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Juvenile Granulosa Cell Tumor (JGCT) represents 5% of all granulosa cell cancers. Precocious puberty is a frequent feature of this tumor. A 2-year and 2-month-old girl was referred with a diagnosis of suspected ovarian cancer, dysfunctional uterine bleeding, and precocious puberty. Radiologic examination revealed the following: Abdominal ultrasonography showed a solitary anechoic cystic lesion in the pelvic cavity. MRI confirmed the existence of solid components on its walls. JGCT was then confirmed using immunohistochemistry (IHC) markers. JGCT, along with adult granulosa cell tumors (AGCT) are subgroups of granulosa cell tumors (GCTs), which are part of pure sex cord tumors. The 2 forms share imaging findings due to their comparable gross appearance. GCTs require diagnostic imaging tests to distinguish them from other ovarian tumors. Two ultrasound patterns can be identified GCTs, and MRI showed that GCTs are more heterogeneous than other sex-cord stromal tumors (OSCs). In our case, the imaging characteristics for juvenile granulosa cell tumors were nonspecific and these tumors cannot be reliably distinguished from other ovarian neoplasms based on imaging alone. Although GCTs have imaging characteristics that can help to distinguish them from other tumors, confirmation by histopathology and IHC is still mandatory, especially in cases with nonspecific radiological features.

This is a case report of a 10-year-old with Ollier disease and an ovarian mass. Ollier disease, a rare disorder characterized by multiple enchondromas resulting in bone deformities, has been occasionally associated with ovarian juvenile granulosa cell tumor. This patient developed signs of precocious puberty and was found to have an ovarian tumor; however, pathology revealed a mixed sex-cord stromal tumor with components of juvenile granulosa and Sertoli-Leydig cell tumor. Tumor genomic testing revealed an IDH1 mutation. Mixed sex-cord stromal tumors of this type, also called "gynandroblastomas," have been associated with DICER1 mutations and DICER1 tumor predisposition syndrome but never with Ollier disease. Our findings expand the known spectrum of syndromic associations with this tumor type, with implications for tumor screening. [ABSTRACT FROM AUTHOR]

Predominantly androgen secreting juvenile granulosa cell tumors (JGCT) are uncommon and few reports have been published. We present a case of a JGCT that presented with signs of prepubertal hyperandrogenism and insulin resistance to highlight the possible interaction between hyperandrogenemia and hyperinsulinism. A 4-year-old girl presented with acanthosis nigricans and hyperinsulinism, mimicking the hyperandrogenism, insulin resistance and acanthosis nigricans syndrome at an age much younger than is typical for this diagnosis. Laboratory studies revealed elevated insulin, inhibin A and B, and total testosterone. All laboratory results normalized after unilateral salpingo-oophorectomy. The final diagnosis was Stage 1A JGCT. This case highlights the importance of including ovarian tumors in the differential diagnosis when considering causes of virilization and insulin resistance. This case also suggests a potential relationship between excess testosterone secretion and hyperinsulinemia and strengthens evidence that hyperandrogenemia may promote hyperinsulinism in ovarian disease.

Predominantly androgen secreting juvenile granulosa cell tumors (JGCT) are uncommon and few reports have been published. We present a case of a JGCT that presented with signs of prepubertal hyperandrogenism and insulin resistance to highlight the possible interaction between hyperandrogenemia and hyperinsulinism. A 4-year-old girl presented with acanthosis nigricans and hyperinsulinism, mimicking the hyperandrogenism, insulin resistance and acanthosis nigricans syndrome at an age much younger than is typical for this diagnosis. Laboratory studies revealed elevated insulin, inhibin A and B, and total testosterone. All laboratory results normalized after unilateral salpingo-oophorectomy. The final diagnosis was Stage 1A JGCT. This case highlights the importance of including ovarian tumors in the differential diagnosis when considering causes of virilization and insulin resistance. This case also suggests a potential relationship between excess testosterone secretion and hyperinsulinemia and strengthens evidence that hyperandrogenemia may promote hyperinsulinism in ovarian disease. [ABSTRACT FROM AUTHOR]

DICER1 syndrome is a rare genetic disorder predisposing young patients to multiple types of cancer. A 17-year-old woman with a history of mixed Sertoli-Leydig cell tumor and juvenile granulosa cell tumor of the left ovary at age 14 presented with a pelvic mass. She underwent fertility preservation cytoreductive surgery and the pathology showed high-grade sarcoma with rhabdomyosarcomatous differentiation. After the surgery, patient received one cycle of chemotherapy but her disease continued to progress. She therefore underwent total hysterectomy, right salpingo-oophorectomy and hyperthermic intraperitoneal chemotherapy followed by consolidation chemotherapy. Magnetic resonance imaging revealed no evidence of the disease before and after the completion of her chemotherapy. Genetic testing confirmed the DICER1 pathogenic variant. However, she presented again with a recurrence of the disease 6 months later and ultimately died of the disease 11 months after the surgery. Our case demonstrates the challenging management of this rare disease in a young patient and the need for new and effective treatments.

