Extraovarian Dysgerminoma Involving the Uterine Cervix: A Rare Case Report With Literature Review.

Primary extraovarian dysgerminoma (EOD) is a very rare disease. There is no literature about primary EOD involving the uterine cervix. We herein present details of a unique case of primary EOD involving the uterine cervix. A 46-year-old woman with uterine cervical tumor was referred to our institution with atypical genital bleeding. A polypoid tumor localized to the uterine cervix was found. Cervical biopsy detected malignant components of likely nonepithelial cell origin. Preoperative imaging examinations showed a uterine cervical tumor measuring ~5 cm, suggestive of malignancy without distant or lymph node metastases. The patient underwent abdominal radical hysterectomy with pelvic lymph node dissection according to the standard treatment for stage IB3 cervical cancers. The pathological diagnosis was dysgerminoma involving the uterine cervix and the right fallopian tube. Immunohistochemical results were as follows: SALL4 (+), octamer-binding transcription factor 4 (+), D2-40 (+), and c-Kit (+). She received 3 cycles of adjuvant chemotherapy with bleomycin, etoposide, and cisplatin. The disease did not recur up to 14 months after surgery. This is the first-ever published case of primary EOD involving the uterine cervix among previously reported EOD cases. Reported cases of EOD in female genital tract are also reviewed. Our case provides more extensive insights for pathologists to consider the differential diagnosis of cervical lesions. In our case, combination therapy involving a surgical approach-according to cervical cancers and adjuvant chemotherapy as used for ovarian dysgerminomas-was effective. Future verification is needed regarding the best approach for treating uterine cervical dysgerminomas.

A Perplexing Case of a Germ Cell Tumor: A Case Report.

Germ cell tumors (GCTs) are associated with pure gonadal dysgenesis or Swyer syndrome. Swyer syndrome usually presents with primary amenorrhea, streak ovaries, and mixed GCT. However, our patient presented with secondary amenorrhea, normal female external genitalia, and a mixed GCT. Constitutional karyotype was suggestive of 46,XY. Management comprised chemotherapy, followed by surgery. Histopathology was suggestive of dysgerminoma complicating a gonadoblastoma. The purpose of reporting this case is its rarity and the importance of diagnosing an XY karyotype, as the incidence of GCTs is higher in these patients.

Yolk sac tumor and dysgerminoma in the left gonad following gonadoblastoma in the right gonad in a 46,XY DSD with a novel SRY missense mutation: a case report.

BACKGROUND: Approximately 10-15% of 46,XY disorders of sex development (DSDs) have an SRY mutation residing in the high mobility group (HMG) domain. Here, we present a case of 46,XY DSD caused by a novel missense mutation in the HMG region of SRY rapidly progressing to germ cell tumors (GCTs). CASE PRESENTATION: An adolescent female (15 years old) exhibiting primary amenorrhea was later diagnosed as a 46,XY female with bilateral gonadal dysplasia on the basis of peripheral lymphocyte karyotype 46,XY and a novel missense mutation in SRY (c.281 T > G, p.L94R). The novel missense mutation (c.281 T > G, p.L94R) and its adjacent region were conserved. Protein structure analysis showed that the mutant site was located in the middle of the HMG domain, and the mutant protein had a diminished ability to bind to DNA. Imaging examination revealed an adolescent female with a naive uterus. Laparoscopy and initial pathological examination revealed left gonadal dysplasia and right gonadal dysplasia with gonadoblastoma (GB). Right gonadectomy by laparoscopy was performed upon consent from the patient's parents. Less than 1 year postoperatively, the left gonadal gland deteriorated as observed by the findings of a mass in the left adnexal region by pelvic MRI and serum AFP > 1000 ng/ml by serological tests, and then total hysterectomy and adnexal and left gonadectomy by laparoscopy were performed. The GCT stage was classified as stage Ic according to FIGO. At this time, pathologic examination showed that the left gonad had progressed to yolk sac tumor and dysgerminoma. The patient underwent chemotherapy post-operatively but developed type III myelosuppression and tumor recurrence several months later. CONCLUSIONS: The patient initially presented with right gonadoblastoma but chose only right gonadectomy by laparoscopy to preserve the female sex characteristics, which resulted in rapid deterioration of the left gonad and poor treatment outcomes. This case demonstrates the importance of early genetic diagnosis and treatment of 46,XY female DSD.

Dysfunctional labor and hemoperitoneum secondary to an incidentally discovered dysgerminoma: a case report.

