SRY-positive 45,X/46,XY karyotype in a phenotypically Turner-like Chinese adolescent female with ovarian dysgerminoma and gonadoblastoma.

OBJECTIVES: 45,X/46,XY mosaicism is a rare condition with clinical and genetic heterogeneity and have a greatly increased risk of developing germ cell tumors. We describe a rare 45,X/46,XY Chinese girl with malignant tumors, especially focusing on the molecular genetics of gonadal tumor. CASE PRESENTATION: We report a phenotypically Turner-like Chinese adolescent girl who presented primary amenorrhea and a pelvic mass as the chief complaint, which finally demonstrated dysgerminoma replacing the left gonad and gonadoblastoma arising from right gonad respectively. Her chromosome karyotype was 45,X(4)/46,XY(46); Y-chromosome microdeletions in AZFb regions were found on gonadal DNA rather than peripheral blood lymphocyte (PBL) DNA, while no variants were found in the promoter and coding region of SRY gene in both PBL and gonadal tissues. She underwent bilateral gonadectomy; no recurrence or serious complications were identified after 3 years of follow-up. CONCLUSIONS: This case emphasizes the probable correlation between Y chromosome microdeletions in gonadal tissue and the severity of the phenotype in patients with 45,X/46,XY mosaicism and highlights the importance of clinical genetic testing at the chromosomal and molecular level.

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.

Imaging appearance of ovarian dysgerminoma: A report of two cases.

Ovarian dysgerminoma is a rare germ cell tumor accounting for 1%-2% of all malignant ovarian tumors and is generally associated with a good prognosis. The condition is more frequent in young women and can arise in dysgenetic gonads that contain gonadoblastomas. Imaging findings, particularly MRI, have a prominent role in the early and correct identification of ovarian dysgerminoma, the most common ovarian malignant germ cell tumor. On CT and MR images, ovarian dysgerminoma often appears as a large, solid mass. The edematous condition of characteristic fibrovascular septa can be well displayed by imaging, which can guide the radiologists to make an accurate diagnosis. This article describes 2 cases of patients with ovarian dysgerminoma who presented with pelvic pain. Imaging showed a right ovarian mass that was surgically and histologically confirmed.

Spontaneous pregnancy after fertility-sparing surgery and adjuvant chemotherapy for advanced pure dysgerminoma: A case report.

Key Clinical Message: Fertility-sparing surgery and appropriate adjuvant chemotherapy for advanced malignant ovarian germ cell tumors have excellent survival results and promising reproductive and obstetric outcomes. Abstract: This case report aims to demonstrate the potential feasibility and success of fertility-sparing surgery (FSS) coupled with adjuvant chemotherapy in treating advanced malignant ovarian germ cell tumor (MOGCT), focusing on pure dysgerminoma, fertility, and achieving spontaneous pregnancy. The patient was a 23-year-old female who initially presented with complaints of abdominal distension and a palpable mass and was subsequently diagnosed with advanced MOGCT. The patient provided a complete clinical and radiological response to FSS with complete surgical staging and cisplatin-based chemotherapy (bleomycin, etoposide, and cisplatin). Despite being diagnosed with advanced MOGCT and treated with FSS and adjuvant chemotherapy, she later experienced spontaneous pregnancy, giving birth to a healthy child. This case study demonstrated the potential for successful fertility preservation and pregnancy in advanced-stage MOGCT patients treated with personalized treatment approaches. Nevertheless, a broader investigation is needed to understand the relevant complex dynamics and to ascertain whether FSS with adjuvant chemotherapy could be a reliable approach in treating advanced MOGCT.

Primary Mediastinal Dysgerminoma: A Case Report and Literature Review.

