Rare Ovarian Tumor Research Articles

65. A Case Review of a Rare Ovarian Tumor Presenting with Ovarian Torsion and Isosexual Precocious Puberty

Precocious puberty is the onset of secondary sexual characteristics prior to 8 years of age. It can be related to a central or peripheral process. In the setting of an ovarian mass the differential diagnosis includes functional ovarian cysts, McCune Albright syndrome (MAS), hypothyroidism and Sex Cord Stromal tumors (SCST) most commonly Granulosa cell tumors.

Ultrasound and Histopathologic Correlation of Ovarian Cystadenofibromas: Diagnostic Value of the "Shadow Sign".

Cystadenofibromas (CAFs) are rare benign ovarian tumors without a widely accepted ultrasound (US) pattern. They are usually described by as thin-walled, unilocular or multilocular, and at times septated cysts with scant blood flow and no solid components. We describe a unique US feature, the "shadow sign," seen in prospectively diagnosed benign CAFs. We also provide the histopathologic basis for this typical US appearance. Ultrasound (US) examinations were performed in our obstetric and gynecologic US unit. Pathologic examinations were performed by a dedicated gynecologic pathology team. The US and pathology department's database was searched for the diagnosis of a CAF between 2010 and 2017. We identified 20 patients who underwent transvaginal US examinations with a sole US diagnosis of a CAF, and the tumors were surgically removed. The common US feature across the 20 cases was the presence of hyperechoic avascular shadowing nodules. The correlating histologic features were unilocular or multilocular cysts with a smooth internal wall surface lined by a simple epithelium and occasional robust polypoid fibrous stroma. This US marker helps in differentiating CAFs from borderline ovarian tumors, which do not show this US feature. We hope that recognizing the suggested shadow sign as an additional descriptor of CAFs will lead to minimizing their unnecessary removal and eliminating additional and unnecessary imaging by computed tomography and magnetic resonance imaging.

Struma Ovarii, A Rare Ovarian Tumor: Case Report

Struma ovarii represents a rare type of teratoma that is formed entirely of thyroid tissue. In most cases, these tumors are benign; however, malignant ones have also been reported. It is usually seen between 40 and 60 years and accounts for about 5 % of all cases of ovarian teratomas. Our case was a female patient, 40 years old, who was presented with vaginal bleeding, abdominal swelling and left sided pelvic mass for six months. Clinical examination and imaging techniques showed left ovarian neoplastic lesion and small amount of fluid in Douglas pouch. After laparoscopic excision, Histopathological examination was performed, it showed ovarian tissue, predominantly formed of mature thyroid tissue which are the key features of struma ovarii. In Conclusion: Struma ovarii is a rare ovarian tumor with variable clinical presentations, even can be malignant. Pre-operative diagnosis is usually difficult and confusing, so, it should be put in consideration in differential diagnosis of ovarian masses.

Case report of a girl with rare ovarian steroid cell tumor

对郑州儿童医院内分泌遗传代谢科收治的1例女童卵巢类固醇细胞瘤患儿的临床资料行回顾性分析。患儿，女，7岁，其临床特点为女童异性性早熟。查体：男性化体征。雄烯二酮、睾酮、17a-羟基孕酮明显高于正常，骨龄超前，盆腔磁共振成像示卵巢来源肿瘤可能性大，病理检查提示右侧卵巢类固醇细胞肿瘤。予右侧卵巢肿瘤切除术。现随访3个月血清雄激素正常，男性化体征无进展。提示女童异性性早熟，要考虑卵巢类固醇细胞瘤可能，手术是最重要的治疗手段，激素水平及影像学检查对诊断、病情监测、疗效评估有重要价值。对该疾病要重视后期随访。

A Rare Case of Uterine Torsion With Juvenile Granulosa Cell Tumor in the Pediatric Patient

Juvenile granulosa cell tumors of the ovary are rare sex cord-stromal ovarian tumors that are typically diagnosed during the first 2 decades of life. Most patients present with precocious puberty in the early stages of disease. We present a rare case of asymptomatic uterine torsion from a 15-cm juvenile granulosa cell tumors in a 5-year-old girl with elevated inhibin B, breast development, vaginal bleeding, and a palpable right-sided abdominal mass.

