title: High-grade endometrial stromal sarcoma as the initial presentation of an adult patient with Peutz-Jeghers Syndrome: a case report.
abstract: 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.
authors: Centro Universitario contra el Cáncer, Av. Madero U Gonzalitos S/N, Monterrey, Nuevo León Mexico.
authors: Maria Fernanda
authors: MF
authors: Noriega-Iriondo
authors: Division of Hematology/Oncology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224 USA.
authors: Gerardo
authors: G
authors: Colon-Otero
authors: Department of Laboratory Medicine, Mayo Clinic, 55902 Rochester, MN USA.
authors: Benjamin R
authors: BR
authors: Kipp
authors: Department of Cancer Cell Biology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224 USA.
authors: John A
authors: JA
authors: Copland
authors: Department of Laboratory Medicine, Mayo Clinic, 55902 Rochester, MN USA.
authors: Matthew J
authors: MJ
authors: Ferber
authors: Department of Cancer Cell Biology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224 USA.
authors: Laura A
authors: LA
authors: Marlow
authors: Division of Hematology/Oncology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224 USA.
authors: Maegan E
authors: ME
authors: Roberts
authors: Department of Surgical Gynecology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224 USA.
authors: Matthew W
authors: MW
authors: Robertson
authors: Department of Surgical Gynecology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224 USA.
authors: Tri A
authors: TA
authors: Dinh
authors: Division of Hematology/Oncology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224 USA.
authors: Steven
authors: S
authors: Attia
authors: Department of Laboratory Medicine and Pathology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224 USA.
authors: Xochiquetzal J
authors: XJ
authors: Geiger
authors: Department of Gastroenterology and Hepatology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224 USA.
authors: Douglas L
authors: DL
authors: Riegert-Johnson
keywords: Endometrial stromal sarcomas; Everolimus; Gynecologic oncology; Peutz-Jeghers syndrome; Soft tissue sarcomas
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