Germ cell tumors are malignant tumors that mostly develop in the gonads. Extragonadal localization is rare and may affect the mediastinal and sacrococcygeal regions. Mediastinal seminoma is a malignant germ cell tumor of the mediastinum. The tumor typically occurs in the anterosuperior mediastinum in males and often has a very slow growth pattern and limited potential for metastasis. And symptoms are not very characteristic, with many patients being asymptomatic and the tumor being discovered incidentally. In this paper, we report the case of a 26-year-old patient admitted for the management of a large anterosuperior mediastinal tumor encasing the vital structures of the mediastinum.

Ovarian Germ Cell Tumors in North-Western India: A Comprehensive 3-Year Retrospective Study of 145 Cases at a Tertiary Cancer Hospital.

Germ cell tumors encompass a broad spectrum of neoplasms arising from germ cell lineage, demonstrating varying histological profiles and clinical presentations. These tumors encompass a range of benign and malignant entities. While global trends provide insights into their prevalence, specific regional variations, such as those within North-Western India, remain less explored. This study seeks to bridge this knowledge gap by examining the prevalence and characteristics of germ cell tumors within a tertiary cancer hospital. In this retrospective analysis, all cases of germ cell tumors diagnosed over a 3-year period in the specified tertiary cancer hospital were included. Cases with incomplete records or inadequate pathological data were excluded. Data encompassing histological subtypes, patient age distribution, clinical presentations, and histopathological features were collected and analyzed. The study comprised 145 cases of germ cell tumors. Teratomas were the most prevalent subtype, with mature teratomas accounting for the majority. The highest incidence occurred within the 21-30-year age group with a mean age of 24.77 years. Abdominal mass (56%) and abdominal pain (34%) were the prominent clinical presentations. Benign cases constituted the majority 85.5%. Solid tumors (p < 0.00001) and tumors more than 10 cm (p .029028) were found to have a high propensity to be malignant, which was proven to be statistically significant. This study comprehensively explains germ cell tumors' prevalence, clinical features, and histopathological subtypes in a tertiary cancer hospital in North-Western India. The predominance of teratomas, particularly mature ones, aligns with global trends. The age distribution and clinical presentations reflect common patterns. The diverse histopathological appearances underscore the heterogeneous nature of germ cell tumors. This study offers valuable insights for clinical management and further regional research.

Review of neoplasia in fish at a large display aquarium, 2005-2021.

Fish maintained in managed care may have longer lifespans as a result of advances in veterinary medicine and husbandry and reduced risk of predation. Neoplasia is of increasing interest in managed aquarium populations. However, few studies have systematically evaluated neoplasia in managed fish populations. Our objective in this retrospective study was to review and describe neoplasia diagnosed in fish at a large public display aquarium between 2005 and 2021. Any fish diagnosed with neoplasia on either antemortem or postmortem evaluation during the study period was included, and all medical records, biopsy, and autopsy reports were reviewed. Sixty-two fish met the inclusion criteria; 37 species were included in the study population, most of which were tropical freshwater fish (n = 34 fish). Thirty-two types of neoplasia were identified. Ten fish had benign neoplasms, and 53 fish had malignant neoplasms. The most common neoplasms were of epithelial and neuroectodermal origin. The most common site of tumor origin was the skin. Our data suggest that mesenchymal neoplasms may be more common in cold saltwater fish than in tropical freshwater and saltwater fish. Malignant neoplasms were most commonly diagnosed in the study population and should be a top differential when neoplasms are identified in fish managed under human care. Our study contributes to the overall knowledge of the health of aquarium fish and may aid clinicians in characterizing neoplasia that may be present in fish under human care.

Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis.