Objective: To report a case of stage IIIB juvenile granulosa cell tumor (JGCT) complicating pregnancy in a 33 year-old (y.o.) woman. Methods: Retrospective review of the clinical data, imaging studies, and pathology reports of a case of JGCT diagnosed during pregnancy. Patient consent was obtained for review and presentation of the case. A literature review was conducted. Results: A 33 y.o., gravida 3, para 1 was incidentally found to have an 8 cm left ovarian mass on an anatomy scan at 22 weeks gestation. Four days later, she presented to labor and delivery triage with abdominal pain. An ultrasound revealed an 11 cm heterogeneous, solid mass in the left adnexa and free fluid at this level. The diagnosis of degenerating fibroid was made based on her clinical presentation and she was discharged. A follow up outpatient MRI revealed a 15 cm left ovarian mass consistent with a primary malignant ovarian neoplasm with moderate ascites and omental, left cul de sac, and probable paracolic gutter implantation. She re-presented 2 weeks later with an acute abdomen and was admitted for a gynecologic oncology consult. Pre-op tumor markers showed an elevated inhibin B. She underwent an exploratory laparotomy, left salpingo-oophorectomy, omental biopsy, and small bowel resection at 25 weeks gestation. Intra-op findings included a ruptured tumor and metastases. Tumor reductive surgery was completed to R0. Pathology revealed a JGCT, FIGO stage IIIB. The pathology and management were reviewed in collaboration with an outside institution. Chemotherapy was delayed until after delivery with monthly MRI surveillance. She underwent induction of labor at 37 weeks followed by an uncomplicated vaginal delivery. She received 3 cycles of bleomycin, etoposide, and cisplatin starting six weeks postpartum. Last known contact was over five years after the initial diagnosis with no evidence of recurrent disease. Conclusion: JGCTs account for 5% of granulosa cell tumors and 3% are diagnosed after age 30. JGCT is an uncommon neoplasm in pregnancy. 90% are stage I at diagnosis, but advanced stage tumors are aggressive often resulting in recurrence or death within 3 years of diagnosis. We present a surgically treated case with delay in chemotherapy until after delivery with a good outcome after 5 years of follow up.

Prior case reports have described synchronous ovarian juvenile granulosa cell tumor (JGCT) and enchondromatosis in patients with Ollier disease and Maffucci syndrome. We present a case of a juvenile granulosa cell tumor with an IDH1 somatic mutation identified in the ovarian tissue in a 15-year-old female who presented with abnormal vaginal bleeding, several months of irregular menses, and a large multicystic adnexal mass. Multiple mixed lytic and sclerotic lesions were identified in the bones of the pelvis on imaging studies obtained during the work-up of her abdominal mass. Like previous reports in patients with undiagnosed enchondromatosis, these lesions were presumed to represent skeletal metastases; however, biopsy tissue revealed a hyaline cartilage neoplasm. Subspecialty review of the imaging findings revealed imaging features classic for Ollier disease involving the flat bones of the pelvis. It is important for radiologists to be familiar with the association between enchondromatosis and JGCT. When a female patient with enchondromatosis presents with a large, unilateral, mixed solid-cystic ovarian mass, the diagnosis of JGCT can be suggested. Alternatively, when a patient is diagnosed with JGCT, any skeletal lesions should be scrutinized for imaging features that suggest a hyaline cartilage neoplasm to avoid the misdiagnosis of skeletal metastases in a patient with previously undiagnosed Ollier disease or Maffucci syndrome. To our knowledge, this is the second reported confirmed case of an IDH1 somatic mutation identified in the ovarian tissue of a JGCT in a patient with Ollier disease. [ABSTRACT FROM AUTHOR]

Juvenile granulosa cell tumor (JGCT) of the ovary is an uncommon malignancy, with most cases seen in adolescent girls and young women. The majority of these patients present with unilateral ovarian disease, and to date, bilateral JGCTs have been reported in 10 cases. Although the histopathologic features have been detailed in the published literature, extensive extracellular mucin deposition has been documented in only one case. Herein, we report a 17-year-old adolescent girl with bilateral solid-cystic adnexal masses diagnosed as bilateral JGCT with abundant extracellular mucin deposition on histopathology. The index case highlights a rare clinical and histopathologic presentation of JGCT. Adequate knowledge of such unusual presentations is essential for accurate distinction from other ovarian tumors and appropriate management. [ABSTRACT FROM AUTHOR]

Background: Granulosa cell tumors (GCTs) are rare neoplasia that account for less than 5 % of all the ovarian tumors. Juvenile GCT histotype is generally observed in adolescent and young women, representing a very rare disease, so only a paucity of data are present in literature. The aim of this study is to analyse the oncologic and fertility outcome in our case series of juvenile GCTs., Methods: Clinicopathological data were retrospectively collected and analysed from a cohort of 30 patients ovarian juvenile GCTs treated at IRCCS San Gerardo dei Tintori Hospital, Monza, between 1980 and 2024., Results: The median age of disease onset was 21.5. Among patients enrolled in the study, 80.0 % (24/30) were stage I (16/26, 1/26 and 7/26 of stage IA, IB and IC, respectively), 6.7 % (2/30) were stage II and 13.3 % stage III (4/30). In 86.7 % (26/30) of patients, a fertility-sparing surgery was carried out, while 13.3.% (4/30) of patients underwent radical surgery. Adjuvant chemotherapy was administered in 20.0 % (6/30) of cases, while 80.0 % (24/30) were followed only with surveillance. Three patients in thirty (10.0 %) relapsed and died of disease despite multi-therapeutic approaches. All of them had advanced stages of disease at time of diagnosis., Conclusions: Juvenile GCT appears to have a good prognosis at stage I disease. However, advanced stage represents a hard challenge for clinicians, showing a high rate of relapse and mortality., Competing Interests: Declaration of competing interest The authors declare no conflict of interest., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

