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Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive disease, affecting mainly patients of Slavic origin. It is caused by a defect in NBN gene, resulting in defective nibrin protein formation. This leads to chromosomal instability, which predisposes to cancer, with lymphoid malignancies predominating. Nibrin is also involved in gonadal development and its disfunction in females with NBS frequently results in a pure gonadal dysgenesis (PGD) causing hypergonadotropic hypogonadism. However, only a few ovarian tumors in NBS patients have been reported to date. We describe the first case of a girl with NBS with PGD, who developed metachronous bilateral ovarian germ cell tumors (dysgerminoma and gonadoblastoma). Pathogenesis of PGD, neoplastic transformation and therapeutic approach in females with NBS are discussed.

Germ cell tumours infrequently metastasise to body cavities, where early detection on fluid samples is possible and can spearhead early treatment and survival.A total of seven cases of metastatic germ cell tumours were retrieved out of 7500 effusion samples received for cytopathological examination from 2015 to 2021. Detailed cytological features of metastatic germ cell tumours in effusion samples were studied, along with a correlation between clinical, radiological, and histopathological features.A total of seven cases of metastatic germ cell tumours were analysed in effusion samples which included dysgerminoma (2), immature teratoma (2), yolk sac tumour (1), embryonal carcinoma (1), and mixed germ cell tumour (1). The smears showed predominantly discrete or loose clusters of cells. The cells with round nuclei and prominent nucleoli were helpful in detecting dysgerminoma and yolk sac tumours. Immature teratoma showed tiny groups of small cells and mature squamous cells. Serum tumour markers were raised in the majority of cases.Metastatic germ cell tumours in effusion are uncommon, but detailed clinical history, including serum markers and characteristic cytological features, are helpful in their diagnosis.

Terminal deoxynucleotidyl transferase (TdT) is a unique type of DNA polymerase predominantly expressed in precursor lymphoid cells and acute lymphoblastic leukemia. It participates in the junctional diversity of T-cell receptors and immunoglobulins. Recently, aberrant TdT expression was found in seminomas. Here, we evaluated the expression of TdT in our cohort of germ cell tumors (GCTs) with two anti-TdT antibody clones. We included 173 cases of testicular GCTs, 5 ovarian dysgerminomas, and one gonadoblastoma in the study. Tissue microarrays containing representative tumor samples were constructed and subsequently stained with anti-TdT monoclonal rabbit antibody EP266 (Dako) and TdT rabbit polyclonal antibody (Cell Marque). Expression was assessed with the H-score. No specific nuclear reaction was observed for the polyclonal anti-TdT antibody. The H-score values varied between the histological subtypes for the EP266 antibody. Positive nuclear staining was consistently seen in germ cell neoplasia in situ , seminoma, dysgerminoma, and embryonal carcinoma. Pure tumors had higher TdT H-scores than the mixed ones. Teratomas, yolk sac tumors, and choriocarcinomas were almost uniformly negative. Our study confirms that aberrant expression of TdT by testicular and ovarian GCTs exemplifies a potential diagnostic pitfall in histopathological diagnostics.

Germ cell tumors (GCTs) originate during the histogenesis of primordial germ cells to mature gametes. Previous studies identified five histogenic mechanisms in ovarian mature teratomas (type I: failure of meiosis I; type II: failure of meiosis II; type III: duplication of the genome of a mature gamete; type IV: no meiosis; and type V: fusion of two different ova), but those of other GCTs remain elusive. In this study, we analyzed 84 GCTs of various pathologic types to identify the histogenesis using single-nucleotide polymorphism array by analyzing copy-neutral loss of heterozygosity (CN-LOH) and copy number alterations (CNAs). We detected types I and II in ovarian teratomas, type III in ovarian teratomas and yolk sac tumors (YSTs), and type IV in all GCT types. The GCTs with multiple-type histogenesis (I-IV) (ovarian mature/immature teratomas and YST) show meiotic CN-LOH with scant CNAs. Type IV-only GCTs are either with mitotic CN-LOH and abundant CNAs (seminoma, dysgerminoma, testicular mixed GCTs) or with scant CNAs and no CN-LOH (pediatric testicular and mediastinal teratomas). The development sequences of CN-LOH and CNA are different between the multiple type (I-IV) GCTs and type IV-only GCTs. We analyzed two different histologic areas in eight GCTs (one mature teratoma with a mucin-secreting adenoma, two immature teratomas, and five mixed GCTs). We found that GCTs (mature teratoma, immature teratoma, and mixed GCT) showed different genomic alterations between histologic areas, suggesting that genomic differences within a GCT could accompany histologic differentiation. Of note, we found evidence for collision tumors in a mixed GCT. Our data indicate that GCTs may have various histogenesis and intratumoral genomic differences, which might provide important information for the identification of GCTs, especially for those with different histologic areas. © 2021 The Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

Malignant ovarian germ cell tumor (MOGCT) is a rare ovarian malignancy accounting for less than 5% of all ovarian cancers. We aimed to evaluate the incidence, survival, and subsequent malignancies after the diagnosis of MOGCT.Data from the Korea Central Cancer Registry were used to identify MOGCTs between 1999 and 2017. The age-standardized rates (ASRs), 5-year relative survival rates (RSR) and standardized incidence ratio (SIR) for subsequent cancer after diagnosis of MOGCT were estimated.Of 2125 cases of newly diagnosed MOGCTs, 596 (28.0%) were diagnosed with dysgerminoma and 1529 (72.0%) with non-dysgerminoma. The ASR per 100,000 women-years was 0.539; ASR slightly increased over the study period (annual percent change [APC] = 1.01%; p = 0.02). There was an increase and decrease in the incidence of MOGCTs in the age groups 0-19 years (APC = 1.96%; p0.01) and ≥ 50 years (APC = -6.51%; p0.01), respectively. Patients with dysgerminoma showed significantly higher RSR than patients with non-dysgerminoma (98.0% vs. 94.9%, p0.01). Patients aged ≥50 years showed worst 5-year RSR (68.7%) than patients aged 0-19 years (97.8%) and 20-34 years (96.4%) (p0.01). The overall SIR for a subsequent cancer occurrence was 2.07, with the most frequent site of subsequent primary cancer being the thyroid (SIR = 2.78).Our data demonstrated an excellent prognosis of MOGCTs among Korean women. There was a slight increase in MOGCT prevalence, which was more pronounced among those aged19 years. After MOGCT diagnosis, the risk of developing a subsequent malignancy was doubled compared with the general population.