High-grade serous ovarian carcinoma with mucinous differentiation: report of a rare and unique case suggesting transition from the \u201cSET\u201d feature of high-grade serous carcinoma to the \u201cSTEM\u201d feature

BackgroundHigh-grade serous carcinoma, a representative high-grade ovarian carcinoma, is believed to be closely associated with a TP53 mutation. Recently, this category of ovarian carcinoma has gained increasing attention owing to the recognition of morphological varieties of TP53-mutated high-grade ovarian carcinoma. Herein, we report the case of a patient with high-grade serous carcinoma with mucinous differentiation.Case presentationA 59-year-old postmenopausal woman was referred to the gynecologist because of abnormal vaginal bleeding. The radiological assessment revealed an intrapelvic multicystic mass, which was interpreted as an early right ovarian cancer and then removed by radical surgery. Histologically, the cancer cells were found in the bilateral ovaries and para-aortic lymph nodes. The cancer cells showed high-grade nuclear atypia and various morphologies, including the solid, pseudo-endometrioid, transitional cell-like (SET) pattern, and mucin-producing patterns. Benign and/or borderline mucin-producing epithelium, serous tubal intraepithelial carcinoma, and endometriosis-related lesions were not observed. In immunohistochemistry analyses, the cancer cells were diffuse positive for p53; block positive for p16; partial positive for WT1, ER, PgR, CDX2 and PAX8; and negative for p40, p63, GATA3, Napsin A, and vimentin. The Ki-67 labeling index of the cancer cells was 60–80%. Direct sequencing revealed that the cancer cells contained a missense mutation (c.730G>A) in the TP53 gene.ConclusionMucinous differentiation in high-grade serous carcinoma is a rare and unique ovarian tumor phenotype and it mimics the phenotypes of mucinous or seromucinous carcinoma. To avoid the misdiagnosis, extensive histological and immunohistochemical analyses should be performed when pathologists encounter high-grade mucin-producing ovarian carcinoma. The present case shows that the unusual histological characteristic of high-grade serous carcinoma, the “SET” feature, could be extended to the solid, transitional, endometrioid and mucinous-like (STEM) feature.

Demons meigs’ syndrome secondary to begnin brenner tumor with high ca125 plasmatic level: first case described in kara teaching hospital

To report the first case of Demons-Meigs’ syndrome secondary to benign Brenner tumor with high CA125 plasmatic level managed in kara teaching hospital. A 40-year-old female patient was admitted with a 6-month history of abdominal distension. Clinical examination found abdomino-pelvic mass and declive dullness. Abdominal ultrasound found heterogeneous abdomino-pelvic mass of 180 mm in length and a large free ascites. Pelvic computorized tomography scan found heterogeneous extra-uterine mass of 180 mm in length, large ascites without pelvic or lombo-aortic lymphadenopathy or tumoral extension. Front thorax X-ray found bilateral pleural effusion; CA125 plasmatic level was 1138 IU/ml. Median laparotomy allow to aspire 2 liters of ascitic fluid and to perform left adnexectomy. Histological examination of surgery sample diagnosed begnin ovary Brenner tumor. Outcome after surgery was without complications with disappearance of ascites and pleural effusion, and CA125 plasmatic level back to normal value. Demons-Meigs’ syndrome is a rare benign ovarian tumor whose symptoms looks like ovarian cancer. Its fundamental characteristic is the disappearance of symptoms after ovarian tumor removal.

Primary Ovarian Small Cell Carcinoma of Pulmonary Type: Analysis of 6 Cases and Review of 31 Cases in the Literatures