The objective of the study was to analyze the oncological outcomes and prognostic factors in patients with early-stage juvenile granulosa cell tumor (JGCT) who underwent fertility-sparing surgery. All patients with early-stage JGCT who underwent fertility-sparing surgery between January 1995 and December 2017 were reviewed retrospectively. None. The risk factors for recurrence and death in patients with early-stage JGCT were identified. Thirty-five patients were eligible for the current study. The median age was 17 years (range: 4-30 years), and 10 patients were premenarchal. Nine patients were International Federation of Obstetrics and Gynecology stage IA, and 26 were stage IC. Eight subjects underwent complete staging, whereas 28 had no staging at their initial surgery. In those without initial staging, 3 patients who received initial unilateral salpingo-oophorectomy (USO) and 6 with initial cystectomy underwent secondary surgery for staging or USO with staging, respectively. At the time of the secondary staging operation, 1 of the subjects (treated with USO at initial surgery) was found to be stage III and was excluded from this study. Therefore, 8 patients underwent secondary staging surgery performed by laparoscopic surgery, and none of them suffered recurrence during follow-up. Fourteen of the 16 patients with complete staging surgery underwent lymphadenectomy, and none of them had lymph node metastasis. Thirty-one patients received adjuvant chemotherapy after surgery. Eight patients had disease recurrence after a median follow-up time of 51 months (range: 6-229 months), with a median time to recurrence of 4.5 months (range: 2-52 months). Six patients died of their disease. The 5-year disease-free and overall survival rates were 74.8% and 84.3%, respectively. Univariate analysis showed that incomplete staging surgery was associated with increased risk of recurrence (P = 0.029). Adjuvant chemotherapy was not associated with disease-free survival. Four patients had a total of 6 pregnancies, resulting in 6 live births. Complete surgical staging is recommended for early-stage JGCT, but lymph node dissection can be omitted. Laparoscopic restaging surgery is feasible for patients with incomplete staging at initial surgery. However, the prognosis of patients with relapsed JGCT remains poor. [ABSTRACT FROM AUTHOR]

Juvenile granulosa cell tumor (GCT) is a rare ovarian tumor in children, presenting with a multiloculated cystic pattern and irregular wall-thickening on imaging and serous cystadenoma (SCA) is also another rare benign cystic ovarian tumor in children. The appearance of two uncommon types of ovarian tumors on both sides in children is extremely rare. We report the case of a 4-year-old female presenting with symptoms of precocious puberty and diagnosed with juvenile GCT on the left ovary after surgical resection. However, during follow-up 1 year after GCT resection, she presented with another multiloculated cystic mass in the right ovary, and diagnosed as SCA after surgical resection and histopathologic evaluations. The appearance of cystic ovarian tumor after primarily GCT resection need to differentiate between the recurrence of the primarily GCT and other cystic ovarian tumors although it is very uncommon. Furthermore, the imaging features played a key role in the differential diagnosis between benign and malignant ovarian tumors.

Juvenile granulosa cell tumor is a rare tumor diagnosed in children, which can present with precocious puberty. We have reported a case of a 6-month-old female patient who presented with precocious puberty. Abdominopelvic imaging revealed a large mixed cystic and solid mass, with internal solid enhancement, and restricted diffusion. At surgery, mass was confirmed to arise from the left ovary, and histopathology confirmed juvenile granulosa cell tumor. We provide a literature review of juvenile granulosa cell tumor and discuss imaging characteristics of this diagnosis.

Introduction: Anaplastic variant of juvenile granulosa cell tumor is one of the rarest ovarian malignancies. The aim of this study is to describe a case of anaplastic variant ovarian granulosa cell tumor in a 14-year-old girl with presentation of abnormal uterine bleeding and gradual abdominal enlargement. Case presentation: The patient at the time of diagnosis with an inhibin A and B more than 500 Pg/ml and ovarian mass of about 30×20×15 cm underwent unilateral salpingo-oophorectomy and juvenile granulosa cell tumor was diagnosed with no follow-up. She has referred with ascites, recurrent mass and distance metastasis of liver after 10 months. The patient underwent four courses of BEP (Bleomycin, Etoposide, Cisplatin)and five courses of paclitaxel and carboplatin. Then, she underwent laparotomy for metastasectomy, which was not successful due to the extent of involvement. Eventually, she died six months after the second surgery. Conclusion: This case report confirms the need for accurate follow-up of patients with juvenile granulosa cell tumor and appropriate justification for the patient and their caregiver to prescribe needed adjuvant therapies to prevent recurrence.

Background: Pregnancy complicated with juvenile granulosa cell tumor (JGCT) is very rare; thus, the experience on clinical diagnosis and management is limited. Cases: Two patients presented with abdominal pain, two were incidentally discovered, one by ultrasonography, and one during a caesarian section. One case received an emergency caesarian section because of tumor rupture at 38th week's gestation, the rest were treated at full term and no abnormalities were detected in the newborns. Three cases received further staging surgery, two of which received postoperative adjuvant chemotherapy. No patient had recurrent disease after a follow-up period spanning from 13 to 57 months. Conclusion: In the absence of emergency, surgery can be delayed without affecting the fetus. More research is needed to determine the value of chemotherapy in FIGO stage I patients. [ABSTRACT FROM AUTHOR]