One hundred fifty yolk sac tumors (YSTs) of the ovary in patients from 1 to 61 (mean: 21.5) years of age are described; 75% of the patients were in the second and third decades and only 1 was above 50 years of age. The clinical manifestations were typically related to a fast-growing adnexal mass; endocrine manifestations (hirsutism) were present in only 2 cases. The tumors were all unilateral and 70% were ≥15 cm; an associated dermoid cyst was present in 20 cases. The tumors were solid and cystic in 57% of the cases, 25% were multicystic, and 18% uniformly solid. The solid tissue was typically tan to pink or yellow and often friable with hemorrhage and necrosis; smaller solid neoplasms were sometime uniformly yellow. The most common histologic pattern was reticular composed of an irregular meshwork of spaces that was conspicuous in 68% of the neoplasms but present to at least a minor degree in all of them. That appearance almost always merged with small to large cysts that were prominent in about 40% of tumors. In 25% of the tumors, cysts sometimes associated with a cellular stroma (the polyvesicular pattern), were present but conspicuous in only half these cases. One third of the tumors had a labyrinthine pattern, 22% glands, and 6% a festoon pattern. Papillae with a central blood vessel (Schiller-Duval bodies) were seen in one-third of the tumors but were numerous in only 5% of them. Nonspecific appearing papillae were seen in 10% of the tumors. A solid growth of cells with pale cytoplasm was seen in one-third of the tumors but was conspicuous in only half of that subset. The solid appearance was typically reminiscent of that of dysgerminoma, but lacked the septa and lymphocytic infiltrate of that neoplasm. Nine tumors had a component of cells with scant cytoplasm resulting in a blastema-like appearance and 3 had cells with abundant clear cytoplasm. Cords and clusters of cells were common but did not dominate the microscopic appearance. The stroma typically had a nonspecific collagenous to edematous appearance. Stromal luteinization was seen in 12 tumors; in 5 this was likely due to the patient being pregnant. Two tumors had minor foci of cells that resembled hepatocytes. Hyaline bodies were seen in most of the tumors and were often conspicuous. The neoplastic cells typically had modest amounts of lightly staining cytoplasm and only mild nuclear pleomorphism. Cells lining cysts were often flattened sometimes resulting in a deceptively innocuous appearance. Many of the tumors (mostly consultation cases), caused diagnostic difficulty; tumors in the differential diagnosis included clear cell carcinoma, embryonal carcinoma, Sertoli-Leydig cell tumor, and juvenile granulosa cell tumor. The patient age and marked elevation of the serum alpha-fetoprotein level (if measured) is helpful in many of these considerations. The overtly malignant gross appearance of most YSTs contrasts with certain other tumors in the differential and the association of some YSTs with dermoid cyst and many clear cell carcinomas with endometriosis may be helpful. The vast majority of ovarian YSTs are dominated microscopically by merging of reticular and cystic patterns which, although focally mimicked by other neoplasms, are in general characteristic, and distinctive features of other neoplasms are absent. Immunohistochemistry, particularly for alpha-fetoprotein and glypican 3, and lack of staining for various markers of other neoplasms is helpful but overlap exists and these results must be considered in the context of the overall clinical, gross, and microscopic features. YSTs dominated by hepatoid and glandular features are rare and their categorization as YSTs should be done cautiously if thoroughly sampled tumors show no evidence of classic features of YST emphasized herein and first elaborated by the Danish investigator Gunnar Teilum whose seminal observations have stood the test of time.

Mixed germ cell tumours (MGCT) of the ovary are malignant neoplasms of the ovary comprising of two or more types of germ cell components. Most of the malignant MGCT consists of dysgerminoma accompanied by endodermal sinus tumours, immature teratoma or choriocarcinoma. There are only few case reports of MGCTs with different combinations of malignant components. We present a very rare case of malignant MGCT in a 05 years old female child, who presented with difficulty in defecation for 6 months, swelling over sacral region for 2 months, along with bilateral inguinal swellings and difficulty in urination for 1 week. Swelling was firm, non-mobile & non-tender measuring 6.6x5 cm. On cytology it was diagnosed as malignant germ cell tumour, which was confirmed on histology as malignant MGCT (predominantly yolk sac tumour >90% and embryonal carcinoma (

Background 46XY pure gonadal dysgenesis (Swyer syndrome) is a rare disorder of sexual development. Patients have a 46XY karyotype, though phenotypically they appear female with normal external genitalia and vagina. Although patients exhibit normal Mullerian structures (uterus, fallopian tubes, and vagina), they possess a pair of bilateral undifferentiated gonad streaks. Delayed puberty and primary amenorrhea are the common presentations. There is an increased risk of developing tumors in the gonads and therefore a bilateral gonadectomy is recommended. Case A 16-year-old girl who presented with primary amenorrhea was diagnosed with Swyer syndrome. She underwent prophylactic bilateral gonadectomy and salpingectomies. She was discovered to have no gonadal malignancy, conversely dysgerminoma solely within the fallopian tube. Summary and Conclusion Both bilateral salpingectomies and bilateral gonadectomies should be recommended as the operation of choice in patients with Swyer Syndrome.

We characterized the immunohistochemical expression profiles of dysgerminomas from a 16-y-old maned wolf and 13 domestic dogs using the following biomarkers: Sal-like protein 4 (SALL4), octamer-binding transcription factor 3/4 (OCT3/4), placental alkaline phosphatase (PLAP), c-kit, and vimentin. The maned wolf had nonspecific and long-standing clinical signs of lethargy, anorexia, and weight loss, and was euthanized because of poor prognosis. At autopsy, the left ovary was effaced by a 12 × 8 × 6 cm mass, comprised of anaplastic cells with a mitotic count of 20 mitoses in 10 high power fields. Dysgerminomas from 7 of 13 domestic dogs had nuclear expression of SALL4. Dysgerminomas from the maned wolf and 2 domestic dogs had both nuclear and cytoplasmic expression of SALL4. Cytoplasmic expression of PLAP and OCT3/4 was present in dysgerminomas from the maned wolf and 3 (PLAP) or 4 (OCT3/4) domestic dogs. All dysgerminomas expressed vimentin. Membranous c-kit expression was rare in the dysgerminoma from the maned wolf, and variable in dysgerminomas from 4 domestic dogs. A dysgerminoma from a domestic dog had cytoplasmic expression of c-kit. SALL4 is a useful marker to confirm germ cell origin of dysgerminoma in canids.

Dysgerminoma is a rare malignant neoplasm, associated with hormonal dysfunctions, which occurs in canine and feline females from middle age to elderly, without racial predisposition. In the present report, we described a case of ovarian dysgerminoma in a dog, only abdominal distension, persistent vulvar bloody discharge and apathy. The animal in question underwent exploratory laparotomy, where general neoformations were detected in the ovaries, and a lymph node with abnormal characteristics was also found. Therefore, surgery for ovariosalpingoisterectomy and puncture of a fragment of the lymph node altered for incisional biopsy was performed. The diagnosis was made through histopathological examination of the ovaries of the fragment derived from the lymph node, the result of which indicated the presence of dysgerminoma in both ovaries and in the lymph node, characterizing a metastasis. In view of this result, the chemotherapy protocol with the association of carboplatin and vinblastine was instituted, which proved to be effective and not very toxic to the animal, with no clinical sign of metastasis being identified after its use.

O disgerminoma é um o tumor de células germinativas maligno mais frequente no ovário, representa 1% de todos os tumores do ovário. Ocorrem na segunda e terceira década de vida. Em pacientes pré menarca apresenta-se com massa pélvica, comprimindo estruturas e órgãos, podendo se manifestar com um quadro de abdome agudo. Neste artigo, relata-se um caso de paciente com disgerminoma.