ObjectivePrimary ovarian small cell carcinoma of pulmonary type (SCCOPT) is a rare ovarian tumor with a poor prognosis. The platinum-based chemotherapy is the standard treatment. However, there is little research on the clinical characteristics of SCCOPT and the potential benefits of other treatments due to its low incidence. The study aims to investigate clinicopathological characteristics and treatment of SCCOPT. MethodsWe summarized the clinical, imaging, laboratorical and pathological characteristics of 37 SCCOPT cases, in which 6 cases were admitted to the Gansu Provincial Hospital from the year of 2008 to 2022 and 31 cases reported in 17 English and 3 Chinese literatures. ResultsThe median age of the studied SCCOPT cases (n=37) was 56.00 (range, 22–80) years. Almost 80% of them had a stage III or IV tumor. All patients underwent an operation and postoperative chemotherapy. Nevertheless, all cases had a poor prognosis, with a median overall survival time of 12 months. Immunohistochemically, the SCCOPT of all patients showed positive expressions of epithelial markers, such as CD56 and sex-determining region of Y chromosome-related high-mobility-group box 2 (SOX-2), and negative expressions of estrogen receptor, progesterone receptor, vimentin, Leu-7, and somatostatin receptor 2. The tumor of above 80% cases expressed synaptophysin. Only a few cases expressed neuron-specific enolase, chromogranin A, and thyroid transcription factor-1. ConclusionsSCCOPT had a poor prognosis. SOX-2 could be a biomarker to be used to diagnose SCCOPT.

Solid ovarian masses: Lessons and pitfalls

Solid ovarian masses have a higher risk of malignancy compared to other tumour types. In this lecture, we will discuss the ultrasound features of the most common benign solid ovarian tumour, i.e. the fibroma of the ovary, and more rare solid ovarian tumours, including metastases, Brenner tumours and non-epithelial ovarian tumours.

Ovarian fibrosarcoma: Case report of a rare lesion

Ovarian fibrosarcoma is an extremely rare ovarian neoplasm and much rarer in the young. We present the case of a 35-year-old Nigerian woman who presented with ovarian mass with histologic and immunohistochemical profile in keeping with fibrosarcoma. She had an uneventful surgery and had postoperative chemotherapy with a combination of carboplatin and paclitaxel. She is currently on follow-up at the gynecology clinic.

938PD - Need for a stratified analysis in stage I malignant ovarian germ cell tumors (MOGCT): Prospective survival analysis of cases collection from the French rare malignant ovarian tumors (TMRO) network & GINECO group

938PD - Need for a stratified analysis in stage I malignant ovarian germ cell tumors (MOGCT): Prospective survival analysis of cases collection from the French rare malignant ovarian tumors (TMRO) network & GINECO group

Abstract B46: DICER1 and FOXL2 mutations correlate with clinicopathologic features of ovarian Sertoli-Leydig cell tumors

Abstract Sertoli-Leydig cell tumors are rare mixed ovarian sex cord-stromal neoplasms consisting of a mixture of Sertoli cells, Leydig cells, and occasionally heterologous elements or retiform differentiation. The only known recurrent genetic abnormality is mutations in DICER1, with rare mutations reported in FOXL2. We set out to determine the DICER1 and FOXL2 mutation status in a series of 51 SLCTs with the goal of establishing a molecular classifier using mutation status and clinicopathologic features. Five tumors were well differentiated, 39 moderately differentiated, and 7 poorly differentiated. Nine tumors had heterologous elements (8 epithelial, one mesenchymal), and four showed retiform differentiation; all of these were moderately differentiated. DICER1 mutations were identified in 16/45 of successfully genotyped tumors (36%, 15 moderately differentiated, 1 poorly differentiated), including 7 with heterologous elements and 3 of 4 with retiform differentiation. FOXL2 c.402C>G mutation was identified in 10/51 tumors (20%, 8 moderately differentiated, 2 poorly differentiated). DICER1 and FOXL2 mutations were mutually exclusive. Median age for the entire cohort was 44 years (range 15-90). Patients with DICER1 mutations were younger (median 23.5 years, range 15-62) than patients with neither DICER1 nor FOXL2 mutation (median 41.5 years, range 16-74). Tumors with FOXL2 mutation occurred exclusively in postmenopausal patients (median 78 years, range 54-90), whereas 11/13 tumors with either heterologous elements (median 26 years, range 16-62) or retiform differentiation (median 38 years, range 18-57) occurred in premenopausal patients. Our data suggest the existence of at least three molecular subtypes of SLCT: DICER1 mutant (younger, moderately/poorly differentiated, including heterologous elements or retiform differentiation), FOXL2 mutant (postmenopausal, moderately/poorly differentiated, no heterologous elements or retiform differentiation), and DICER1/FOXL2 wild-type (no specific age, no heterologous elements, including all well-differentiated tumors). These findings suggest that well-differentiated and moderately/poorly differentiated SLCTs may be different histomolecular entities with different etiologies. Citation Format: Anthony N. Karnezis, Yemin Wang, Jamie Magrill, Jacqueline Keul, Stefan Kommoss, Basile Tessier-Cloutier, Lily Proctor, Dietmar Schmidt, C Blake Gilks, David G. Huntsman, Friedrich Kommoss. DICER1 and FOXL2 mutations correlate with clinicopathologic features of ovarian Sertoli-Leydig cell tumors. [abstract]. In: Proceedings of the AACR Conference: Addressing Critical Questions in Ovarian Cancer Research and Treatment; Oct 1-4, 2017; Pittsburgh, PA. Philadelphia (PA): AACR; Clin Cancer Res 2018;24(15_Suppl):Abstract nr B46.