Background: Gynecologic sex cord‐stromal tumors (SCSTs) arise from sex cords of the embryonic gonad and may display malignant behavior. We describe the cytomorphologic features of SCSTs in females, including adult and juvenile granulosa cell tumors (AGCTs and JGCTs), Sertoli‐Leydig cell tumors (SLCTs), and steroid cell tumors (SCTs). Methods: We retrieved available cytology slides from females with a histologic diagnosis of sex cord‐stromal tumor between 2009 and 2020 from institutional archives and reviewed their cytoarchitectural features. Results: There were 25, 2, 2, and 1 cytology specimens from 19, 2, 2, and 1 patients (aged 7‐90 years, median 57 years) with AGCT, JGCT, SLCT, and SCT, respectively. Features common to all SCSTs included 3‐dimensional groups, rosettes, rare papillary fragments, abundant single cells and naked nuclei. Rosettes and a streaming appearance of cell groups were only seen in AGCTs, which also rarely featured eosinophilic hyaline globules and metachromatic stroma. AGCTs exhibited high nuclear:cytoplasmic (N:C) ratios, with mild nuclear pleomorphism, uniform nuclei with finely granular chromatin, nuclear grooves and small nucleoli; in contrast, other SCSTs lacked rosettes and nuclear grooves and had generally lower N:C ratios, greater nuclear pleomorphism, coarse chromatin and more abundant cytoplasm. Mitotic figures, necrosis, and inflammation were rarely identified. Conclusions: AGCTs show cytomorphologic features that are distinct from those of other SCSTs. Careful evaluation of the cytological features and ancillary studies (eg, immunochemistry for FOXL2, inhibin and calretinin, or sequencing for FOXL2 mutations) can aid in the accurate diagnosis of these tumors. Adult granulosa cell tumors show cytomorphologic features that are distinct from those of other types of sex cord‐stromal tumor, including microfollicular structures, eosinophilic hyaline globules, and longitudinal nuclear grooves in tumor cells. Careful evaluation of the cytologic features and ancillary studies (eg, immunochemistry for FOXL2, inhibin, and calretinin, or sequencing for FOXL2 mutations) can aid in accurate diagnosis of these tumors. [ABSTRACT FROM AUTHOR]

We present the case of an adolescent female patient with gender dysphoria (GD) who was diagnosed with a recurrent ovarian neoplasm – juvenile granulosa cell tumor (JGCT). The 17-year-old female patient presented multiple endocrine pathologies and a recurrent JGCT. During the surgery qualification process, the patient admitted having identified herself as a male. The patient reported being uncomfortable with her body and with the expected roles of her assigned gender. Due to that, the patient requested a total hysterectomy with a bilateral salpingo-oophorectomy. As a minor, she required the permission of her parents, which was not granted. The patient underwent several specialist consultations, after which she agreed to the unilateral removal of tumor-changed pathologies and additional hormonal, psychological, and psychiatric diagnostics. To the best of our knowledge, this is the first detailed report of co-occurrence of GD spectrum disorders and JGCT in an adolescent female. This case contains many therapeutic and ethical problems regarding both physical and mental health. It should be noted that adolescents with GD spectrum rarely develop persistent transsexuality. Modulations from developmental psychology, psychotherapy, family dynamics, hormonal treatment, and the removal of JGCT in the presented case may have potential therapeutic implications for GD.

Juvenile granulosa cell tumor (JGCT), which is one of the sex cord-stromal tumors of the ovary, is a rare malignancy of childhood. Juvenile type is a rare form that accounts for 5% of granulosa cell tumors. Isosexual precocious puberty is the most common presentation in prepubertal girls with juvenile granulosa cell tumors. Less frequently, they present with the complaint of a mass in the abdomen.We present an 8-year-old girl with a juvenile granulosa cell tumor who presented with sudden onset of abdominal pain and enlargement of the abdomen. She underwent exploratory laparotomy with right salpingo-oophorectomy and a complete mass resection was performed. Pathologic staging of the mass, which was diagnosed as juvenile granulosa cell tumor of the ovary, was determined as pT1c3, and our patient received four cycles of chemotherapy.

Juvenile Granulosa Cell Tumor (JGCT) represents 5% of all granulosa cell cancers. Precocious puberty is a frequent feature of this tumor. A 2-year and 2-month-old girl was referred with a diagnosis of suspected ovarian cancer, dysfunctional uterine bleeding, and precocious puberty. Radiologic examination revealed the following: Abdominal ultrasonography showed a solitary anechoic cystic lesion in the pelvic cavity. MRI confirmed the existence of solid components on its walls. JGCT was then confirmed using immunohistochemistry (IHC) markers. JGCT, along with adult granulosa cell tumors (AGCT) are subgroups of granulosa cell tumors (GCTs), which are part of pure sex cord tumors. The 2 forms share imaging findings due to their comparable gross appearance. GCTs require diagnostic imaging tests to distinguish them from other ovarian tumors. Two ultrasound patterns can be identified GCTs, and MRI showed that GCTs are more heterogeneous than other sex-cord stromal tumors (OSCs). In our case, the imaging characteristics for juvenile granulosa cell tumors were nonspecific and these tumors cannot be reliably distinguished from other ovarian neoplasms based on imaging alone. Although GCTs have imaging characteristics that can help to distinguish them from other tumors, confirmation by histopathology and IHC is still mandatory, especially in cases with nonspecific radiological features., (© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)

Juvenile granulosa cell tumors (JGCTs), account for 4–5% of GCTs, the rare sex cord stromal tumors. Presentation of JGCTs in infants is even rarer. We present case of a 3-month-old female infant with abdominal distension, feeding intolerance and fever of 10 days' duration. The child had gross abdominal distension causing visible respiratory distress. She also had signs of isosexual precocious puberty. Radiological evaluation was suggestive of left ovarian tumor. Left oophorectomy with preservation of the fallopian tube was done after hemodynamic stabilization. Histopathology evaluation of the tumor was suggestive of JGCT, which was confirmed on immunohistochemical evaluation. On 1 year follow-up, the child is stable, has achieved age-appropriate milestones and is tumor-free. Parents have been explained importance of regular follow-up to detect tumor recurrence. This is probably the youngest case of JGCT presenting with precocious puberty reported in literature so far.