Sex cord tumor with annular tubules (SCTAT) accounts for approximately 2.3% of Sex cord stromal tumor (SCST) and is a relatively infrequently encountered, distinctive type of ovarian neoplasm. SCTAT is most commonly seen in females of reproductive age group. Peutz-Jeghers syndrome (PJS) may be associated with SCTAT in one-third of the patients. A 23 year old unmarried female presented with pain abdomen and mass per abdomen. Ultrasonography revealed a left adnexal mass. Considering clinical presentation and radiological findings, a differential diagnosis of teratoma/ dysgerminoma was given. Intraoperatively, a large left ovarian mass was noted. The mass was excised and sent for histopathology study. On microscopy, diagnosis of SCTAT was rendered. SCTAT are uncommon tumors with unique morphologic pattern. Our case was a non-syndromic case with no other features of PJS. Since 15-20% of non-syndromic cases can have a malignant course later in life, a long term follow up is required. Key message: Ovarian tumors at young age like SCTAT are very important to diagnose accurately as patient’s prognosis has to be weighed against preserving fertility and these tumors should be followed up for a long period. Keywords: Ovarian tumor, Peutz-Jeghers syndrome, Reproductive age group.

Embryonic carcinoma (EC) cells were the first pluripotent cells identified. These cells were derived from malignant germ cell tumors called teratocarcinomas. Embryonal carcinoma also affects young patients but is far less common than yolk sac tumor in the ovary and, when encountered, is always a component of a mixed germ cell tumor.1 Malignant germ cell tumors are subdivided into dysgerminoma and nondygerminomatous tumors. The most common types of nondysgerminomatous tumors are yolk sac and immature teratoma. Mixed germ cell tumors with embryonal carcinoma, nongestational choriocarcinoma, and polyembryoma are less common. Embryonal carcinomas, though rare, are one of the most malignant cancers arising in the ovary.2 In this case report, a 4,5-year-old girl was diagnosed with suspected embryonal ovarian carcinoma after complaints having menstruation for three months, develop pubic hair and breast. This patients later had laparotomy surgical staging and undergoing chemotherapy.

17α-hydroxylase/17,20-lyase deficiency (17-OHD), caused by mutations in the gene of the cytochrome P450 family 17 subfamily A member 1 (CYP17A1), is a rare type of congenital adrenal hyperplasia (CAH), usually characterized by cortisol and sex steroid deficiency combined with excessive mineralocorticoid. Gonadoblastoma is a relatively rare ovarian tumor that is frequently seen among patients with 46,XY gonadal dysgenesis. Rarely have they been reported in female patients with normal 46,XX karyotype. Here, we report an interesting case of an 11-year-old Chinese girl who presented acute abdominal pain that was later attributed to tumor rupture of right ovarian gonadoblastoma with dysgerminoma. Further evaluations revealed hypertension and hypokalemia. Hormonal findings showed increased progesterone, hypergonadotropic hypogonadism, and low cortisol levels. Her chromosome karyotype was 46,XX without Y chromosome material detected. Genetic analysis revealed that the patient had a homozygous pathogenic variant c.985_987delTACinsAA (p.Y329Kfs*90) in exon 6 of the

Objective: The aim of this study was to investigate the clinicopathological prognostic factors of malignant ovarian germ cell tumors (MOGCT) and evaluate the survival trends of MOGCT by histotype. Methods: We extracted data on 1,963 MOGCT cases diagnosed between 2000 and 2014 from the Surveillance, Epidemiology, and End Results (SEER) database and the histological classification of MOGCT, including 5 categories: dysgerminoma, embryonal carcinoma (EC), yolk sac tumor, malignant teratoma, and mixed germ cell tumor. We examined overall and disease-specific survival of the 5 histological types. Kaplan-Meier and Cox proportional hazards regression models were used to estimate survival curves and prognostic factors. We also estimated survival curves of MOGCT according to different treatments. Results: There was a significant difference in prognosis among different histological classifications. Age, histotype, grade, SEER stage, and surgery were independent prognostic factors for survival of patients with MOGCT. For all histotypes, 1-, 3-, and 5-year survival rate estimates were >85%, except for EC, which had the worst outcomes at 1 year (55.6%), 3 years (44.4%), and 5 years (33.3%). In the distant SEER stage, both chemotherapy and surgery were associated with improved survival outcomes compared with surgery- and chemotherapy-only groups. Conclusions: Dysgerminoma patients had the most favorable outcomes, whereas EC patients had the worst survival. A young age, low grade, and surgery were all significant predictors for improved survival. In contrast, a distant SEER stage was a risk factor for poor survival. Chemotherapy combined with surgery contributed to longer survival times of patients with MOGCT in the distant SEER stage.

Background: Dysgerminoma is a germ cell tumor of the ovary usually found in young women. It represents 1% to 2% of all ovarian cancers. The preoperative diagnosis is generally difficult. The surgery and the pathology study are therefore essential for the diagnosis, and optimal management. The incidence of pregnancy with dysgerminoma is extremely low. The treatment and management during pregnancy often jeopardize the materno-fetal prognosis. We report a case of ovarian dysgerminoma in an 18-year-old pregnant woman. Observation: Patient was an 18-year-old, female with no known past medical history, who presented to the emergency room at 29 weeks + 3 days pregnancy with dyspnea and a voluminous uterus (height 42 cm). An ultrasound showed an active pregnancy, and a large vascularized, finely echogenic, multi-partitioned, thick-walled liquid ovarian tumor. Ca125 was 231.5 IU/ml. Ovarian dysgerminoma was suspected. The surgery and the pathology study of the surgical specimen confirmed the suspected diagnosis. Patient died on postoperative day 8. Conclusion: Ovarian dysgerminoma is a rare malignant tumor, which must be suspected in case of complex ovarian mass of young women. When diagnosed during pregnancy, its management jeopardizes the materno-foetal prognosis.

Objective: The aim of this study was to evaluate the long-term outcomes and the factors related to patient prognosis. Materials and Methods: We retrospectively analyzed patients treated at the Department of Gynecology, Sun Yat-sen University Cancer Center, between January 1, 1968, and December 12, 2018. Results: A total of 107 patients were identified. Of all patients, 79 (73.8%) presented with stage I disease, 14 (13.1%) stage II, 13 (12.2%) stage III, and 1 (0.9%) stage IV. All patients received surgery, with 70 (65.4%) undergoing fertility-sparing surgery (FS) and 37 (34.6%) nonfertility-sparing surgery (NFS). Ninety patients received postoperative chemotherapy. Nine of the 43 cases with a lymphadenectomy had metastasis (20.9%). The median follow-up time was 132 months (range, 1–536 months). The overall 5-year and 10-year survival was 95.1% and 91.7%, respectively. The 10-year survival rate for stage I and II–IV patients was 96.1% and 79.1%, respectively (p = 0.008). For the patients undergoing FS and NFS, the 10-year disease-free survival rate was 82.3% and 88.0%, respectively (p = 0.403). The 10-year disease-free survival rate for patients with or without lymphadenectomy was 95.1% and 78.4%, respectively (p = 0.040), and it was 92.5% and 76.0%, respectively (p = 0.041), for those with or without omentectomy. Fifteen patients relapsed, and 4 of them (26.7%) had recurrence in the lymph nodes. Eleven of the 15 relapsed patients (73.3%) had been successfully salvaged. Limitations: As a study of a rare disease, our analysis was limited by its small sample size and the deemed disadvantage of a retrospective study. Conclusion: Excellent treatment results can be achieved in dysgerminoma patients who received proper treatment. Lymphadenectomy may improve patient survival. Relapsed patients can also be successfully salvaged.