Pathogenic variants of the SOHLH1 gene are responsible for an autosomal recessive form of ovarian dysgenesis; this gene encodes a transcription factor expressed early in spermatogonia and oocytes and contributes to folliculogenesis. Previously, four affected women from two unrelated families reported homozygous variants in the SOHLH1 gene, but none had a history of gonadal malignancy or a histologic description. We present two sisters and their paternal great-aunt with a history of primary amenorrhea, pubertal delay, and hypergonadotrophism who came from an inbred Mexican family. The proband was the younger sister who was referred for bilateral dysgerminoma. She had a normal blood karyotype, and whole-exome sequencing analysis revealed a novel homozygous missense variant, c.275C>T, in SOHLH1; several family members were also analyzed. In addition to pure dysgerminoma, histopathological analysis revealed an ovarian cortex with fibrosis and almost total absence of follicles. This work confirms the inheritance of ovarian dysgenesis 5, supports the occurrence of cell loss in mouse models, and suggests that affected women should undergo periodic imaging surveillance due to the likely risk of tumor development.

Malignant ovarian and testicular germ cell tumors: Common characteristics but different prognoses.

Both ovarian and testicular germ cell tumors (GCTs) arise from the primordial germ cell and share many similarities. Both malignancies affect mainly young patients, show remarkable responsiveness to cisplatin-based therapy, and have an excellent prognosis, which also highlights the importance of minimizing long-term side effects. However, certain differences can be noted: The spreading of the disease differs, and the staging system and treatment recommendations are dissimilar. Moreover, the prognosis for ovarian GCTs is significantly inferior to that for testicular cancer, as exemplified in this review comparing the survival in Swedish patients diagnosed with testicular (1995-2022) and ovarian (1990-2018) GCTs. The 5-year overall survival in ovarian GCTs was 85.2%, versus 98.2% for testicular GCTs. How can this be explained? One reason may be the difference in knowledge, experience, and evidence because the incidence rate of testicular cancer is more than 15 times that of ovarian GCTs. Given the rarity of the disease in women and the lack of established guidelines, a comprehensive understanding of the disease and treatment decisions is challenging. The main objective of this review is to derive insights from testicular GCTs (seminoma and non-seminoma) by reviewing etiological, tumor biological, and clinical knowledge, and to thereafter suggest actions for ovarian GCTs based on this. We hypothesize that by adopting specific treatment strategies from testicular GCTs-including de-escalating adjuvant chemotherapy for low-risk patients and implementing more standardized and intensive treatment protocols in cases of relapse-we can improve the prognosis and minimize long-term side effects in ovarian GCT patients.

Frequent expression of CD45RO memory T cell marker as well as low to high expression of PD-1 and PD-L1 inhibitory molecules in seminoma and dysgerminoma.

BACKGROUND: Seminoma and dysgerminoma are rare testicular and ovarian germ cell tumors characterized by a significant infiltration of immune cells in the tumor microenvironment. According to the failure of conventional treatments in some patients, it is crucial to identify novel prognostic and therapeutic biomarkers for these patients. The objectives of this study were to evaluate the expression of CD45RO and PD-1/PD-L1 and investigate their association with the clinicopathological characteristics of the patients. METHODS: Immunohistochemistry was performed to assess the expression of CD45RO, PD-1, and PD-L1 in tumor-infiltrated lymphocytes (TILs), and tumor cells in 33 seminoma and 31 dysgerminoma patients. The expression levels were evaluated using a semiquantitative approach, weighted histoscore, which considers both the intensity and extent of staining. RESULTS: All seminoma and dysgerminoma patients exhibited CD45RO expression in TILs, with 66.7 % and 90.3 % displaying high levels of expression, respectively. PD-1 expression in TILs was observed at low levels in 81.8 % and 77.4 % and at high levels in 18.2 % and 19.4 % of seminoma and dysgerminoma patients, respectively. Likewise, low expression of PD-L1 in tumor cells was detected in 63.6 % of seminoma and 61.3 % of dysgerminoma patients, while none of the patients exhibited high expression of PD-L1. In seminoma patients, a positive correlation was observed between PD-1 expression in TILs and CD45RO expression and between PD-L1 expression in tumor cells and TILs score. CONCLUSION: The frequent infiltration of CD45RO, along with variable expression of PD-1 and PD-L1 on TILs and tumor cells, could impact the effectiveness of anti-tumor responses and immunotherapy.

