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

Hereditary Cancer in Clinical Practice

Douglas L Riegert-Johnson²  Xochiquetzal J Geiger⁴  Steven Attia¹  Tri A Dinh⁵  Matthew W Robertson⁵  Maegan E Roberts¹  Laura A Marlow⁶  Matthew J Ferber³  John A Copland⁶  Benjamin R Kipp³  Gerardo Colon-Otero¹  Maria Fernanda Noriega-Iriondo⁷ 

[1] Division of Hematology/Oncology, Mayo Clinic, 4500 San Pablo Road, Jacksonville 32224, FL, USA;Department of Gastroenterology and Hepatology, Mayo Clinic, 4500 San Pablo Road, Jacksonville 32224, FL, USA;Department of Laboratory Medicine, Mayo Clinic, Rochester, 55902, MN, USA;Department of Laboratory Medicine and Pathology, Mayo Clinic, 4500 San Pablo Road, Jacksonville 32224, FL, USA;Department of Surgical Gynecology, Mayo Clinic, 4500 San Pablo Road, Jacksonville 32224, FL, USA;Department of Cancer Cell Biology, Mayo Clinic, 4500 San Pablo Road, Jacksonville 32224, FL, USA;Centro Universitario contra el Cáncer, Av. Madero U Gonzalitos S/N, Monterrey, Nuevo León, Mexico

关键词: Everolimus;    Gynecologic oncology;    Soft tissue sarcomas;    Endometrial stromal sarcomas;    Peutz-Jeghers syndrome;   

Others  :  1133767
DOI  :  10.1186/s13053-015-0027-0

 received in 2014-04-10, accepted in 2015-01-15,  发布年份 2015

【 摘 要 】

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.

【 授权许可】

   
2015 Noriega-Iriondo et al.; licensee BioMed Central.

【 图 表 】

Figure 1.

Figure 2.

Figure 3.

【 参考文献 】

• [1]Beggs AD, Latchford AR, Vasen HF, Moslein G, Alonso A, Aretz S, et al.: Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut 2010, 59:975-86.
• [2]Boardman LA, Pittelkow MR, Couch FJ, Schaid DJ, McDonnell SK, Burgart LJ, et al.: Association of Peutz-Jeghers-like mucocutaneous pigmentation with breast and gynecologic carcinomas in women. Medicine (Baltimore) 2000, 79:293-8.
• [3]Mallory SB, Stough DBT: Genodermatoses with malignant potential. Dermatol Clin 1987, 5:221-30.
• [4]Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJ, et al.: Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res 2006, 12:3209-15.
• [5]Keller JJ, Offerhaus GJ, Giardiello FM, Menko FH: Jan Peutz, Harold Jeghers and a remarkable combination of polyposis and pigmentation of the skin and mucous membranes. Fam Cancer 2001, 1:181-5.
• [6]Lele SM, Sawh RN, Zaharopoulos P, Adesokan A, Smith M, Linhart JM, et al.: Malignant ovarian sex cord tumor with annular tubules in a patient with Peutz-Jeghers syndrome: a case report. Mod Pathol 2000, 13:466-70.
• [7]van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, van Leerdam ME: High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J Gastroenterol 2010, 105:1258-64. author reply 1265
• [8]Koo YJ, Lee JE, Hong SR, Kwon YS: Co-occurrence of an adenoma malignum and an endocervical-type adenocarcinoma of the uterine cervix in a woman with Peutz-Jeghers syndrome. J Gynecol Oncol 2010, 21:203-6.
• [9]Song SH, Lee JK, Saw HS, Choi SY, Koo BH, Kim A, et al.: Peutz-Jeghers Syndrome with multiple genital tract tumors and breast cancer: a case report with a review of literatures. J Korean Med Sci 2006, 21:752-7.
• [10]Riegert-Johnson D, Gleeson FC, Westra W, Hefferon T, Wong Kee Song LM, Spurck L, Boardman LA. In: Riegert-Johnson DL, Boardman LA, Hefferon T, Roberts M, editors. Cancer Syndromes [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2009-.2008 Jul 18 [updated 2008 Aug 09].
• [11]Patterson MJ, Kernen JA: Epithelioid leiomyosarcoma originating in a hamartomatous polyp from a patient with Peutz-Jeghers syndrome. Gastroenterology 1985, 88:1060-4.
• [12]Miyaki M, Iijima T, Hosono K, Ishii R, Yasuno M, Mori T, et al.: Somatic mutations of LKB1 and beta-catenin genes in gastrointestinal polyps from patients with Peutz-Jeghers syndrome. Cancer Res 2000, 60(22):6311-3.
• [13]Klumpen HJ, Queiroz KC, Spek CA, van Noesel CJ, Brink HC, de Leng WW, et al.: mTOR inhibitor treatment of pancreatic cancer in a patient With Peutz-Jeghers syndrome. J Clin Oncol 2011, 29:e150-3.