Female pseudohermaphroditism occurs when normal ovaries are present but the body is partially masculinized as individuals with congenital adrenal hyperplasia, also known as adrenogenital syndrome. This is an inherited disorder that accounts for about one-half of all cases of human intersexuality. We report a case of a 24-year-old male presenting with abdominal pain and increasing abdominal distension for one month. Computed tomography scan revealed large multiloculated heterogeneously enhancing solid –cystic lesion in the abdominopelvic cavity– malignant gonadal mass, gross ascites, and visualization of the poorly formed elongated uterus-like structure in the recto-uterine pouch and phallus-like structure with non-visualization of bilateral testes. Histopathology report suggested germ cell tumor and immunohistochemistry confirmed the diagnosis of dysgerminoma. Since dysgerminoma is sensitive to platinum-based chemotherapy patient was subjected to chemotherapy and the patient showed a good response. The patient underwent exploratory laparotomy with right salpingo-oophorectomy with omentectomy and appendectomy.

Disorders of Sex Development (DSD) are referred to a group of disorders in which at least two out of gonadal sex, genetic sex, phenotypic sex and genital tract sex show discordance between them. Among the three main categories of DSD, 46XY DSD is a rarer type which we encountered in our case. A 14 year old female presented with abdominal pain and lump since 10 days. On clinical examination she had external sexual characters of a female. Karyotyping revealed a 46XY type. Intra-operatively, there was a normal uterus with a tumor mass in the location of the right gonad which was removed, along with a biopsy taken from the contralateral gonad, both intra-abdominal in location. Histopathologic examination of the tumor mass revealed a malignant mixed germ cell tumour (GCT) comprising of dysgerminoma and yolk sac tumour and the contralateral gonad was found to be testis, with evidence of intratubular germ cell neoplasm unclassified (IGCNU). Patient underwent 4 cycles of chemotherapy after the histopathologic diagnosis but was later lost to follow-up. The relative ambiguity of these disorders with their propensity to develop into type II GCTs makes these cases unique, perplexing and of utmost importance. Keywords: 46XY DSD, Mixed GCT, IGCNU.

One hundred malignant mixed germ cell tumors of the ovary that occurred in patients 3 to 55 years (mean: 20 y) of age are described. The clinical presentation was usually that of any highly malignant tumor of the ovary (abdominal pain and distension), but rarely (3 cases) endocrine manifestations were present. The tumors were usually unilateral (96%), ranged from 4 to 38 cm (mean: 16 cm), and were uniformly solid or, more often, solid and cystic; occasionally the typical appearance of dysgerminoma could be appreciated. The most common tumor type was yolk sac tumor (91%), followed by dysgerminoma (61%), immature teratoma (58%), embryonal carcinoma (38%), and choriocarcinoma (11%). A variety of admixtures were encountered; dysgerminoma and yolk sac tumor was the most common combination (25% of the tumors) with the 2 components often being sharply demarcated. Immature teratoma and yolk sac tumor was the next most common pairing (20%) followed by yolk sac tumor and embryonal carcinoma, with or without immature teratoma (16%). Tumors with a choriocarcinoma component had the most varied combinations of tumor types. Embryoid bodies were seen in 21% of the tumors, most often as fragmented forms arranged in a nodular manner with yolk sac tumor and/or embryonal carcinoma; uncommonly they occurred singly or in clusters. Numerous confluent well-formed embryoid bodies (polyembryoma) were prominent in 2 tumors. Three tumors had a focal diffuse embryoma pattern. The specific tumor types showed the known diverse spectrum of microscopic appearances, but the frequent haphazard arrangement of 2 or more subtypes often resulted in complex morphology. Overgrowth of another neoplastic component, most often primitive neuroectodermal tumor, occurred in 10% of the tumors further complicating the histologic picture. This is the largest series of ovarian malignant mixed germ cell tumors reported and details their characteristics including associations of their subtypes and the frequent apparent role of embryoid bodies in giving rise to yolk sac tumor and embryonal carcinoma components.

Differences of sexual development (DSD) are known to be associated with an elevated risk of malignant and pre-malignant tumors. However, given the rarity of DSD and tumors in patients with DSD, more robust, large scale, prospective literature is required to truly determine the extent of this association, long-term outcomes and the nuances associated with the wide variety of DSD diagnoses. In addition, the spectrum of diagnoses and nomenclature has been ever-changing, limiting assessment of long-term patient outcomes. This review aims to provide an overview of the pathogenesis of DSD conditions, potential malignancies associated with the diagnoses, the available screening for malignancy, and the most recent data on stratification for each DSD diagnosis and association with malignancy.

Background : Inferior caval syndrom is a rare case. It can caused by compresssion of the tumor mass and paraaortic metastastasis lession of ovarian dysgerminoma. Dysgerminoma is one of the most common germ cell tumor, approximately 3-5% of all ovarian cancers.1 Rate of dysgerminoma metastasis to lymph node is around 28%. In all type of germ cell, dysgerminoma has higher insidens to lymph node metastasis compare to the others. The first level of lymph node metastsis is paraaortic lymph node. However, the insidens is unknown because there is no research about it yet.2,3 Dysgerminoma frequently in young age, less then 30 years. The exact etiology of dysgerminomas has not been determined, although recent molecular studies have implicated loss function of potential tumor suppressor gene TRC8/RNF139, abnormality of Y chromosome and gonadal dysgenesis.4 The problem arises when dysgerminoma is diagnosed in pregnancy woman as clinically has inferior vena cava syndrom sign and symptoms which acquired efective and fast management. Objective : Discuss inferior caval syndrom as effect of compression by tumor mass, metastasis tumor lesion and chemotherapy management in dysgerminoma with pregnancy Case Report : Patient 32 years old admitted to M. Djamil central general hospital referred from Batusangkar hospital with diagnosis G3P2A0L2 25-26 weeks of preterm pregnancy + dysgerminoma + obs. Dyspnue. Patient has symptoms dispnue, exercise intolerance, oedem extremity. Physical examination : blood pressure was 100/70 mmHg, HR 120 dpm, RR 35 bpm, T 37 C. Abdomen : uterus fundal was palpated 2 fingers above umbilical, ballotement (+), FHR 150-158 bpm. Genitalia : I V/U normal, vaginal bleeding (-), oedem extremity +/+. From ultrasonography found dysgerminoma ovary with compression to inferior vena cava and paraaortic metastatic. Patient was diagnosed with dispnue ec. inferior vena cava syndrom caused by compression of tumor mass + paraaortic lymph node metastasis lession of ovarian dysgerminoma on G3P2A0L2 25-26 weeks of preterm pregnancy. Patient was managed by BEP chemotherapy and symptom was dissapeared. Patient was admitted to M. Djamil again with 34-35 weeks of preterm pregnancy in active phase of first stage. Because obtructed of labor patient was decide to performed LSCS. Female baby was born 1800 gram, baby’s length was 45 cm, A/S 7/8, there is no congenital anomaly. Patient was followed up 1 month after surgery, there is no symptoms, but fromUltrasonograhy found corpus metastasis and CT scan impressed paraaortic lymph node metastasis + copus metastasis. Chemotherapy was continue one month after caesarean section. She was completed 4 cycles chemothrapy and the disease was cureable. Conclusion : Caval syndrom is a rare case and fatal, caused by direct compression of dysgerminoma mass and paraaortic lymph node metastasis . Diagnosis of dysgerminoma is anatomy pathology diagnose . Management of dysgerminoma is surgical staging and 3-4 cycle of chemoterapy with BEP regimen . Chemoterapy with BEP (Bleomisin-Etopuside-Cisplatin) is safe to performed at second trimester with inferior vena cava syndrom ec paraaorta lymph nodes metastasis . Dysgerminoma has a good response to chemotherapy with survival rate 96% Keywords: Caval syndrom, lymph node paraaortic metastatic

