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Archives of Clinical and Medical Case... 2023Dysgerminoma is a rare malignant germ cell tumor of the ovary that often affects women in reproductive age. The presurgical differentiation of dysgerminoma from benign...
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.
PubMed: 36873804
DOI: 10.26502/acmcr.96550573 -
Polish Journal of Pathology : Official... 2022Terminal deoxynucleotidyl transferase (TdT) is a unique type of DNA polymerase predominantly expressed in precursor lymphoid cells and acute lymphoblastic leukemia. It...
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.
Topics: Humans; Male; Female; Animals; Rabbits; DNA Nucleotidylexotransferase; Immunohistochemistry; Biomarkers, Tumor; Neoplasms, Germ Cell and Embryonal; Testicular Neoplasms; Dysgerminoma; Ovarian Neoplasms; DNA-Directed DNA Polymerase
PubMed: 36345953
DOI: 10.5114/pjp.2022.120098 -
Histopathology Jan 2020The classification of ovarian germ cell tumours has remained unchanged for many years, while there have been considerable changes in the testicular classification. In... (Review)
Review
The classification of ovarian germ cell tumours has remained unchanged for many years, while there have been considerable changes in the testicular classification. In recent years there has been concern about the overtreatment of clinical stage 1 testicular germ cell tumours with increasing use of surveillance for low-risk disease. We outline here the current classification of germ cell tumours of the ovary with particular regard to treatment and outcome and highlight some areas which may cause confusion, particularly pertaining to immature teratomas and mixed germ cell tumours. We suggest that some minor changes to the classification, evidenced by a recent retrospective series by some of the authors, may lead to less adjuvant chemotherapy for immature teratomas and may obviate the need for the grading of immature teratomas, by aligning with testicular experience in pure post-pubertal teratomas. Adoption of this will require retrospective and prospective re-evaluation, but may avoid long-term patient morbidity.
Topics: Female; Humans; Male; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms; Ovary; Testicular Neoplasms; Testis
PubMed: 31846529
DOI: 10.1111/his.14016 -
Klinicka Onkologie : Casopis Ceske a... 2019Ovarian tumors in childhood and adolescence are distinguished from those that arise in adulthood by their histological subtype. These tumors may arise as the first...
BACKGROUND
Ovarian tumors in childhood and adolescence are distinguished from those that arise in adulthood by their histological subtype. These tumors may arise as the first manifestation of a cancer predisposition syndrome. Correct diagnosis of the syndrome may offer the possibility of surveillance for other members of the patients family.
PURPOSE
To summarize current knowledge about paediatric ovarian tumors that may be associated with genetically defined cancer syndromes. Juvenile granulosa cell tumors occur in those with Ollier disease and Maffucci syndrome; they are caused by postzygotic IDH1 and IDH2 gene mutations. Sertoli-Leydig cell tumors usually arise in association with DICER1 syndrome, which is caused by germline DICER1 gene mutations. Sex cord tumors with annular tubules and Sertoli cell tumors may arise in patients with Peutz-Jeghers syndrome; this syndrome is caused by germline STK11 gene mutations. The majority of germ cell tumors develop in the context of gonadal dysgenesis. In XY gonadal dysgenesis, the presence of a Y chromosome material renders the patient at increased risk for developing gonadal malignancy. Characteristically, these patients develop gonadoblastoma, which has the potential to evolve into dysgerminoma and exhibit malignant behavior. Sex-chromosome aneuploidy syndromes or mutations in genes involved in gonadal development and differentiation may cause gonadal dysgenesis. Small cell carcinoma of the ovary of a hypercalcaemic type is usually caused by loss-of-function mutations in the SMARCA4 gene.