Brenner tumor of the ovary - ultrasound features and clinical management of a rare ovarian tumor mimicking ovarian cancer.

To describe the ultrasound features of benign Brenner tumor in the background of complex clinical and histopathological pictures. We retrospectively identified patients with histologically confirmed benign Brenner tumor of the ovary who were treated in our institution in 2003-2016, and for whom complete imaging, clinical, perioperative and histopathological data were available in the database. Ultrasound findings were drawn from images and reports using terms and definitions of the International Ovarian Tumor Analysis group and pattern recognition description was applied. Twenty-three patients were identified, most postmenopausal and asymptomatic. On ultrasound, 19/23 tumors were found unilaterally, 4/23 bilaterally, and 82% of tumors were detected in the left ovary. Most Brenner tumors (16/23) contained solid components and revealed no or minimal blood flow by subjective color score upon Doppler examination (19/23, 83%). Calcifications with shadowing were observed in 57% of all Brenner tumors and in 81% of tumors containing solid components. The complex appearance of the tumor misled the sonographers to describe the mass as malignant in 9 cases (39%), and frozen section was performed perioperatively. Surgery was performed via laparoscopy in 11 (48%) and via laparotomy in 12 (52%) cases. The complexity of the ultrasound picture, consisting of features like calcifications with acoustic shadowing, a poorly vascularized solid mass, and a left-sided localization could be signs of a benign Brenner tumor and could preop-eratively help to differentiate between benign and malignant tumor.

DICER1 hot-spot mutations in ovarian gynandroblastoma.

Gynandroblastoma is a rare ovarian sex cord-stromal tumour characterised by the presence of both male (Sertoli and/or Leydig cells) and female (granulosa cells) components. We investigated the mutational status of DICER1, FOXL2 and AKT1 genes at hot-spot regions that are known to be the key driving events in the development of Sertoli-Leydig cell tumour (SLCT), adult granulosa cell tumour (aGCT) and juvenile granulosa cell tumour (jGCT), respectively, to gain insights into the molecular pathogenesis of gynandroblastoma. Sixteen cases of gynandroblastoma were studied. All contained SLCT or Sertoli cell tumour components. aGCT and jGCT components were identified in seven and 10 cases, respectively, with one presenting both components. Heterozygous hot-spot mutations in the RNase IIIb domain of DICER1 were discovered in three cases, including one case with heterologous mucinous elements, all of which were composed of moderately or poorly differentiated SLCT and jGCT components, and harboured the mutations in both histological components. None of the 16 cases displayed mutations at the p.C134W (c.402C→G) of FOXL2 or within the pleckstrin-homology domain of AKT1. All cases showed FOXL2 immunostaining in both male and female components. DICER1 hot-spot mutation is the key-driving event in a subset of gynandroblastomas containing components of SLCT and jGCT. Gynandroblastomas composed of SLCT and jGCT may represent morphological variants of SLCT. The molecular basis of gynandroblastoma containing a component of aGCT is different from pure aGCT.

The case of prenatal diagnosis of a germ cell tumor of the fetal ovary

A case of prenatal ultrasound diagnosis of a rare congenital ovarian tumor is presented. By ultrasound examination at 36–37 weeks of gestation the intra-abdominal mass 66  47  74 mm occupying the entire abdominal cavity was discovered. At 38 weeks of pregnancy spontaneous delivery occurred with girl weight 2840 g. On the eighth day after birth the child has been successfully undergone surgery. Histological examination revealed congenital germ-cell tumor with structures of dysgerminoma and yolk sac tumor.