To evaluate the therapeutic role of lymphadenectomy on patients with malignant ovarian germ cell tumor (MOGCT) and to investigate the risk factors of lymph node metastasis. Patients of MOGCT between 1988 and 2013 with definite lymph node information were extracted from the Surveillance, Epidemiology, and End Results (SEER) database. Survival curves were estimated using the Kaplan–Meier method, and Cox regression analyses were performed to evaluate the effects of clinical and pathologic variables on survival. 2424 MOGCT patients with information on lymph nodes were included. Of the entire cohort, 46.2% patients received lymphadenectomy. The most common (42.2%) histologic type was teratoma, and 70.6% patients had FIGO stage I disease. Cox proportional model verified that age, grade, and log odds of positive lymph nodes (LODDS) were independent prognostic factors. Subgroup analysis showed that the association between the lymph node resection and better survival in the different age cohort. Lymphadenectomy is not recommended for children (0–14 years). For patients 40 years of age and older, and for those who have the dysgerminoma type or endodermal sinus type, lymphadenectomy had an outstanding therapeutic role. As a parameter to assess lymph node status, LODDS could be used to classify MOGCTs.

Germ cell tumours of ovary (GCT) are rapidly growing neoplasms derived from pleuripotent primordial germ cells. They comprise 15–20% of all ovarian neoplasms of which 95% are mature cystic teratomas and 5% are malignant ovarian germ cell tumours (MOGCT). MOGCT continues to be the cause of diverse, diagnostically challenging issues for the pathologist, and they are academically interesting because of the biological diversity exhibited by these tumours in the two gonads (testis and ovaries). Their correct diagnosis often has major important therapeutic and prognostic implications. This review intends to provide a refresher and update on the diagnostic aspects MOGCT including clinical, morphological, immunocytochemical and where relevant the molecular features. Somatic malignancies with a germ cell components and the use of new pluripotency markers that have improved diagnostic accuracy have also been included.

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.

Einleitung Dysgerminome sind seltene maligne Keimzelltumoren des Ovars und in der Schwangerschaft eine Raritat. Neben ovariellen sind auserhalb der Schwangerschaft auch primar extraovarielle Dysgerminome des Mediastinums und Retroperitoneums beschrieben. Nach adaquater chirurgischer und systemischer Therapie besteht eine gute Prognose. Methodik Bericht eines primar extraovariell-intraabdominalen Dysgerminoms in der Schwangerschaft, systematische Literaturrecherche. Fallbericht Bei einer 35-jahrigen II Gravida wird in der 20. Schwangerschaftswoche ein suspekter intraabdominaler Tumor festgestellt. Bei der folgenden Explorativlaparotomie wird bei unauffalligen Ovarien ein Tumorkonglomerat mit Darminfiltration reseziert und ein Dysgerminom diagnostiziert. In der 34. SSW wird eine primare Sectio Caesarea durchgefuhrt, erneuter Tumorbefall komplett reseziert und folgend systemisch Bleomycin, Etoposid und Cisplatin appliziert. Nach 12 Monaten erfolgt bei zystischen Adnexen eine erneute Exploration mit Hysterektomie und Adnexektomie beidseits ohne Nachweis von Malignitat. Nach nun 16 Monaten besteht weiter eine Komplettremission. Zusammenfassung Prasentiert wird die Erstbeschreibung eines primar extraovariell-intraabdominalen Dysgerminoms in der Schwangerschaft. Durch die Entscheidung, die zytoreduktive Operation wahrend und die Systemtherapie erst nach Prolongation der Schwangerschaft durchzufuhren, konnte grostmoglicher Benefit fur das Kind mit der gunstigen Prognose der Mutter vereint werden. Angesichts limitierter Datenlage mussen bei Dysgerminomen in der Schwangerschaft individuelle, interdisziplinare Konzepte erstellt werden.

To evaluate trends in the surgical management of young women and pediatric patients with malignant ovarian germ cell tumors (MOGCTs) and associated survival outcomes.Using the Surveillance, Epidemiology, and End Results database we identified patients under 40 years who underwent surgery between 1994 and 2014. The Joinpoint Regression Program was employed to investigate the presence of temporal trends and calculate average annual percent change (AAPC) rates. For analysis purposes two age groups were formed; pediatric/adolescent (≤21 yrs) and young adult (22-40 yrs). Histology was categorized into dysgerminoma, immature teratoma, yolk-sac tumor, mixed germ cell tumor and other histology. Cancer specific survival was compared using log-rank tests.A total of 2238 patients were identified, with median age 21 years. Only 12.4% underwent hysterectomy. One third underwent omentectomy, and one half underwent lymphadenectomy (LND). A decrease in the rate of omentectomy (AAPC: -2.15, 95% CI: -3.4, -0.9) and hysterectomy (AAPC: -3.31, 95% CI: -6.1, -0.4) was observed. There was no change in the rate of LND (AAPC: 0.17, 95% CI: -0.7, 1.1). Pediatric patients were less likely to undergo omentectomy (30.2% vs 35.5%, p 0.001), hysterectomy (3.5% vs 22%, p 0.001) and LND (45.6% vs 54.7%, p 0.001). There were no apparent survival differences according to the performance of hysterectomy, omentectomy or LND, when stratified by early (stage I) and advanced stage (II-IV), (p 0.05).Pediatric patients with MOGCTs undergo less extensive surgical staging. A trend towards less extensive surgical procedures for young women over time was observed, without an apparent detrimental effect on cancer specific survival.

Objectives The aim of this study is to report a case series of atypical presentations of intracranial dysgerminoma in which the diagnosis was delayed due to clinical and radiographic findings initially suggestive of CNS inflammatory or demyelinating diseases, such as MS. Methods This study is a case series detailing the history, clinical presentations, radiographic and laboratory results, and management of three patients with biopsy-proven intracranial dysgerminoma. Results All three patients demonstrated hyperintense lesions on MRI that were more suggestive of demyelinating or inflammatory diseases, including lesions involving the midbrain and corpus callosum. All three patients were serum positive for oligoclonal bands and negative for both AFP and beta-hCG (these two markers are commonly seen in dysgerminoma cases). One case involved a steroid-responsive tumor whereas the other two cases either did not respond to steroids or steroids were withheld due to uncertainty of etiology. Following biopsy, all three results were consistent with dysgerminoma. Conclusion Clinicians should be aware that dysgerminoma may mimic the clinical and radiographic presentations of demyelinating diseases such as MS. These lesions can cause acute visual loss or diplopia, have MRI and CSF findings that might mimic MS, and have been shown to respond to steroids. Atypical clinical (e.g., headache, dorsal midbrain syndrome, bilateral optic neuropathy) or atypical radiographic features (e.g., mass effect, hydrocephalus) should prompt consideration for repeat imaging and possible biopsy even if serum or CSF tumor markers (beta-hCG and AFP) are negative for dysgerminoma.