BACKGROUND: Ovarian dysgerminoma, a subtype of malignant germ cell tumor (GCT), is a rare ovarian neoplasm that is infrequently found in the gravid patient. When dysgerminomas do occur in pregnancy, the rapidly growing tumors can have a heterogeneous presentation and lead to peripartum complications and morbidity. Due to the rarity of this condition, diagnostic and therapeutic strategies are not well described in the literature. CASE PRESENTATION: A healthy multigravida with an uncomplicated antenatal history presented for elective induction of labor. She had a protracted labor course, persistently abnormal cervical examinations, and eventually developed a worsening Category II tracing that prompted cesarean birth. Intraoperatively, a 26 cm pelvic mass later identified as a Stage IA dysgerminoma was discovered along with a massive hemoperitoneum. The mass was successfully resected, and the patient remains without recurrence 6 months postoperatively. CONCLUSION: Although rare and generally indolent, dysgerminomas can grow rapidly and cause mechanical obstruction of labor and other complications in pregnancy. Pelvic masses, including malignant neoplasms, should be included in as part of a broad differential diagnosis when evaluating even routine intrapartum complications such as abnormal labor progression. Additionally, we demonstrate that adnexal masses can be a source of life-threatening intraabdominal hemorrhage.

Tuberculosis and ovarian malignancy: Sometimes mimics, sometimes coexists.

Tuberculosis is a disease prevalent all over the world with India contributing to a larger share. Pulmonary tuberculosis presents with generalized symptoms of malaise, low grade fever and cough. On the other hand, genital tuberculosis presents with a variety of symptoms in each age group and is often underdiagnosed and missed. In an unmarried female, the usual presentations are menstrual complaints or presence of a solid cystic mass and ascites. In reproductive age group, patients may present with primary or secondary infertility or rarely with tubo-ovarian masses with peritoneal deposits, omental thickening and lymph node enlargement, hence mimicking ovarian carcinoma. In postmenopausal females, it can present as postmenopausal bleeding, leucorrhea or pyometra giving suspicion of endometrial carcinoma. We hereby report two cases operated with provisional diagnosis of ovarian malignancy but final histopathology ruled out malignancy in first and confirmed coexistence of malignancy and tuberculosis in another.

[Management of intra-abdominal dysgerminoma During pregnancy - A Case Report and Literature Review]. / Management Unterbauchraumforderungen in der Schwangerschaft ­ Fallbeschreibung eines extraovariell-intraabdominalen Dysgerminoms mit Überblick über die Literatur.

INTRODUCTION: Dysgerminomas are rare malignant germ cell tumors. They usually arise from the ovary, but case reports describing extraovarian dysgerminomas do exist. When treated adequately the disease has a good prognosis. Dysgerminomas diagnosed during pregnancy are very rare. METHODOLOGY: Report of extraovarian intra-abdominal dysgerminoma during pregnancy. Systematic literature review. CASE REPORT: A 35-year-old second gravida was diagnosed with a suspected intra-abdominal mass at 20 gestational weeks. During an exploratory laparotomy, a tumor infiltrating the transverse colon and histologically identified as a dysgerminoma was resected. Ovaries were clinically unremarkable. The induction of chemotherapy was postponed until after delivery. At 34 gestational weeks the patient underwent cesarean section and tumor debulking. Four cycles of bleomycin, etoposide and cisplatin were administered. After 12 months, cystic ovaries were found. Hysterectomy with bilateral adnexectomy was performed but no malignancy found. After 16 months, the patient was still in complete remission. CONCLUSION: We describe the first-ever published dysgerminoma in gravida primarily evolving intraabdominally and not affecting the ovaries. The decision for cytoreductive surgery, prolongation of pregnancy and postponing chemotherapy until after delivery combined the best benefit for the baby with a good maternal prognosis. Due to limited data regarding dysgerminomas in pregnancy, individual interdisciplinary concepts are mandatory.

Primary extragonadal vaginal yolk sac tumour: A case report.

INTRODUCTION: Yolk sac tumour (YST) or endodermal sinus tumour is rare and typically seen in gonads. CASE REPORT: We described a case of extragonadal vaginal YST in a one year and seven months old girl who presented with vaginal discharge and bleeding, and discuss its differential diagnosis and potential pitfalls in immunohistochemistry. She was found to have a suprapubic mass on examination. The serum alpha fetoprotein was 11919.4 ng/mL. Computed tomography of the pelvis revealed a large 6.4 cm heterogenous pelvic mass. Colposcopic examination of the pelvis showed a fungating vaginal mass that was subsequently confirmed as a yolk sac tumour. Immunohistochemically, the malignant cells were positive toward CKAE1/AE3, AFP and glypican-3, as well as CD117. DISCUSSION: Solid pattern extragonadal vaginal YST may morphologically resemble dysgerminoma that is also CD117 positive, while the glandular pattern YST may have clear cytoplasm and is positive for cytokeratin; hence, may resemble clear cell carcinoma. Being mindful of these potential diagnostic caveats is necessary to prevent misdiagnosis.