Association of diabetes mellitus with an increased risk of recurrence and disease progression in women with ovarian granulosa cell tumors.

e17521Background: Granulosa cell tumors (GCTs) are a rare ovarian sex cord-stromal tumor. Diabetes is a predictor of GCT recurrence though data informing outcomes in racially diverse populations is...

A Rare Case of Concurrent Steroid Cell Tumor of Ovary with Struma Ovarii

1899 was the year when the description of struma ovarii was given for the very first time. This explanation was given by Boettlin. It was described as the rare ovarian tumor compromising thyroid tissue (Utsunomiya et al. in Clin Nucl Med 28(9):725–727, 2003). A lot of patients of struma ovarii present concurrently with thyroid cancer, and few cases have also been reported along with serous cystadenoma of ovary. Hereby, we present a rare case of struma ovarii in one ovary with steroid cell tumor in the other ovary.

Peritoneal Carcinomatosis of Rare Ovarian Origin Treated by Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy: A Multi-Institutional Cohort from PSOGI and BIG-RENAPE.

Ovarian cancer is the most common deadly cancer of gynecologic origin. Patients often are diagnosed at advanced stage with peritoneal metastasis. There are many rare histologies of ovarian cancer; some have outcomes worse than serous ovarian cancer. Cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC) can be considered for patients with recurrence. This study was designed to assess the impact of CRS and HIPEC on survival of patient with peritoneal metastasis from rare ovarian malignancy. A prospective, multicentric, international database was retrospectively searched to identify all patients with rare ovarian tumor (mucinous, clear cells, endometrioid, small cell hypercalcemic, and other) and peritoneal metastasis who underwent CRS and HIPEC through the Peritoneal Surface Oncology Group International (PSOGI) and BIG-RENAPE working group. The postoperative complications, long-term results, and principal prognostic factors were analyzed. The analysis included 210 patients with a median follow-up of 43.5months. Median overall survival (OS) was 69.3months, and the 5-year OS was 57.7%. For mucinous tumors, median OS and DFS were not reached at 5years. For granulosa tumors, median overall survival was not reached at 5years, and median DFS was 34.6months. Teratoma or germinal tumor showed median overall survival and DFS that were not reached at 5years. Differences in OS were not statistically significant between histologies (p = 0.383), whereas differences in DFS were (p < 0.001). CRS and HIPEC may increases long-term survival in selected patients with peritoneal metastasis from rare ovarian tumors especially in mucinous, granulosa, or teratoma histological subtypes.

Abstract #905 Postmenopausal Hyperandrogenism Caused by a Rare Ovarian Tumor

Abstract #905 Postmenopausal Hyperandrogenism Caused by a Rare Ovarian Tumor

Precise preoperative diagnosis of struma ovarii with pseudo-Meigs\u2019 syndrome mimicking ovarian cancer with the combination of 131I scintigraphy and 18F\u2013FDG PET: case report and review of the literature

BackgroundStruma ovarii is a rare ovarian neoplasm that often appears malignant on conventional imaging. Pseudo-Meigs’ syndrome with ascites, pleural effusion, and elevated serum CA 125 levels is much rarer and leads to misdiagnosis of ovarian cancer and unnecessary extended surgery.Case presentationA 50-year-old woman with abdominal distention and dyspnoea was referred to our hospital. Ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI) showed a polycystic ovarian tumor with a solid component, pleural effusion, and massive ascites with negative cytology. Her serum CA 125 level was 1237 U/ml, indicating the presence of ovarian cancer. Based on increased uptake of 131I but no uptake of 18F–FDG in the tumor, the preoperative diagnosis was struma ovarii with pseudo-Meigs’ syndrome, which was confirmed histologically. She had no evidence of ascites and pleural effusion six months after surgery.ConclusionsTo date, there have been no systematic reviews focused on preoperative diagnosis with imaging modalities. The combination of 131I scintigraphy and 18F–FDG PET/CT in addition to conventional imaging modalities can provide the precise preoperative diagnosis of struma ovarii with pseudo-Meigs’ syndrome mimicking ovarian cancer, leading to the appropriate treatment strategy.