Objective To describe the gonadal features of patients with 45,X/46,XY mosaicism, and to evaluate the prevalence of gonadal tumor in different phenotypes. Materials and Methods The medical records of consecutive patients with 45,X/46,XY karyotype or its variants who had undergone gonadal biopsy or gonadectomy at a single institute between 1996 and 2017 were retrospectively reviewed. Results Of 34 patients with 45,X/46,XY mosaicism, a unilateral dysgenetic testis and a contralateral streak gonad was detected in 20 patients (59%), bilateral streak gonads in 9 (26%), and bilateral dysgenetic testes in 5 (15%). A gonad composed of both streak and dysgenetic testicular portions was observed in 7 gonads of 6 patients. All streak gonads were removed, and bilateral gonadectomy was performed in 15 patients raised as girls. Pathologic examination revealed gonadal tumors in 6 of the 34 (18%) patients, including a gonadoblastoma in 7 gonads among 5 patients and an association of dysgerminoma with gonadoblastoma in 1 gonad. All 6 patients who developed gonadal tumor had female genitalia. Postoperative course was uneventful except 1 boy. A seminoma was developed in his soritaly scrotal testis at the age of 16 years. Conclusion The prevalence of gonadal tumor in patients with 45,X/46,XY mosaicism may vary according to the phenotype, and high in patients with female phenotype. Considering the increased risk of gonadal tumors in such patients, early investigation and individual management, including prophylactic gonadectomy, are recommended. In male patients, a close follow-up of the preserved testes is mandatory until adulthood.

Background Differences/disorders of sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Objective The aim of this study is to report the histological characteristics and immunoexpression patterns of gonadal parenchyma in patients with 46,XX testicular and ovotesticular DSD, with a focus on the detection of germ cell malignancies. Design Inclusion criteria were SRY-negative 46,XX testicular and ovotesticular DSD with available samples from gonadal biopsy or gonadectomy for the review of histological findings. Gonadal histology was assessed on hematoxylin and eosin-stained sections and immunohistochemical analysis. Histopathological criteria from the last World Health Organization classification of urogenital tumors were used to identify undifferentiated gonadal tissue, gonadoblastoma, and dysgerminoma. Results Median age at first histological evaluation of gonadal samples was 1.46 years (range: 0.16–16 years). Totally 15 patients were classified as ovotesticular and only 1 as testicular DSD. Most individuals had bilateral ovotestes (12/15). No histological alterations were found in the ovarian parenchyma, while signs of dysgenesis were seen in all cases of testicular parenchyma. In 4/15 ovotesticular DSD, a prepubertal biopsy failed to identify ovarian parenchyma. We detected early prepubertal preinvasive and invasive malignancies in this cohort (five patients had undifferentiated gonadal tissue, five gonadoblastoma, and one dysgerminoma). Conclusion 46,XX disorders of gonadal development are historically considered at a low risk for germ cell cancer, and the need for assessment of gonadal histology has been questioned. The finding of early germ cell malignancies in our cohort brings awareness and needs further research.

Malignant mixed ovarian germ cell tumors are very rare malignant ovarian germ cell tumors, with a very high degree of malignancy. They are aggressive cancers affecting young adolescent girls. The commonest combination reported in literature is dysgerminoma and endodermal sinus tumors. Fertility sparing surgery followed by combination chemotherapy is the treatment of choice. The objectives of this case report are the advanced age of presentation, unusual histopathological combination, and the irony of infertility treatment. We report a rare case of 40-year-old woman with Malignant mixed germ cell tumor comprising of components of endodermal sinus tumor, immature teratoma, dysgerminoma and embryonal carcinoma. Patient was on hormonal therapy for the cause of infertility, presented with complains of lower abdominal pain, constipation and incomplete evacuation of bladder for 2months. Transvaginal ultrasonography and CT scan showed a large multicystic space occupying lesion with predominant solid component in midline abdominopelvic location. Tumor markers i.e., AFP, Prolactin and CA125 were raised. Total abdominal hysterectomy and bilateral salpingoophorectomy, pelvic and retroperitoneal node resection, peritonectomy and omentectomy was performed.

Pure gonadal dysgenesis is a situation when the karyotype is 46, XY, but for various reasons there is a disorder of differentiation of Wolffian and Mullerian structures and in consequence the phenotype is female. It is known that abdominal gonads and the presence of Y chromosome allow to qualify this condition as a high risk of tumor. In most cases breast development is limited because of lack or low level of estrogen. A 27-year-old patient with differences of sexual development (DSD), was admitted to the Department of Endocrinological Gynecology for a control examination. In the history: dysgerminoma, primary amenorrhea and ambiguous karyotype. The patient has not taken hormonal replacement therapy. The breast development is Tanner stage V.

Background: Malignant ovarian germ cell tumors (MOGCTs) are rare female cancers, constituting up to 10% of ovarian cancers. Dysgerminoma is the most common histological variant. Surgical removal of the tumor with optimal debulking is the treatment of choice. Multidrug chemotherapy following surgery offers high remission rates. Considering the prevalence of these tumors in adolescent and young females, fertility-sparing treatment is of paramount importance. Methods: The data of all patients with ovarian malignancy admitted at a tertiary-care-teaching hospital from September 2009-March 2019 were analyzed. Ten patients of MOGCTs were treated in this period. The clinical features, radiological and biochemical findings, and management and treatment outcome were evaluated. Results: The median age of patients was 23 years. Histological subtypes included immature teratoma (n=3), endodermal sinus tumor (n=4), and dysgerminoma (n=3). Tumor markers namely AFP, βHCG, and LDH increased in all except the patients with immature teratoma. Two patients with dysgerminoma were in the second trimester of pregnancy. All patients except one underwent surgery followed by BEP chemotherapy. Two patients had developed metastasis within six months of treatment and died. In seven patients, no evidence of disease was reported till date. Conclusion: Management of antenatal patients with dysgerminoma by surgery followed by BEP chemotherapy has favorable prognosis. Fertility-sparing surgery with adjuvant chemotherapy offers great advantage in young girls. However, risk stratification based on prognostic factors should be implemented in order to individualize the treatment for achieving higher survival rates. The option for oocyte-cryopreser-vation prior to surgery must be discussed with patients desiring future fertlity.

