Giant High-Grade Endometrial Stromal Sarcoma Myxoid Variant

Case Report

Austin J Womens Health. 2015; 2(2): 1012.

Giant High-Grade Endometrial Stromal Sarcoma Myxoid Variant

Variant Torres-de la Roche LA¹*, Vrentas V², Henke RP³, Pozder E4, Larbig A5, Taperek-Mildner R5 and De Wilde RL5

¹Clinic for Gynecology, Obstetrics and Gynecological Oncology at Pius Hospital, University Hospital for Gynecology, Carl von Ossietzky University Medical School Oldenburg, Germany

²Clinic for Gynecology, Obstetrics and Gynecological Oncology at Pius Hospital, Oldenburg, Germany.

³Institute of Pathology, Oldenburg, Germany

4Clinic for Gynecology and Obstetrics of Carl von Ossietzky University Oldenburg, Germany

5Clinic for Gynecology, Obstetrics and Gynecological Oncology at Pius Hospital, Oldenburg, Germany

*Corresponding author: Torres-de la Roche LA, Clinic for Gynecology, Obstetrics and Gynecological Oncology at Pius Hospital, University Hospital for Gynecology, Carl von Ossietzky University Medical School Oldenburg, Germany

Received: July 24, 2014; Accepted: August 26, 2015; Published: August 28, 2015

Abstract

Introduction: High-grade endometrial stromal sarcoma is characterized by high Cyclin D1 expression and YWHAE-FAM22 genetic fusion. A rare case of myxoid high-grade endometrial stromal sarcoma with fertility-sparing surgery is described, adding to the evidence and better understanding one of the aggressive tumors of the uterine corpus.

Case Presentation: A 36-year old nulliparous woman with desire to have children, rapid abdominal growth, abdominal pain, and suspicion of leiomyoma underwent laparotomy, where a left intraligamentary tumor of 30cm, 8,5 kg size was removed and the posterior uterine wall reconstructed. Histological, immunohistochemical and genetic tests confirmed high grade endometrial stromal sarcoma, myxoid variant, with high cyclin D1 expression and YWHAE t (10;17) (q22;p13.3) rearrangements. Despite counselling, the patient refused complete hysterectomy.

Conclusion: Pre-surgical diagnosis of endometrial sarcomas remains difficult. The use of immunohisto chemistry and genetic profile testing permit description of new variants of these tumors, allowing for appropriate counselling and management of patients.

Keywords: Endometrial neoplasms; Sarcoma; Endometrial stromal tumors; Cyklin D1; Oncogene proteins; FusionYWHAE

Abbreviations

EST: Endometrial Stromal Tumors; LGESS: Low-Grade Endometrial Stromal Sarcoma; HGESS: High-Grade Endometrial Stromal Sarcoma; CT: Computed Tomography; MRI: Magnetic Resonance Imaging; FISH: Fluorescence In Situ Hybridization

Introduction

From the group of uterine corpus mesenchymal tumors, leiomyosarcomas and Endometrial Stromal Tumors (EST) are the most common malignancies [1,2]. The European Sarcoma Network Working Group recommends use of the WHO 2014 classification of tumors of female reproductive organs, where EST are subdivided into Endometrial Stromal Nodules, Low-Grade Endometrial Stromal Sarcoma (LGESS), High-Grade Endometrial Stromal Sarcoma (HGESS) and Undifferentiated Uterine Sarcoma [1,3]. EST is frequent in older women, but 10 - 25 % of cases are premenopausal women between 42 - 58 years. Black women are more often affected than white. Other recognized risk factors are prior pelvic radiotherapy, prior administration of tamoxifen, and genetics [2,4]. Most women also have abnormal uterine bleeding and dysmenorrhea, but 25% of patients, especially young women, may be asymptomatic [1,2]. EST account for < 10 % of uterine mesenchymal tumors, and 0.2 % of all uterine malignancies [2]. Incidence is 1-2 cases per million women worldwide [4], and 1.32/100 000 women in Germany [3].

HGESS characteristically have a poor prognosis, with a median progression time between 7-23 months after primary treatment, and 5-year overall survival rate less than 57%. Furthermore, HGESS with YWHAE-FAMM22 rearrangements are more aggressive and have still shorter survival rates [5,6]. The case that we presented displayed none of these risk factors, was nearly a decade younger than the average and, like most patients, presented with uterine enlargement and pelvic pain, and was initially operated with a suspected leiomyoma.

Case Presentation

A 36-year old woman was referred to our center with a diagnosis of giant leiomyoma, a history of 4-month symptomatic abdominal pain, rapid abdominal growth, edema, weight loss and varicose veins on her left leg with associated chronic pain. She was nulliparous with regular menstrual cycles, and desire to have children. Two years before, she had hadright adnexectomy because of an ovarian cyst, right-sided hydronephrosis and secondary renal infarct. Upon physical examination, cachexia was apparent, with a palpable tumor from the xiphoid process to the pubis, and a Grade 2 venous insufficiency in the left leg (Figure 1,2).