Misleading Diagnosis of Dysgerminoma in a Young Asymptomatic Patient.

Dysgerminomas account for approximately one third of all malignant ovarian germ cell tumors (tumors arising from ovarian germinal elements) and are the most common ovarian malignancy detected during pregnancy. They are the only germ cell malignancy with a significant rate of bilateral ovarian involvement that is 15-20 percent. They have a variable gross appearance, but in general are solid, pink to tan to cream colored lobulated masses. They have the best prognosis of all malignant ovarian germ cell tumor variants. Two thirds are stage I at diagnosis, and prognosis is excellent even for those with advanced disease due to exquisite tumor chemosensitivity. The 5 year disease specific survival rate approximates 99 percent. This is a case report of a huge ovarian dysgerminoma in a young unmarried lady that was quite asymptomatic. She underwent laparotomy with right ovarian cystectomy.

Two Cases of Hypercalcemia in Pediatric Ovarian Dysgerminoma.

OBJECTIVE: To discuss the finding of hypercalcemia in pediatric ovarian dysgerminoma. METHODS: Two cases of pediatric ovarian dysgerminoma that presented with hypercalcemia are discussed. RESULTS: Hypercalcemia is a rare finding in ovarian dysgerminoma. CONCLUSION: Ovarian dysgerminoma should be considered in pediatric patients presenting with signs of hypercalcemia. Parathyroid hormone, parathyroid hormone related protein, and 1,25 dihydroxyvitamin D may elucidate the cause of hypercalcemia.

Case Report: Use of Tumor and Germline Y Chromosomal Analysis to Guide Surgical Management in a 46, XX Female Presenting With Gonadoblastoma With Dysgerminoma.

Gonadoblastomas are rare mixed gonadal tumors that are almost always found in individuals with 46, XY karyotype or some other form of Y chromosome mosaicism. It is extremely rare to diagnose gonadoblastoma in phenotypically normal 46, XX females. Herein, we present a 20-year-old 46, XX female diagnosed with gonadoblastoma and dysgerminoma. Use of cytogenetic and molecular analyses to identify the presence of Y chromosome material in peripheral blood, gonadal, and tumor tissue can exclude mosaicism to provide reassurance to undertake conservative surgical management and preserve fertility.

Accuracy of intra-operative frozen section and its role in the diagnostic evaluation of ovarian tumors.

UNLABELLED: Summary OBJECTIVE: This retrospective study was undertaken to evaluate the accuracy and role of intra-operative frozen section in the diagnosis of ovarian tumors. MATERIALS AND METHODS: Retrospective study of 804 ovarian frozen section results between June 2010 and June 2014 was examined to determine the accuracy of frozen section diagnosis. The intra-operative frozen section diagnosis was compared with the permanent (paraffin) section and the overall accuracy, sensitivity, specificity, and positive and negative predictive values of the frozen section were studied. RESULTS: The overall accuracy to determine the status of malignancy was 92.6%. There were 38 (7.4%) false negative and no false positive frozen section diagnoses.The sensitivity, specificity, and positive predictive and negative predictive values for benign ovarian tumors were 100.0%, 97.0%, 91.3%, and 100.0%, respectively; for borderline tumors they were 64.3%, 97.0%, 91.5%, and 94.0%, respectively, and for malignant tumors they were 90.0%, 100.0%, 100.0%, and 85.5%, respectively. CONCLUSION: This study concluded that frozen section appears to be an adequate technique for the histopathological diagnosis of ovarian tumors, with some limitations observed among borderline and mucinous tumors.

[Malignant ovarian germ cell tumors. Current status of diagnosis and treatment]. / Tumores malignos de células germinales del ovario. Estado actual de su diagnóstico y tratamiento.

Malignant ovarian germ cell tumors (MOGCT) are extremely aggressive and rapidly growing neoplasms, with a peak incidence occurring in adolescent girls and young women. Its incidence in Mexico is three times higher than the observed in Western countries and the United States. Dysgerminoma, immature teratoma, yolk salc tumor, and mixed germ cell tumors make up more than 90% of all MOGCT.