Background Imaging findings have a prominent role in early and correct identification of ovarian dysgerminoma, the most common ovarian malignant germ cell tumor (OMGCT). Despite Computed Tomography (CT) is widely used, Magnetic Resonance Imaging (MRI) has proved to be superior in adnexal masses characterization. Limited data and small series are available concerning MRI aspects of dysgerminoma. Case presentation From January 2012 to December 2018, a database of solid ovarian masses was retrospectively reviewed. Eight patients with histologically proven pure ovarian dysgerminoma and complete imaging available were identified and analyzed. Imaging findings were evaluated separately by two radiologists expert in female genito-urinary MRI. Conclusions MRI findings of a lobulated, purely solid, encapsulated mass with hyper-intensity of lobules and hypo-intensity of septa on T2w images contribute to differentiate dysgerminomas from other ovarian neoplasms.

Introduction: Cutaneous metastasis is an uncommon manifestation that mostly occurs in patients with previous gastrointestinal or gynecological malignancies. Local recurrence usually can be seen in surgical incisions. Dysgerminomas are rare ovarian tumors that usually have local invasions, but metastases are infrequent. Here, we described a case of dysgerminoma and cutaneous metastasis in the surgical incision. Case Presentation: The patient was a 39-year-old woman previously known as ovarian dysgerminoma, who had undergone surgery one year ago. Ultrasound examination a year after surgery showed a 35 × 33 millimeters hypoechoic solid tumor in the left ovary and another 3 masses with similar echo pattern and vascularity were found in the surgical incision. Magnetic resonance imaging (MRI) findings were compatible with cutaneous metastasis of pervious dysgerminoma. Pathologic evaluation and Immunohistochemistry (IHC) confirmed dysgerminoma's skin metastasis. She received chemotherapy due to the recurrence of malignancy. Conclusions: Local recurrence and metastases (even in the skin) should be kept in mind and the clinician must examine the surgical site skin in patients with a history of malignancy.

Introduction/Background* Ovarian cancer is the eighth most frequent cancer worldwide. Although the vast majority of ovarian cancers are diagnosed in postmenopausal women and at advanced stage, a significant subset occurs in younger women. Our objective is to describe the diagnosis and treatment of ovarian cancer in young women in a tertiary Spanish hospital during a 7-year period. Methodology Retrospective descriptive cohort study of patients aged between 18 and 45 years old diagnosed with ovarian cancer between 01/2012 and 12/2019 at University Hospital 12 de Octubre, Madrid, Spain. Result(s)* A total of 34 women were included. The mean age at diagnosis was 35.9 years old and the mean body mass index (BMI) was 23.7 kg/m2. 22/34 (64.7%) women were nulligesta; 6/34 (17.6%) had a family history of breast/ovarian cancer; 7/34 (19.6%) were smokers and 3/34 (7.8%) were BRCA mutated. The mean tumor’s size in presurgical imaging workup (ultrasound, CT or MRI scan) was 110.1 ± 68.5mm. The mean Ca-125 serum concentration was 128.4 U/mL in FIGO stages I-II and 393.7 U/mL in FIGO stages III-IV. The diagnostic method was adnexectomy in 79.4% of the patients; 55.9% performed by laparotomy. 29/34 (85.3%) patients presented epithelial tumours (20.6% low-grade serous, 14.7% high-grade serous, 17.6% mucinous, 14.7% clear cells, 14.7% endometrioid) and 5/34 non epithelial (5.9% dysgerminoma and 11.8% other non epithelial histology). 23/34 (67.6%) patients were diagnosed at FIGO stages I-II. In patients with FIGO stage III-IV, 4/11 (36.4%) of patients underwent primary cytoreductive surgery and 6/11 (54.5%) of patients underwent surgery after neoadjuvant chemotherapy. Complete tumor resection was obtained in 90.9% of all surgeries. Fertility preservation was possible in 7/34 patients (20.6%). Mean follow up time was 48.4 ± 24.7 months. Five patients (14.7%) relapsed, one patient (3.4%) died because of disease and one patient (3.4%) died because other disease. At the time of last follow up, 28/34 (82.4%) women were tumor free, 2/34 (5.8%) were alive with disease, 2/34 (5.8%) were lost in the follow up. Conclusion* As reported in literature, women under 45 years old are often diagnosed with early stage ovarian cancer and present optimal survival results with low recurrence rate.

Hypercalcemia associated with malignant tumors is a rare entity in pediatrics (0.5-1.3 % of pediatric cancers). It responds to different pathophysiological mechanisms and the typical symptoms shown are usually nonspecific, but potentially serious. We present a clinical case of a 12-year-old patient with a bilateral ovarian dysgerminoma who was diagnosed with severe hypercalcemia at the onset, which required hyperhydration associated with loop diuretics, bisphosphonates and, eventually, the tumor resection surgery that allowed the final resolution of the clinical picture. Despite being a rare hydroelectric disorder in pediatrics, given the potential severity of hypercalcemia, early detection and treatment are important in order to avoid potential short- and long-term complications.

Introduction/Background* Malignant ovarian germ cell tumours (OGCT) often affect women of younger age at an early stage of disease who may desire fertility conservation. The Arbeitsgemeinschaft fuer Gynaekologische Onkologie (AGO) has established a clinicopathological (Current Ovarian geRm cell and SEx cord stromal Tumour Treatment strategies, CORSETT) database to describe treatment strategies and outcomes for these women. Methodology 20 German centres entered mixed retro- and prospective data of 56 FIGO stage I OGCT patients treated between 2000 to 2014 into the CORSETT database. An independent CORSETT pathology reference panel re-evaluated the primary histological diagnosis. A descriptive analysis of the treatment strategies, pregnancy rates and disease recurrence was conducted. Result(s)* Median age at diagnosis of patients with malignant dysgerminoma, mixed OGCT and teratoma was 28 (IQR 26 – 33), 33 (30 – 40) and 38 (29 – 44) years. FIGO IA/IB/IC stage distribution was 13/2/11 for dysgerminoma, 3/0/9 for mixed OGCT and 8/0/8 for teratoma patients. Laparoscopy was performed for 23 (69.7%) dysgerminoma, six (35.3%) mixed OGCT and eight (40%) teratoma patients and fertility-sparing surgery was provided for > 80% of all FIGO I OGCT patients. Intra-operative cyst rupture occurred in six (19.4%) dysgerminoma, five (41.6%) mixed OGCT and four (25.5%) teratoma patients and adjuvant chemotherapy was consequently given in one (3.5%) dysgerminoma, nine (81.2%) mixed OGCT and eight (47%) teratoma patients. Four (14.3%) dysgerminoma, three (27. 3%) mixed OGCT and four (23.5%) teratoma patients conceived after first line treatment. The disease reoccurred in two (7.1%) dysgerminoma, five (45.5%) mixed OGCT and two (11.8%) teratoma patients, predominantly intraperitoneally. No FIGO I OGCT patient died due to disease recurrence. Conclusion* Women with mixed OGCTs had a high risk of intra-operative cyst rupture and high recurrence rates despite FIFO stage I disease. These events had no impact though on overall survival rates.