Introduction GNAS mutations have been reported in both McCune-Albright syndrome (MAS) and juvenile granulosa cell tumors (JGCT) but have never been reported simultaneously in the same patient. Case Presentation A 15-year-old girl developed secondary oligomenorrhea. Laboratory studies revealed suppressed gonadotropin levels with markedly elevated estradiol and inhibin B levels. Pelvic ultrasound showed a 12-cm heterogeneous right adnexal mass; pelvic magnetic resonance imaging to further characterize the mass displayed heterogeneous bilateral femoral bone lesions initially concerning for metastatic disease. Positron emission tomography/computed tomography showed minimal 18F-fluorodeoxyglucose (FDG) uptake in the pelvic mass but unexpectedly revealed FDG uptake throughout the skeleton, concerning for polyostotic fibrous dysplasia in the context of MAS. The adnexal mass was excised and pathology confirmed a JGCT. The patient's affected bone and JGCT tissue revealed the same pathogenic GNAS p.R201C mutation, while her peripheral blood contained wild-type arginine at codon 201. Conclusion This mutation has been previously reported in cases of MAS and JGCT but never simultaneously in the same patient. This demonstration of a GNAS mutation underlying both JGCT and MAS in the same patient raises questions about appropriate surveillance for patients with these conditions. [ABSTRACT FROM AUTHOR]

Juvenile granulosa cell tumor (JGCT) is the most common type of sex cord stromal tumor arising from gonadal structures of children and young adults. We present a 3.5-year-old girl with JGCT located in retroperitoneum without ovarian involvement. Extragonadal occurrences of other sex cord stromal tumors have been rarely reported, but this is the first case of JGCT in an extragonadal location. We speculate the possible underlying mechanism of sex cord stromal tumor formation in extragonadal locations. Furthermore, clinical presentation, differential diagnosis and management of this tumor in childhood are discussed. [ABSTRACT FROM AUTHOR]

Predominantly androgen secreting juvenile granulosa cell tumors (JGCT) are uncommon and few reports have been published. We present a case of a JGCT that presented with signs of prepubertal hyperandrogenism and insulin resistance to highlight the possible interaction between hyperandrogenemia and hyperinsulinism. A 4-year-old girl presented with acanthosis nigricans and hyperinsulinism, mimicking the hyperandrogenism, insulin resistance and acanthosis nigricans syndrome at an age much younger than is typical for this diagnosis. Laboratory studies revealed elevated insulin, inhibin A and B, and total testosterone. All laboratory results normalized after unilateral salpingo-oophorectomy. The final diagnosis was Stage 1A JGCT. This case highlights the importance of including ovarian tumors in the differential diagnosis when considering causes of virilization and insulin resistance. This case also suggests a potential relationship between excess testosterone secretion and hyperinsulinemia and strengthens evidence that hyperandrogenemia may promote hyperinsulinism in ovarian disease., (©Copyright 2024 by Turkish Society for Pediatric Endocrinology and Diabetes / The Journal of Clinical Research in Pediatric Endocrinology published by Galenos Publishing House.)

This is a case with associated radiologic and intra-operative images for an infant who presented with hemoperitoneum and acute abdomen. Pre-operative imaging included abdominal ultrasound and computed tomography, which raised suspicion for a pelvic mass concerning for malignancy. These studies prompted diagnostic laparoscopy, which revealed a ruptured ovarian mass and allowed for appropriate surgical management with resection. Histopathology confirmed the diagnosis of juvenile granulosa cell tumor. Although an uncommon cause of acute abdomen in infants, juvenile granulosa cell tumor is important to include in the differential and promptly treat due to associated complications with delays in diagnosis and surgical management.

Abstract Background Ovarian granulosa cell tumors (GCTs) are divided into adult GCT (AGCT) and juvenile GCT (JGCT). The AGCT is more common type, conversely, less than 5% of tumors are the JGCT and occur in mainly premenarchal girls and in women younger than 30 years. Although JGCT have different histologic features compared to AGCT, the two types have similar imaging features because they have similar gross appearance. Therefore, it is difficult to distinguish two types by radiologic findings. In addition, it has not been described about the growth rate of JGCTs in past literatures. The aims of this report were to describe a case of rapidly growing JGCT arising in adult with difficulty in diagnosing and to review the literatures. Case presentation A 38-year-old woman, presented with abdominal distension and frequent urination, was found to have a pelvic mass measuring approximately 12 cm on ultrasonography. On magnetic resonance imaging (MRI), right ovarian multiloculated cystic mass accompanied with hemorrhagic foci was demonstrated. Although the presumptive diagnosis of GCT was made based on MR findings, the intraoperative differential diagnoses included GCT, yolk sac tumor or malignant mucinous tumor due to cytologic atypia and lack of the typical findings for AGCT such as nuclear grooves and Call-Exner bodies. As a result, abdominal simple total hysterectomy, bilateral oophoro-salpingectomy, partial omentectomy and appendectomy were performed. Moreover, she had a history of laparoscopic uterine myomectomy about one year before, and during that surgery bilateral ovaries were found to be macrospically normal. Therefore, it was suspected the tumor became enlarged within the short period of time. Conclusions Even though it is difficult to distinguish two types of GCT by imaging findings, in some cases without typical findings for AGCT pathologically, MRI could provide useful information in accurately diagnosing JGCT. Moreover, in this case, the tumor growth rate seemed to be rapid regardless of its borderline malignant potential. It may be related with nuclear atypia and high mitotic rate of the tumor.