Paraneoplastic neuromyelitis optica spectrum disorder associated with ovarian dysgerminoma: a case report and literature review.

Neuromyelitis optica spectrum disorder (NMOSD) is a clinical syndrome characterized by attacks of acute optic neuritis and transverse myelitis. We report a case with paraneoplastic NMOSD that improved after immunosuppressive therapy, surgical resection, and chemotherapy. A 48-year-old woman initially presented with gradual binocular visual loss over the course of one week. The patient was evaluated using magnetic resonance imaging (MRI), computed tomography (CT), visual evoked potential (VEP), pathological biopsy, immunohistochemistry, and autoimmune antibody testing. The brain MRI findings were normal. The VEP revealed prolonged P100 latencies in the right eye and an absence of significant waves in the left eye. Positive serum AQP4-IgG antibodies were found. The patient was diagnosed as NMOSD. Then the patient responded well to treatment with methylprednisolone. An ovarian tumor was found in the patient using abdominal MRI and CT. The tumor was surgically resected, and a pathological biopsy revealed that it was ovarian dysgerminoma. The patient received four rounds of chemotherapy after surgery. One month after the final chemotherapy treatment, a positron emission tomography (PET) scan revealed no tumor. The vision of the patient gradually recovered and serum AQP4 was negative. Furthermore, we summarized the characteristics of patients diagnosed with paraneoplastic NMOSD associated with ovarian neoplasms in previous studies. This is a characteristic case of overlapping NMOSD and ovarian dysgerminoma, demonstrating the importance of tumor therapy in cases of paraneoplastic NMOSD.

Pediatric ovarian dysgerminoma presenting with hypercalcemia and chronic constipation: a case report.

Malignancy-associated hypercalcemia is a common finding among adult malignancies. However, the incidence of malignancy-induced hypercalcemia associated with germ cell tumor among pediatric patients is very rare. We describe a 9-year-old girl with an ovarian dysgerminoma presenting with chronic constipation and hypercalcemia. We review some of the causes of malignancy-associated hypercalcemia described in literature and treatment strategies. We also recommend considering oncological processes in the presence of hypercalcemia.

Characteristics of diagnosis and therapy of adolescent malignant ovarian tumors.

BACKGROUND: To improve the early diagnosis rate of adolescent malignant ovarian tumors, avoid misdiagnosis, select proper therapy, avoid excessive therapy, and render therapy more tolerable. MATERIALS AND METHODS: A comprehensive review of adolescent malignant ovarian tumors, such as types, difficulties of early diagnosis, therapeutic principles, prognosis, fertility preserving through the authors' clinical experience, with reference to Chinese and international literatures. RESULTS AND CONCLUSION: The majority of adolescent malignant tumors are malignant germ cell, the malignancy is high and it is difficult to diagnose in the early stage, likely to be ignored. Their diagnosis is therefore fundamental, while selecting the most appropriate therapeutic approach that also considers fertility-sparing without compromising prognosis and avoiding over-treatment.

Ovarian dysgerminoma in an adolescent: a case report.

INTRODUCTION: Ovarian cancer is the second most frequent gynaecological cancer in Nigeria ranking next after carcinoma of the cervix. It has the highest case-fatality rate worldwide because of insidious onset, lack of effective screening methods and late presentation. This case of a sixteen-year old girl with a three-week history of abdominal pain which was later accompanied by abdominal swelling is a classic example of how dysgerminomas present. METHOD: The presumptive diagnosis of an ovarian tumour was made after physical examination and this was later confirmed by ultrasound scan. Urgent laparotomy was carried out based on a suspicion of torsion of the pedicle of the cyst. RESULT: At laparotomy, torsion of the pedicle with an intact capsule and imminent gangrene were found. The histology report revealed a malignant germ cell neoplasm (Dysgerminoma) with focal areas of necrosis without infiltration of the attached omentum. CONCLUSION: She had conservative surgery (left oophorectomy) done. She, however, defaulted from further follow-up.

Swyer Syndrome Presenting as Dysgerminoma: A Case Report.

Complete gonadal dysgenesis with 46,XY karyotype is a clinical condition characterized by the absence of testicular tissue but with the presence of typical Müllerian structures in a phenotypically female individual. The condition presents as primary amenorrhoea or delayed puberty. Eventually, malignant neoplasms may arise. We report a case of a 16-year-old Indian male with Swyer syndrome presenting with primary amenorrhoea and with an earlier diagnosis of a malignant dysgerminoma in the right ovary.