgery, she is noted to have areas of intussusception of the small bowel secondary to large hamartomatous polyps. The patient had a previous history of small bowel obstruction secondary to what had been thought to be hyperplastic polyps but represented hamartomatous polyps on further review. Additional examination revealed the presence of subtle hyperpigmented macules on the fingers leading to a diagnosis of Peutz-Jeghers Syndrome PJS. The diagnosis was confirmed by the presence of a germ-line STK11 mutation. Immunohistochemistry analysis of the tumor showed decreased expression of STK-11 as compared to one of the patient’s hamartomatous polyps. Next generation sequencing of the tumor specimen failed to demonstrate a -second hit- somatic mutation in STK-11. This case represents the first case of endometrial stromal sarcoma associated with PJS and illustrates the importance of increased awareness of this condition among oncologists. PJS is associated with dysregulation of the mTOR pathway; treatment with an mTOR inhibitor was not effective in this case.

KeywordsPeutz-Jeghers syndrome Endometrial stromal sarcomas Soft tissue sarcomas Gynecologic oncology Everolimus AbbreviationsADMAdenoma malignum

CTComputed tomography

PJSPeutz-Jeghers Syndrome

SCTATSex cords tumor with annular tubules

Electronic supplementary materialThe online version of this article doi:10.1186-s13053-015-0027-0 contains supplementary material, which is available to authorized users.

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Author: Maria Fernanda Noriega-Iriondo - Gerardo Colon-Otero - Benjamin R Kipp - John A Copland - Matthew J Ferber - Laura A Ma

Source: https://link.springer.com/

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