Gynandroblastoma is an extremely rare sex cord-stromal tumor with both female (granulosa cell tumor) and male (Sertoli-Leydig cell tumor) elements. Juvenile granulosa cell tumors are also very rare and are so named because they usually occur in children and adolescents. A 71-year-old woman with right upper quadrant abdominal pain visited our hospital. Pelvic computed tomography showed a large multilocular cystic mass, suspected to be of ovarian origin. We performed a total abdominal hysterectomy (total abdominal hysterectomy was performed) with bilateral salpingo-oophorectomy. A 13-cm multilocular cystic mass with serous fluid was observed in her right ovary. Upon microscopic examination, the solid component of the mass showed both Sertoli-Leydig cell and juvenile granulosa cell differentiation, which we diagnosed as gynandroblastoma. Gynandroblastoma with a juvenile granulosa cell tumor component is extremely rare and, until now, only six cases have been reported in the English literature. We report the first gynandroblastoma with a juvenile granulosa cell tumor component diagnosed in an elderly patient, along with a literature review.

Secondary amenorrhea is not uncommon in the adolescent female population. There are multiple etiologies to consider, and a comprehensive evaluation is often pursued. Sometimes, however, despite a thorough workup, the diagnosis remains unclear. Here, we report an unusual cause of secondary amenorrhea in a 15-year-old girl. Our patient presented with secondary amenorrhea after a 4-year history of regular menstrual cycles. Her evaluation was notable for very low FSH and low estradiol but normal LH; pregnancy, adrenal, thyroid, prolactin studies, and brain magnetic resonance imaging scan did not reveal a cause of her amenorrhea. Her transabdominal ultrasound showed an enlarged right ovary, initially suggestive of a hemorrhagic cyst. Inhibin A and B were measured because of the persistently low FSH; these were found to be very elevated, concerning for an inhibin-producing tumor. The patient had surgical removal of her right ovary; pathology revealed a juvenile granulosa-cell tumor. Postoperatively, the patient had normalization of serum inhibin A and B and resumption of normal menstrual cycles. This report illustrates that careful consideration of laboratory findings and other studies is essential for correctly identifying the underlying cause of secondary amenorrhea, particularly when the results are not consistent with common causes of this condition. [ABSTRACT FROM AUTHOR]

Objective: To explore the clinical and pathologic features of ovarian juvenile granulosa cell tumors (JGCTs).Methods: Clinical data, histopathologic observations, immunohistochemical results, FOXL2 mutation status, and follow-up information of 7 JGCT cases were studied.Results: The patients most commonly presented with abdominal distension and pain (5 cases), followed by precocious puberty (1 case) and a pelvic mass (1 case). Six patients had stage I disease, and 1 had stage IV disease. The microscopic examinations typically showed lobular growth punctuated by variably sized and shaped follicles. Rare features included a reticular-cystic appearance mimicking a yolk sac tumor (2 cases), a lobular appearance similar to a sclerosing stromal tumor (1 case), strands and cords (1 case), pseudopapillary appearance (2 cases), spindle cell appearance (1 case), microcystic appearance (1 case), hobnail cells (1 case), and rhabdomyoid cells (1 case). No FOXL2 mutation was encountered. After a median follow-up of 53 months, only 1 patient with a strongly diffuse TP53-positive tumor died of the disease, and 2 successfully had babies.Conclusions: JGCT is a rare neoplasm with a wide morphologic spectrum and is easily confused with other tumors. Familiarity with the characteristics, rare atypical appearances, and immunohistochemical results may aid in obtaining a correct diagnosis. [ABSTRACT FROM AUTHOR]

We present the case of an adolescent female patient with gender dysphoria (GD) who was diagnosed with a recurrent ovarian neoplasm – juvenile granulosa cell tumor (JGCT). The 17-year-old female patient presented multiple endocrine pathologies and a recurrent JGCT. During the surgery qualification process, the patient admitted having identified herself as a male. The patient reported being uncomfortable with her body and with the expected roles of her assigned gender. Due to that, the patient requested a total hysterectomy with a bilateral salpingo-oophorectomy. As a minor, she required the permission of her parents, which was not granted. The patient underwent several specialist consultations, after which she agreed to the unilateral removal of tumor-changed pathologies and additional hormonal, psychological, and psychiatric diagnostics. To the best of our knowledge, this is the first detailed report of co-occurrence of GD spectrum disorders and JGCT in an adolescent female. This case contains many therapeutic and ethical problems regarding both physical and mental health. It should be noted that adolescents with GD spectrum rarely develop persistent transsexuality. Modulations from developmental psychology, psychotherapy, family dynamics, hormonal treatment, and the removal of JGCT in the presented case may have potential therapeutic implications for GD. [ABSTRACT FROM AUTHOR]

Objective: Ovarian juvenile granulosa cell tumor has an interesting association with multiple enchondromatosis (Ollier disease and Maffucci syndrome) and should be considered a leading diagnosis when an ovarian mass is found in young patients with these conditions. Besides the association with nonskeletal malignancies, there is a high risk of malignant transformation of enchondroma in chondrosarcoma as was also the case in this instance. Case Report: The report uses multiple images to document the representative and characteristic markers of multiple enchondromas in a 22-year-old patient with Ollier disease complicated by malignant transformation of chondrosarcoma and in whom the disease is associated with ovarian juvenile granulosa cell tumor of the right ovary. Conclusion: It is important to recognize that when the female patient presents with enchondromatosis and a large unilateral multilocular-solid ovarian mass, the specific diagnosis of granulosa cell tumor can be made with high accuracy.