Seminoma and dysgerminoma: evidence for alignment of clinical trials and de-escalation of systemic chemotherapy.

Malignant germ cell tumours are a group of rare cancers whose incidence peaks in late adolescence and early adulthood. Dysgerminomas of the ovary and seminomas of the testis are analogous diseases, but seminomas have a 10-fold higher incidence. The two tumours are morphologically identical and are only differentiated by surrounding organ-specific tissue or testicular germ cell neoplasia in situ. They share genetic features including KIT and RAS mutations, amplification of chromosome 12p, and expression of pluripotency markers (NANOG (Nanog homeobox), OCT3/4 (Octamer-binding transcription factor 3/4), and SAL4 (Spalt-like trascription factor 4)). Both histologies are exquisitely sensitive to platinum chemotherapy, and the combination of bleomycin, etoposide, and cisplatin (BEP) yields survival rates greater than 90%. However, BEP causes significant, lifelong toxicity (cardiovascular, renal, respiratory, and neurological) in these young patients with an expectation of cure. Here, we comprehensively review the biological features of dysgerminoma and seminoma to demonstrate that they are biologically analogous diseases. We present available clinical trial data supporting de-escalation of chemotherapy treatment. Finally, we propose that future trials should enrol men, women, and children to benefit all patients regardless of age or sex.

Chylous ascites following retroperitoneal lymphadenectomy in a patient with recurrent dysgerminoma of ovary: A case report.

Chylous ascites is an uncommon condition of accumulation of milky fluid rich in lymph and chylomicrons in the peritoneal cavity. Post-surgical complications following dissection near the base of the mesentery, retroperitoneum, or near the cisterna chyli, malignancies (e.g., pancreatic adenocarcinomas, lymphoma, gastric carcinoma), cirrhosis, and trauma are the prime causes of chylous ascites. Here we report a rare case of chylous ascites following clearance of isolated paraaortic nodal recurrence in a 28-year-old female with dysgerminoma of ovary. The patient developed chylous ascites on the fifth day following surgery, which was confirmed by an increased drain fluid triglyceride level. She was managed conservatively with dietary modification including a high-protein and carbohydrate but low-fat-based diet mainly containing medium-chain fatty acids. Subsequently, she recovered from chylous ascites on the sixteenth day, completed second line chemotherapy, and is now doing well.

Challenging gestational trophoblastic disease cases and mimics: An exemplar for the management of rare tumours.

OBJECTIVE: Rare tumour management is challenging for clinicians as evidence bases are limited and clinical trials are difficult to conduct. It is even more difficult for patients where self-reliance alone is insufficient to overcome the challenges of navigating care which is often poorly evidence based. In Ireland, a national Gestational Trophoblastic Disease (GTD) service was established as one of 3 initiatives for rare tumours by the National Cancer Control Programme. The service has a national clinical lead, a dedicated supportive nursing service and a clinical biochemistry liaison team. This study sought to assess the impact of a GTD centre using national clinical guidelines and integrating and networking with European and International GTD groups on the clinical management of challenging GTD cases and to consider the application of this model of care to other rare tumour management. STUDY DESIGN: In this article, we analyse the impact of a national GTD service on five challenging cases, and review how the service affects patient management in this rare tumour type. These cases were selected from a cohort of patients who were voluntarily registered in the service based on the diagnostic management dilemma they posed. RESULTS: Case management was impacted by the identification of GTD mimics, the provision of lifesaving treatment of metastatic choriocarcinoma with brain metastasis, networking with international colleagues, the identification of early relapse, the use of genetics to differentiate treatment pathways and prognosis, and supportive supervision of treatment courses of up to 2 years of therapy in a cohort of patients starting or completing families. CONCLUSION: The National GTD service could be an exemplar for the management of rare tumours (such as cholangiocarcinoma) in our jurisdiction which could benefit from a similar constellation of supports. Our study demonstrates the importance of a nominated national clinical lead, dedicated nurse navigator support, registration of cases and networking. The impact of our service would be greater if registration was mandatory rather than voluntary. Such a measure would also ensure equity of access for patients to the service, assist in quantifying the need for resourcing and facilitate research to improve outcomes.