Introduction/Background* Malignant Germ cell tumours (MGCTs) are rare tumours that account for 2% - 3% of all ovarian cancers. Being highly chemosensitive, fertility sparing surgery whenever feasible with or without adjuvant chemotherapy, is the standard treatment approach in these patients. Upfront fertility sparing surgery may not be feasible in all patients with advanced stage disease due to poor performance status, bilateral ovarian disease or large tumours infiltrating the uterus. Neoadjuvant chemotherapy (NACT) followed by conservative surgery might be considered for such patients. This study aimed to analyse the outcome of patients with advanced malignant germ cell tumour ovary who underwent NACT followed by surgery and to assess the menstrual and reproductive function in those patients who underwent conservative surgery. Methodology A retrospective study of 28 patients who underwent debulking surgery following neoadjuvant chemotherapy for advanced malignant germ cell tumour ovary from January 2008 to March 2019. Clinical information and follow up data till December 2020 were collected from medical records. Result(s)* The median follow up period was 76 months (range 7 to 133 months). The median age was 16.5 years (range 7 to 31years). Twenty four (85.8%) patients underwent fertility sparing surgery. Complete pathological response was seen in 25 (89.3%) patients. Two patients were lost to follow up, one of whom was pregnant at the time of the last follow up. One patient, who initially presented with stage IV Dysgerminoma and underwent bilateral salpingo- oophorectomy following chemotherapy, died 6 months after surgery due to disease recurrence. Of the remaining patients, 17 reported menstruation following treatment. Two patients were diagnosed with primary amenorrhoea and 2 were still premenarchal. Three patients tried for pregnancy and had a total of 4 pregnancies. Conclusion* NACT followed by interval debulking surgery might be considered in patients with advanced malignant germ cell tumour. In patients with poor performance status and high tumor load, neoadjuvant chemotherapy makes fertility sparing surgery feasible with a good reproductive outcome.

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.

To evaluate our single-center experience and results in management of children diagnosed with ovarian masses using minimal access surgery. Retrospective data review (2014–2016) of patients with adnexal disease was performed. Institutional ethical committee approval was obtained for this analysis. Twenty-one girls aged 9–18 years with 12 right, 7 left and 2 bilateral ovarian masses were analyzed. Of these 16 girls, 15 were operated laparoscopically based on clinical findings, ultrasound reports, computed tomography and/or magnetic resonance imaging, and tumor marker levels. There was a significant difference observed in the size of ovarian masses between operated versus non-operated group (87.1 vs. 31.8 mm; p

Turner syndrome is a chromosomal disorder that occurs in an estimated 1 in 2500 female live births. It is estimated that 6%-12% of all Turner syndrome patients will be a mosaic with Y-chromosomal elements putting them at risk for gonadoblastoma and subsequent dysgerminoma. While 30%-50% of this population demonstrate gonadoblastoma, we only found 23 reported cases of dysgerminoma in the literature, and no reported cases of seminoma. We present the first case of seminoma in a phenotypic Turner 15-year-old female after prophylactic gonadectomy.

Ovarian malignant germ cell tumors, although rare, are the most common type of malignant ovarian neoplasms in girls and adolescents; approximately two thirds of all cases occur in women under 20 years old. These tumors represent 2%-5% of all ovarian germinal tumors. Tumors comprise two or more types of germ cell components that include dysgerminoma accompanied by tumors of the endodermal sinus, embryonal cell carcinoma, mature or immature teratoma and/or choriocarcinoma. There are few case reports of mixed germ cell tumors with different combinations of malignant components. Alpha-fetoprotein and human chorionic gonadotropin are the most characteristic tumor markers, and immunohistochemical findings are important in the diagnosis of mixed malignant ovarian germ cell tumors. Surgery plus adjuvant chemotherapy is the first option to preserve fertility in any girl or adolescent who presents a rapidly growing pelvic tumor with high concentrations of alpha-fetoprotein or human chorionic gonadotropin. We present a case of ovarian malignant mixed germ cell tumor. Los tumores malignos de células germinales del ovario, aunque poco frecuentes, son el tipo más común de neoplasias ováricas malignas en niñas y adolescentes; aproximadamente dos tercios de ellas menores de 20 años. Representan 2% a 5% de todos los tumores ováricos de origen germinal. Los tumores comprenden dos o más tipos de componentes de células germinales, e incluyen al disgerminoma acompañado de tumores del seno endodérmico, carcinoma de células embrionarias, teratoma maduro o inmaduro y/o coriocarcinoma. Existen pocos informes de casos de tumores de células germinales mixtas con diferentes combinaciones de componentes malignos. La alfafetoproteína y la gonadotropina coriónica humana son los marcadores tumorales más característicos. Los hallazgos inmunohistoquímicos son importantes para el diagnóstico. La cirugía más quimioterapia adyuvante es la primera opción para preservar la fertilidad en cualquier niña o adolescente que presente con un tumor pélvico en rápido crecimiento. Se presenta un caso de tumor maligno mixto de células germinales de ovario.

Purpose This study aimed to analyze the clinicopathological features, treatment, and feto-maternal outcomes of pregnancy complicated by malignant ovarian germ cell tumors (MOGCTs), to increase the awareness on this condition. Patients and methods We retrospectively reviewed the medical records of patients diagnosed with MOGCTs during pregnancy, who were treated and followed-up at Peking Union Medical College Hospital from January 2000 to December 2017. The demographic characteristics, pathological features, treatment and prognosis were analyzed. Results The histological subtypes varied in 14 patients (dysgerminoma, n=1; immature teratoma, n=4; yolk sac tumor, n=6; and mixed germ cell tumors, n=3). Ten (71.4%) patients, including three who opted for conservative therapy until childbirth, one who only received salvage chemotherapy during pregnancy, and six who underwent cystectomy or unilateral salpingo-oophorectomy during pregnancy, desired fetal preservation. After undergoing surgery, four patients chose surveillance instead of timely adjuvant chemotherapy. Eight patients delivered their babies, and the preterm delivery rate was 50.0%. One newborn died of premature birth. The median follow-up period was 44 (range: 13 to 86) months. During the current study period, 12 patients had survived and did not report any diseases. However, two died due to disease progression. Conclusion Pregnant women with MOGCTs had favorable outcomes. However, when a malignant tumor is suspected, surgery cannot be avoided. Thus, instead of timely postoperative adjuvant chemotherapy, close surveillance may be an acceptable alternative for pregnant women with low-risk MOGCTs.

Primary ovarian lymphomas are rare, but can potentially evoke diagnostic problems. We present a case of ovarian lymphoma, in which an ambiguous intraoperative pathologic report led to overtreatment (unnecessary surgery). A 73-yr-old woman with fatigue and low-grade fever was diagnosed as having a left ovarian tumor by imaging modalities. Exploratory laparotomy was carried out to confirm the diagnosis. The frozen tissue sections of the ovarian tumor showed condensed proliferation of atypical round cells accompanied with a few small lymphocytes. The pathologists could not determine whether this tumor was a lymphoma or another malignancy (eg, dysgerminoma). Hence, they reported it to gynecologists who operated as simply a malignant tumor in order to evade misdiagnosis. On the basis of the inconclusive pathologic report, the gynecologists decided to change the planned laparotomy to total hysterectomy with bilateral salpingo-oophorectomy and pelvic lymph node dissection. A postoperative paraffin section-based pathologic diagnosis was diffuse large B-cell lymphoma of the ovary, which basically does not require surgical treatments. Subsequently, chemotherapy for B-cell lymphoma was initiated, and no lymphoma recurrence has been reported to date. A more robust preoperative discussion between the gynecologists and the pathologists might have avoided the overtreatment.