CONCLUSION
Ovarian tumors are uncommon during childhood and adolescence. It is always necessary to consider gonadal dysgenesis or any of the inherited cancer syndromes. These patients require interdisciplinary care, careful noting of personal and family history, precise clinical examination, laboratory testing, and differential diagnosis by a clinician with a good knowledge of genetic syndromes. Expert pathological review may be required for correct diagnoses. This is necessary for appropriate management and to establish an association with hereditary cancer syndromes. The work was supported by the Ministry of Health of the Czech Republic - Conceptual Development of Research Organization, Faculty Hospital of Ostrava /2015. We thank to Lenka Foretová, M.D., Ph.D., (MMCI, Brno) and Radoslava Tomanová, M.D., (Institute of Pathology, University Hospital Ostrava) for rewarding advice, Mrs. Jana Němcová (Department of Medical Genetics, University Hospital Ostrava), Bc. Ludmila Stuchlá and Mrs. Lenka Zivčáková (Medical Library, University Hospital Ostrava) for help during manuscript preparation. The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. Submitted: 10. 3. 2019 Accepted: 16. 4. 2019.
Topics: Adolescent; Child; Female; Genetic Predisposition to Disease; Humans; Neoplastic Syndromes, Hereditary; Ovarian Neoplasms
PubMed: 31409083
DOI: 10.14735/amko2019S79 -
Medicine May 2020True hermaphroditism is a rare and usually sporadic disorder. It is defined by the presence of both ovarian and testicular tissues together as ovotestis.
INTRODUCTION
True hermaphroditism is a rare and usually sporadic disorder. It is defined by the presence of both ovarian and testicular tissues together as ovotestis.
PATIENT CONCERNS
In this study, we reported a rare true hermaphroditism case with dysgerminoma. A 49-year-old woman developed masses in both inguinal regions for 30 years. Recently 3 months, the patient found that the size of mass in her left inguinal region was significantly increased.
DIAGNOSIS
After surgical resection, the results of immunohistochemical examination in left mass revealed a dysgerminoma with positive expression of placental alkaline phosphatase and octamer-binding transcription factor 3/4, and right mass was a cryptorchidism. Chromosomal analysis revealed the karyotype 46, XY. Combined immunohistochemical and karyotype analysis, a diagnosis of true hermaphroditism with dysgerminoma was made.
INTERVENTIONS
Radiotherapy combined with chemotherapy after tumor resection was used to improve her prognosis. Hormone replacement therapy with conjugated estrogen and medroxyprogesterone acetate were used to maintain her female characteristics.
OUTCOMES
The patient underwent hormonal replacement and has been well for 6 months.
CONCLUSION
The positive expression of placental alkaline phosphatase and octamer-binding transcription factor 3/4 could be 2 diagnosis markers of dysgerminoma. Surgery combined with radiotherapy and chemotherapy could improve the prognosis of dysgerminoma. Moreover, hormone replacement therapy with conjugated estrogen and medroxyprogesterone acetate was very helpful to maintain the female characteristic of patients with true hermaphroditism.
Topics: Diagnosis, Differential; Dysgerminoma; Female; Humans; Male; Middle Aged; Ovarian Neoplasms; Ovotesticular Disorders of Sex Development
PubMed: 32481455
DOI: 10.1097/MD.0000000000020472 -
PloS One 2023Germ cell tumors (GCTs) comprise a rare and heterogeneous group of neoplasms presenting different clinical and histological characteristics, leading to a challenging...
BACKGROUND
Germ cell tumors (GCTs) comprise a rare and heterogeneous group of neoplasms presenting different clinical and histological characteristics, leading to a challenging scenario in clinical practice. Diffusion-weighted imaging (DWI) has been suggested as an indirect marker of tumor density and cellularity and could be used to monitor therapeutic response. However, its role in pediatric GCTs needs to be clarified.
PURPOSE
Here, we evaluated the features of DWI in pediatric extracranial GCTs in a reference Brazilian institution.
