Mixed Sex Cord-stromal Tumors Research Articles

Oncological and endocrinological outcomes for children and adolescents with testicular and ovarian sex cord-stromal tumors. Results of the TGM13 National Registry.

Sex cord-stromal tumors (SCST) are hormonally active and rare. The aim was to describe their endocrinological presentation and outcomes. Patients (<19 years) registered in the TGM13 registry between 2014 and 2021 for SCST were selected. Sixty-three ovarian SCST (juvenile granulosa tumor (JGT) n=34, Sertoli-Leydig cell tumor (SLCT) n=17, other SCST n=12) were included. Median age was 13.1 years (0.4-17.4). Germline DICER1 pathogenic variant was present in 9/17 SLCT. Sixty-one were FIGO stage I (IC n=14). Adjuvant chemotherapy was administered for 15. Seven had recurrence (FIGO IA n=3, IX n=2, III n=2), leading to one death. With a median follow-up of 42 months (2.5-92), the 3-year progression-free survival (PFS) was 89% (95% CI 76%-95%). Median age was 6.4 years (0.1-12.9) among the 15 testicular SCST (Leydig cell tumor n=6, JGT n=5, Sertoli cell tumor n=3, mixed SCST n=1). Tumor-nodes-metastases (TNM) stage was pSI in 14. Eight underwent a tumorectomy, 7 an orchiectomy. None experienced recurrence. Endocrinological data were reviewed for 41 patients (18 prepubescent). Endocrine symptoms were present at diagnosis in 29/34 females and 2/7 males (gynecomastia). After a median follow-up of 11 months, 15 patients had persistent endocrine abnormalities: gynecomastia/breast growth (2 males, 1 prepubescent female), precocious/advanced puberty (4 prepubescent females), and hirsutism/menstruation disorders/voice hoarseness/hot flashes (8 pubescent females). The mean height at the last follow-up was within normal ranges (+0.3 standard deviation). SCSTs have a favorable prognosis. Tumorectomy appears safe with testicular primary. Endocrinological disorders, common at diagnosis, may persist warranting endocrinological follow-up.

Mixed sex cord-stromal tumor (gynandroblastoma) with malignant morphology involving both ovaries: a case report.

Mixed sex cord-stromal tumors, which consist of poorly differentiated Sertoli cells and Leydig cells and juvenile granulosa cell tumor tissue, are extremely rare. Most of these tumors are unilateral and stage I at the time of diagnosis; nonetheless, according to the available relevant English-language literature, these tumors maintain a malignant potential. We herein report a case involving a 15-year-old girl diagnosed with a mixed sex cord-stromal tumor (gynandroblastoma with juvenile granulosa cell tumor component). Left salpingo-oophorectomy was initially performed, and the diagnosis of a juvenile granulosa cell tumor was established. Right salpingo-oophorectomy was performed 1 year later, at which time the specimen showed a different growth pattern involving epithelioid cells and tubules, resembling a Sertoli-Leydig cell tumor. Immunohistochemical staining was performed and the specimen was compared with that obtained 1 year earlier. We concluded that the tumors were linked and most likely constituted a gynandroblastoma (mixed form of sex cord-stromal tumor). Although this is an extremely uncommon ovarian tumor, it should be considered when diverse tumor morphology is identified. Bilateral metachronous involvement of the ovaries is possible. The grade of the Sertoli-Leydig cell component may influence the prognosis of such a tumor.

SCLEROSING STROMAL TUMOR: AN INCIDENTAL FINDING IN PATIENT OF INFERTILLITY

Ovarian sex cord stromal tumors are infrequent and represents only 7% of all ovarian neoplasm. Cells of origin of these tumors are primitive sex cords or stromal cells. The stromal cells comprise of theca cells, fibroblasts and Leydig cells whereas the gonadal primitive sex cords include granulosa cells and Sertoli cells. According to recent WHO classification sex cord stromal tumors are further subdivided into pure stromal tumors, pure sex cord tumors and mixed sex cord stromal tumors. Here we are going to discuss a rare case of pure stromal tumors i.e., Sclerosing stromal tumor.

Rarity does not rule out the diagnosis-huge sex-cord stromal cell tumor of the ovary

Huge borderline ovarian tumors are rare in modern medicine because of the awareness, earlier medical consultation and available ultrasound facility even in rural area. Huge ovarian tumor with rapid growth in reproductive age group will lead the clinician towards a diagnosis of ovarian carcinoma. Ovarian sex cord-stromal tumours are a rare group of tumors and accounts for approximately for 7% of all ovarian tumors. A 44-year-old female presented with abdominal distension and pain. Her examination findings and investigation gave a probable diagnosis of ovarian carcinoma. Staging laparotomy and enucleation of tumor was performed en bloc. Histopathology revealed the tumor as mixed sex cord stromal tumor.

