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Introduction

Uterine tumor resembling ovarian sex cord tumor (UTROSCT) represents a rare distinct neoplasm included in the current World Health Organization (WHO) classification of endometrial stromat tumors⁽¹⁾ and its clinical characteristics are not fully understood. It was first described by Clement and Scully in 1976⁽²⁾.

These neoplasms resemble morphologically sex cord tumors of the ovary and have a polyphenotypic immunophenotype. Their molecular pathogenesis has not been clearly described yet; however, tumors lack alterations found in other uterine tumors bearing sex cord-like differentiation, such as endometrial stromal sarcoma⁽³⁾.

UTROSCTs usually occur in middle-aged women and behave as tumors of low malignant potential. The clinical characteristics are abnormal uterine bleeding, abdominal pain associated with an enlarged uterus or a palpable uterine mass without specific imaging aspects⁽⁴⁾. Most of the times, the diagnosis is incidental, following immunohistochemical and ultrastructural studies on the surgical specimen⁽⁵⁾.

The treatment options include hysterectomy with or without bilateral salpingo-oophorectomy or even the hysteroscopic resection of the tumor⁽⁶⁾; yet, the management, prognosis, morbidity and mortality of this rare pathology are still under current debate.

In this paper, we present the case of a 32-year-old patient with abnormal uterine bleeding who was finally diagnosed with UTROSCT. Her treatment and follow-up after diagnosis are discussed and the data published regarding this entity are reviewed.

Case report

A 32-year-old gesta 3 para 1 Caucasian woman attended a local hospital accusing a six-month history of abnormal genital bleeding and symptoms associated with anemia. She had no prior history of allergy, comorbidities, use of medication or surgery, and there was no family history of gynecological cancer. The clinical gynecologic examination showed a large, bleeding mass protruding through the cervical os, and the initial pelvic ultrasound examination revealed an uterine hypoechogenic mass with vascularization at power Doppler (RI 0.67) with a diameter of 6/2.5 cm (Figure 1, bottom right). Interestingly, the endometrial sampling revealed a normal microscopic appearance. The patient was referred to our hospital for further investigation; after imaging and diagnostic workup and taking into account that the patient had completed the family planning, we decided to perform a total abdominal hysterectomy with bilateral salpingectomy. At gross pathologic examination, the intracavitary lesion appeared yellow, polycyclic, with a soft consistency and being poorly delineated with respect to the surrounding myometrium (Figures 1 and 2).
 

On microscopic examination, the tumor was composed of elements similar to the sex cord cells with a trabecular and alveolar arhitectural pattern and tubular elements. The cells showed an epithelioid appearance with irregular nuclei and abundant cytoplasm, fine chromatin and a high nucleoplasm ratio. These findings were consistent with UTROSCT. Immunohistochemical staining showed that the tumor cells were positive for Ki67, WT1, ER CD99, caldesmon and calretinin (Figure 1, above right). Both of the tubes were histologically normal.

At the regular checkups, the patient remained asymptomatic with normal pelvic examination and ultrasound findings up until the present time, at 30 months after surgery.

The patient has consented to the submission of the case report to the journal.

Discussion

To date, less than 100 cases of UTROSCT have been reported in literature⁽⁷⁾. The average age at diagnosis is 50.6 years old and the median age is 51 years old, while the tumor size is, on average, 47.6 mm⁽⁸⁾, the latter being consistent with the one in our case report.

The clinical diagnosis of UTROSCT is challenging as the symptoms vary among patients and are not typical in most of the cases, therefore being misleading. The common symptoms consist in abnormal uterine bleeding, including postmenopausal bleeding (33.9%)⁽⁸⁾ and pelvic pain. Dimitriadis et al. reported ectopic hyperprolactinaemia due to a malignant UTROSCT in a patient with a normal cranial MRI and in whom the prolactin rose further with dopamine agonist treatment⁽⁹⁾.

The diagnosis can only be confirmed by histology after tumor resection, in most cases incidentally follow­ing hysterectomy performed due to an uterine mass (endometrial polyp or fibroid)⁽¹⁰⁾. Until now, there have not become available any noninvasive diagnostic tests such as specific serum markers or imaging findings. As a type of rare uterine tumor, UTROSCT can be diagnosed based on morphological and immunohistochemical conditions. Recently, UTROSCTs were found to be defined by recurrent fusions involving NCOA2 (nuclear receptor coactivator 2) or NCOA3, a finding that is directly amenable to diagnostic evaluation⁽³⁾.

The standardized treatment for UTROSCT is lacking, due to its rarity, at present surgery being the preferred therapeutic method. It includes total hysterectomy with or without bilateral salpingo-oophorectomy or mass resection alone. Fertility sparing surgery should be offered to patients who wish to preserve their fertility; however, radical surgery must be considered after childbirth⁽¹⁾. The youngest patient with UTROSCT reported so far is a 22-year-old nulligravida who underwent a hysteroscopic resection of an intrauterine mass presumed as grade I submucous myoma and was free of disease after 20 months, without any adjuvant therapy⁽⁶⁾. In our case, the patient opted for radical surgery as she completed childbearing.

Having an uncertain malignant potential and relapse, the patients diagnosed with UTROSCT should be followed-up closely. Tumor metastasis can occur to the ovary, omentum⁽¹¹⁾, lymph nodes and epiploic appendix⁽¹²⁾, lungs⁽¹³⁾ and vaginal vault⁽⁵⁾. In 2016, Endo et al. reported UTROSCT pelvic lymph node recurrence in a 62-year-old woman, 23 years after hysterectomy⁽¹⁴⁾.

Moreover, there has been described the death of a 49-year-old woman from a metastatic UTROSCT initially considered as metastatic epithelial ovarian cancer⁽¹⁵⁾.

Conclusions

UTROSCT are generally considered benign tumors with a favorable progosis, but they can easily relapse through incomplete resection. Surgery remains the primary management therapy and fertility preservation in patients of childbearing age is a vital consideration. It is crucial for pathologists to recognize this rare entity, as the clinical findings are nonspecific. Close follow-up is required for all patients due to the lack of prognostic biomarkers. 

Conflict of interests: The authors declare no con­flict of interests.