MATERIAL AND METHODS
We included 43 pediatric patients with primary GCTs treated between 2008 and 2022 in Hospital de Amor de Barretos. The patients' MRI images included T1-weighted without contrast, T2-weighted, DWI and apparent diffusion coefficient (ADC) maps. DWI was evaluated in the section that exhibited the greatest restricted diffusion in the largest hypersignal area of the image. The lowest ADC value was determined to define the region of interest (ROI). We used a small ROI, avoiding necrotic, adipose tissue, noisy or nonenhancing lesion voxels as recommended. ROI determination was established by visual inspection by two radiologists in accordance. We used two values of b (b = 50 mm2/s or b = 800) for ADC values.
RESULTS
The highest mean ADC (mADC) value was observed in pure teratomas (1,403.50 ± 161.76 x10-3 mm2/s; mean ± SD) compared to other histologies (yolk sac, mixed teratoma, dysgerminoma and mixed GCT) of GCT (p<0.001). Furthermore, ROC analysis determined a cutoff mADC value of 1,179.00 x 10-3 mm2/s that differentiated pure teratomas from the other GCT histologies with a sensitivity of 95.8% and a specificity of 92.9% (AUC = 0.979; p<0.01). A significant increase in mADC was observed for malignant GCTs in treatment (1,197.00 ± 372.00 mm2/s; p<0.001) compared to that exhibited at the time of diagnosis (780.00 ± 168.00 mm2/s; mean ± SD. Our findings suggest that mADC assessment could be used as a tool to distinguish pure teratomas from malignant CGT histologies at diagnosis. Additionally, we demonstrated reasonable evidence that it could be used as a complementary tool to monitor treatment response in patients with malignant GCT.
Topics: Humans; Child; Diffusion Magnetic Resonance Imaging; Magnetic Resonance Imaging; ROC Curve; Neoplasms, Germ Cell and Embryonal; Diagnosis, Differential; Teratoma; Sensitivity and Specificity
PubMed: 38033015
DOI: 10.1371/journal.pone.0294976 -
SAGE Open Medical Case Reports 2022We report on the case of a patient with dysgerminoma, a rare germ cell tumor, which showed hypercalcemia with an elevation of 1α,25-dihydroxycholecalciferol...
We report on the case of a patient with dysgerminoma, a rare germ cell tumor, which showed hypercalcemia with an elevation of 1α,25-dihydroxycholecalciferol (calcitriol). A 27-year-old nulliparous woman presented with hypercalcemia during the examination of a right ovarian tumor with an elevation of calcitriol, lactate dehydrogenase, and alkaline phosphatase. Fractional excretion of calcium was elevated, and intact parathyroid hormone was suppressed. After undergoing right salpingo-oophorectomy, the patient's serum calcium and calcitriol returned to the normal range within a week. A literature search was conducted on the topic by reviewing databases for dysgerminoma showing hypercalcemia. We identified 14 patients from the literature and performed a pooled analysis, including the results of our case. However, most cases lack data that can help investigate the potential association between parathyroid hormone, parathyroid hormone-related protein, calcitriol, and phosphorus in hypercalcemia. Thus, more case reports that include additional information are required to fully elucidate the mechanism of hypercalcemia associated with dysgerminoma.
PubMed: 35070316
DOI: 10.1177/2050313X211068562 -
The Journal of Pathology Jan 2022Germ cell tumors (GCTs) originate during the histogenesis of primordial germ cells to mature gametes. Previous studies identified five histogenic mechanisms in ovarian...
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.
Topics: Humans; Loss of Heterozygosity; Male; Molecular Biology; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms; Seminoma; Teratoma; Testicular Neoplasms
PubMed: 34561860
DOI: 10.1002/path.5799 -
Journal of Internal Medicine Jun 2024Both ovarian and testicular germ cell tumors (GCTs) arise from the primordial germ cell and share many similarities. Both malignancies affect mainly young patients, show... (Review)
Review
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.
Topics: Humans; Testicular Neoplasms; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms; Male; Prognosis; Female
PubMed: 38468475
DOI: 10.1111/joim.13778 -
Radiology Case Reports Aug 2024Ovarian 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...
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.
PubMed: 38872745
DOI: 10.1016/j.radcr.2024.04.074