Malignant Germ Cell Tumors of the Ovary: Clinical and Imaging Features.

Ovarian malignant germ cell tumors are a diverse set of masses originating from the primitive gonadal germ cells, often in young females. They have useful imaging and clinical features, including serum tumor marker elevation, that may aid the radiologist at the time of diagnosis, and also during follow-up. Accurate and timely diagnosis is essential, as standard-of-care therapies lead to a high rate of cancer remission.

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.

Bilateral Gonadal Dysgerminoma in a Phenotypic Female With 46,XY Disorder of Sexual Development: A Case Report.

The 46,XY disorder of sexual development (DSD) is a rare congenital condition characterized by a 46,XY karyotype associated with complete or disturbed female gonadal development and a non-virilized phenotype. The presence of Y chromosome material in these patients' karyotypes increases the risk of germ cell tumor development. The present study reports a unique case of a 16-year-old phenotypically female patient presenting with primary amenorrhea, who was later diagnosed with 46,XY DSD. After bilateral salpingo-oophorectomy, the patient was diagnosed with stage IIIC dysgerminoma. The patient received four cycles of chemotherapy and showed a good response. The patient is currently alive and well, with no evidence of disease after the residual lymph node resection.

Ovarian Dysgerminoma - Challenging Presurgical Diagnosis and Mini-Mally Invasive Treatment.

Dysgerminoma is a rare malignant germ cell tumor of the ovary that often affects women in reproductive age. The presurgical differentiation of dysgerminoma from benign conditions is challenging. In early stages, malignant dysgerminoma can be treated with fertility sparing surgery. We present a pictorial non-systematic review of literature, discuss diagnostic challenges in ultrasound and radiological imaging and present laparoscopic treatment options in a young woman with dysgerminoma.

Ovarian dysgerminoma: clues to the radiological diagnosis.

Ovarian dysgerminoma (OD) is a rare germ cell tumor accounting for 1%-2% of all malignant ovarian tumors and is generally associated with a good prognosis. The condition is more frequent in young women and can arise in dysgenetic gonads that contain gonadoblastomas. While the definitive diagnosis of OD is only possible histologically, certain radiological features can provide facilitating clues. A large, unilateral, solid, lobulated ovarian tumor with markedly enhancing septa should raise the suspicion of OD in young women. Serum lactate dehydrogenase is characteristically elevated in this tumor type and can complement its diagnosis and postoperative follow-up; however, it is a nonspecific marker. Moreover, knowing the mimickers of OD is essential to optimizing the radiological image interpretation and allowing for adequate management and timely treatment. Therefore, in this article, the radiological and clinical-pathologic features of ODs were reviewed to allow radiologists to become familiarized with them and narrow the diagnostic possibilities when facing this type of tumor.

Dysgerminoma of the Left Ovary in a Patient with Balanced Translocation 46X, t(X:1) (q22;q21): A Case Report.

We report a case of dysgerminoma in a 22-year-old woman diagnosed with chromosomal abnormality, balanced translocation 46X,t(X:1)(q22;q21). She had received hormone replacement therapy for 7 years for primary amenorrhea. She visited a primary care physician because of lower abdominal distension, and a large tumor in the pelvis was discovered. She was admitted to our hospital for further examination of the pelvic tumor. She underwent laparotomy and was diagnosed with stage IIIA1 dysgerminoma (pT3apN0pM0) of the left ovary. Young female patients without the Y chromosome who are treated for primary amenorrhea may also develop malignant germ cell tumors; therefore, gynecologists should provide hormone replacement therapy and periodic pelvic evaluation.