Prepubertal primary testicular tumors account for ∼1% of all pediatric solid tumors. We report a new case of prenatal diagnosis of juvenile-type granulosa cell tumor (JGCT). A fetal ultrasound performed at the 38th week of gestation for suspected nonvertex presentation identified a left multilocular septated cystic testicular mass, suggestive for JGCT. At birth, a painless left scrotal mass was detected. Ultrasound re-evaluation excluded torsion of the testis. Tumor markers and abdominal ultrasound were normal for age. Inguinal exploration revealed a cystic mass beneath the tunica albuginea that had replaced all the normal parenchyma. Since organ-sparing surgery was thus not feasible, an orchiectomy was performed and diagnosis of JGCT was confirmed. At 7-year follow-up, the child presented an uneventful outcome. Our case shows that neonatal JGCT, which has an intrauterine genesis, can be diagnosed prenatally by ultrasound in the last weeks of pregnancy.

Testicular tumors apart from those in the germ cell family are uncommon and are mostly sex cord-stromal tumors and may pose a major diagnostic challenge. This review focuses on the clinicopathologic features of these uncommon neoplasms, pertinent differential diagnoses, relevant immunohistochemical and molecular findings as well as the recent updates proposed by the World Health Organization (WHO). Contrast between these neoplasms as seen in the male and female gonad will also be made when warranted. The commonest sex cord-stromal tumor of the testis is the Leydig cell tumor which, when seen in children, is often associated with sexual precocity. The histologic features are generally those of an easily recognized oxyphilic neoplasm but various peculiarities such as microcysts and spindling of the tumor cells may case diagnostic difficulty on occasion. In the male, in contrast to the female, the most common sex cord-stromal tumor of epithelial nature is the Sertoli cell tumor. Most of these fall in the not otherwise specified category and are usually characterized by a diagnostically helpful at least focal hollow or solid tubular pattern. Occasional malignant Sertoli cell tumors have a predominantly diffuse pattern sometimes interrupted by septa with a lymphocytic infiltrate that can cause seminoma to be mimicked. Rare Sertoli cell tumors are associated with marked sclerosis. The so-called large cell calcifying Sertoli cell tumor, may be sporadic or associated with manifestations of the Carney syndrome. A distinctive entity referred to as intratubular hyalinizing Sertoli cell neoplasia occurs in the testis of young boys with Peutz-Jeghers syndrome. It is often bilateral, microscopic and associated with gynecomastia. Testicular granulosa cell tumors are much rarer than their ovarian counterparts but can be similarly subdivided into adult and juvenile forms. In the male, the juvenile granulosa cell tumor has a particularly striking tendency to occur in the first 6 months of life. The primitive appearance of the nuclei and brisk mitotic activity of the juvenile granulosa cell tumor may result in a misdiagnosis of a more malignant neoplasm. The histologic spectrum of the adult granulosa cell tumor is as seen in the more common female examples. Pure stromal tumors of the testis are much less common than similar tumors in the ovary and the well-known thecoma is remarkably rare in the testis. Fibromas of stromal derivation in the testis should be distinguished from fibromas that originate from the tunica albuginea and from examples of the non-neoplastic process nodular pseudotumor. [ABSTRACT FROM AUTHOR]

Juvenile granulosa cell tumor (JGCT), classified as a sex cord-stromal tumor, is a rare neoplasm. This is an instructive case report of JGCT accompanied by augmented interleukin (IL)-6 secretion. A 13-yearold girl with prolonged fever and delayed puberty was diagnosed with JGCT of the left ovary based on an imaging study and pathological investigation. Although it was not clear whether IL-6 was secreted from the tumor cells, her serum level of IL-6 was very high. After tumorectomy, the patient's symptoms immediately disappeared, her IL-6 level decreased, and she entered puberty. Therefore, augmented IL-6 secretion production induced by tumors should be considered a potential cause of prolonged fever and/or delayed puberty. [ABSTRACT FROM AUTHOR]

Juvenile granulosa cell tumor (JGCT) is an extremely rare ovarian tumor that has been associated with Maffucci syndrome. It both secretes hormone and has been postulated to grow in response to hormone. We present a case of a 33-year-old G1P0 asymptomatic woman with a history of Maffucci syndrome found to have a left adnexal mass on routine ultrasonography at 13 weeks gestation. This case demonstrates the sonographic and magnetic resonance imaging (MRI) features of JGCT, as well as the natural progression of the tumor during pregnancy. A follow-up ultrasound 3 weeks after initial diagnosis demonstrated marked growth in size and vascularity of the tumor, prompting unilateral salpingo-oophorectomy. Histopathological findings confirmed the diagnosis of JGCT. • Juvenile granulosa cell tumor (JGCT) is extremely rare in the general population, but it is a diagnosis that must be considered in patients with Maffucci syndrome and Ollier disease. • JGCT is hormonally sensitive and exhibit rapid growth during pregnancy, therefore, early diagnosis is vital. • Tumor markers have to be interpreted with caution during pregnancy. As a result, imaging plays an important role in the diagnosis of JGCT. [ABSTRACT FROM AUTHOR]

A unique Case of metachronous contralateral cystadenoma diagnosed 2 years after a juvenile granulosa cell tumor (JGCT) of the ovary is reported. One year after a left ovariectomy for JGCT, a 7 year-old girl was found to have, during her standard ultrasound follow-up, a 18-mm cyst in the right ovary, which was initially considered to be a follicular cyst. Six months later, the mass appeared to be increased and characterized by multivacuolar features, and inhibin A was mildly elevated. A laparoscopic-assisted cystectomy was performed, sparing healthy ovarian tissue around. The pathology report showed a benign mucinous cystadenoma. [ABSTRACT FROM AUTHOR]

We describe virilization in a newborn female secondary to bilateral congenital juvenile granulosa cell tumor (JGCT). The patient presented with abdominal mass and ambiguous genitalia at birth, and bilateral ovarian masses were discovered on further imaging. The patient underwent bilateral salpingo-oophorectomy in staged procedures, as it became apparent that we could not spare the ovaries. Diagnosis of JGCT was confirmed by surgical pathology. She required no adjuvant therapy and has no signs of recurrence at two-year follow-up.