Pediatric Gynecologic Malignancy and DICER1: A Case Series That Further Elucidates the Phenotype [35H

INTRODUCTION: Pediatric gynecologic malignancies are rare and may be linked to genetic syndromes. DICER1 syndrome, an emerging entity first described in pleuropulmonary blastoma, was more recently identified as a hereditary tumor predisposition syndrome that can be associated with gynecologic malignancies. Gynecologic manifestations of DICER1 syndrome have been described in single or small case reports with an array of pathologic findings. We seek to better define tumor pathology that should prompt testing for DICER1. METHODS: An IRB approved, retrospective chart review was conducted for all female patients less than 25 years old with sex cord stromal tumors at our institution between 1990 and 2019. Patients were included if they had a diagnosis of DICER, Sertoli-Leydig tumor, rhabdomyosarcoma, gynandroblastoma, or mixed sex cord stromal tumor. RESULTS: We identified 21 patients meeting inclusion criteria. Histologic descriptions were noted to be similar across all tumor types with all but one having numerous similarities. Seventeen had genetic testing of any type, although not all were identified for DICER1 testing. Nine of these (53%) had a somatic or germline DICER1 mutation. CONCLUSION: DICER1 syndrome is not well known in the gynecologic community. Although the histology of these tumors is complex and variable, a clear pattern emerges from our series. We present this as a phenotype that should prompt testing for DICER1, as the implications of germline mutations are lifelong. Obstetrician/gynecologists play an important role in testing, surveillance and diagnosis of additional primary tumors as the risk begins with conception and continues throughout the lifespan.

A Rare Case of Extraovarian Mixed Sex Cord Stromal Tumor Presented as Broad Ligamentmass Synchronous Ovarian Mass Pathologic Pattern Reveals a Mix of Mesonephric and Muellerian Origin

A Rare Case of Extraovarian Mixed Sex Cord Stromal Tumor Presented as Broad Ligamentmass Synchronous Ovarian Mass Pathologic Pattern Reveals a Mix of Mesonephric and Muellerian Origin

Sex cord-stromal tumors of the ovary: a comprehensive review and update for radiologists.

Ovarian sex cord-stromal tumors are infrequent and represent approximately 7% of all primary ovarian tumors. This histopathologic ovarian tumor group differs considerably from the more prevalent epithelial ovarian tumors. Although sex cord-stromal tumors present in a broad age group, the majority tend to present as a low-grade disease that usually follows a nonaggressive clinical course in younger patients. Furthermore, because the constituent cells of these tumors are engaged in ovarian steroid hormone production (e.g., androgens, estrogens, and corticoids), sex cord-stromal tumors are commonly associated with various hormone-mediated syndromes and exhibit a wide spectrum of clinical features ranging from hyperandrogenic virilizing states to hyperestrogenic manifestations. The World Health Organization sex cord-stromal tumor classification has recently been revised, and currently these tumors have been regrouped into the following clinicopathologic entities: pure stromal tumors, pure sex cord tumors, and mixed sex cord-stromal tumors. Moreover, some entities considered in the former classification (e.g., stromal luteoma, stromal tumor with minor sex cord elements, and gynandroblastoma) are no longer considered separate tumors in the current classification. Herein, we discuss and revise the ultrasonography, computed tomography, and magnetic resonance imaging characteristics of the different histopathologic types and clinicopathologic features of sex cord-stromal tumors to allow radiologists to narrow the differential diagnosis when facing ovarian tumors.

Pediatric Sex Cord-Stromal Tumor with Composite Morphology: A Case Report

A 12-year-old female with developmental delay/mental retardation and a family history of gynecologic cancers presented with nonspecific abdominal complaints and was found to have a 4.5-kg, 25- x 23- x 15-cm pelvic mass with solid and cystic components and associated retroperitoneal and mesenteric lymphadenopathy. Laboratory studies revealed increased serum levels of CA-125 and inhibin B. Histologically, the tumor exhibited several different morphologic appearances including adult granulosa cell tumor, juvenile granulosa cell tumor (with areas of marked atypia), and Sertoli cell tumor. Immunohistochemically, the tumor was positive for calretinin, MIC-2 (CD99), S100 protein, PGP 9.5, and neuron-specific enolase. Electron microscopy of the Sertoli cell tumor-like areas showed Charcot-Bottcher filaments, a distinguishing feature of Sertoli cells. Together, these findings supported a diagnosis of mixed sex cord-stromal tumor including granulosa cell tumor of adult and juvenile types and intermediate- to high-grade Sertoli cell tumor, with large areas of markedly atypical sex cord-stromal tumor.