Ovarian gynandroblastoma (GAB) is an extremely rare sex cord-stromal tumor showing morphological evidence of both female (granulosa cell tumor) and male (Sertoli–Leydig cell tumor (SLCT)) components. Almost all GAB cases have been reported in children, adolescents, or women of reproductive age, and most of them typically have adult granulosa cell tumors as the female component. In contrast, GAB with a juvenile granulosa cell tumor (JGCT) component is a very rare condition; to the best of our knowledge, only one case of GAB with JGCT in a postmenopausal woman has been reported. In this report, we present an extremely rare case of ovarian GAB with JGCT in an elderly patient. A 65-year-old woman presented with an abdominal mass. Abdominopelvic magnetic resonance imaging revealed a large multiseptated cystic mass measuring 20 cm. No peritoneal seeding, lymph node enlargement, or hematogenous metastasis was identified. Laboratory test showed a slight elevation of serum CA 125 level (37.1 U/mL). Based on the preoperative clinical impression of ovarian cancer, she underwent a total hysterectomy with bilateral salpingo-oophorectomy. Grossly, the ovarian mass had a smooth and glistening surface without excrescences. The cut sections showed yellow-to-tan solid areas with foci of necrosis, myxoid degeneration, and hemorrhage, as well as multilocular cystic cavities filled with serosanguinous fluid. Histologically, the female component was characterized by JGCT displaying nodular growth patterns with follicle-like structures of various shapes and sizes. Most of the microcysts contained eosinophilic or basophilic secretions. The JGCT cells had indistinct cell borders, an abundant eosinophilic cytoplasm, and round-to-oval hyperchromatic nuclei with many mitotic figures. The SLCT component consisted predominantly of intermediately differentiated Sertoli cells forming lobulated solid nodules. They were arranged in cords, solid tubules, or nests, and possessed oval-to-spindle-shaped darkly stained nuclei and scant cytoplasm. In several foci, well-formed Sertoli cell tubules were loosely aggregated within areas of moderately differentiated SLCT. In summary, we described GAB in a postmenopausal woman with JGCT and SLCT as the female and male components, respectively. This is the second case of GAB with JGCT occurring in an elderly patient. Our findings can help pathologists and clinicians make accurate histological diagnoses of GAB with a JGCT component and plan an adequate treatment strategy for this rare tumor.

Synopsis: Retroperitoneal recurrence after excision of a juvenile granulosa cell tumor is rare and constitutes a diagnostic challenge, presenting with nonspecific symptoms and mimicking other conditions. [ABSTRACT FROM AUTHOR]

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Background: Ovarian granulosa cell tumors are the most common sex-cord stromal tumors and have juvenile (JGCTs) and adult forms. In a previous study we reported the occurrence of activating somatic mutations of Gαs, which transduces mitogenic signals, in 30% of the analyzed JGCTs. Methods: We have searched for alterations in other proteins involved in ovarian mitogenic signaling. We focused on the PI3K–AKT axis. As we found mutations in AKT1, we analyzed the subcellular localization of the mutated proteins and performed functional explorations using Western-blot and luciferase assays. Findings: We detected in-frame duplications affecting the pleckstrin-homology domain of AKT1 in more than 60% of the tumors occurring in girls under 15 years of age. The somatic status of the mutations was confirmed when peritumoral DNA was available. The JGCTs without duplications carried point mutations affecting highly conserved residues. Several of these substitutions were somatic lesions. The mutated proteins carrying the duplications had a non-wild-type subcellular distribution, with a marked enrichment at the plasma membrane. This led to a striking degree of AKT1 activation demonstrated by a strong phosphorylation level and by reporter assays. Interpretation: Our study incriminates somatic mutations of AKT1 as a major event in the pathogenesis of JGCTs. The existence of AKT inhibitors currently tested in clinical trials opens new perspectives for targeted therapies for these tumors, which are currently treated with standard non-specific chemotherapy protocols.

Juvenile granulosa cell tumor (JGCT) is an uncommon ovarian tumor. There are only a few cases in the literature that depict the cytomorphology of JGCT at the primary/metastatic site. We described the fine-needle aspiration cytology of a recurrent metastatic JGCT of the anterior abdominal wall, 5 years post-surgery (total abdominal hysterectomy with bilateral salpingo-oophorectomy)., (© 2023 Wiley Periodicals LLC.)

A 5-year-old girl child presented with features of pseudoprecocious puberty in the form of bleeding per vaginum and bilateral breast enlargement since 10 days. The radiological imaging showed a right ovarian cyst and the biochemistry revealed elevated estradiol. With a provisional diagnosis of functioning ovarian lesion, a right-sided ovarian cystectomy and ovariotomy was performed, which showed features of cystic juvenile granulosa cell tumor.