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Journal of Ovarian Research Sep 2019Gonadoblastoma (GB) is a rare mixed germ cell-sex cord-stromal tumour, first described in humans, commonly found in dysgenetic gonads of intersex patients that have a Y...
BACKGROUND
Gonadoblastoma (GB) is a rare mixed germ cell-sex cord-stromal tumour, first described in humans, commonly found in dysgenetic gonads of intersex patients that have a Y chromosome. However, this entity in not recognized in the WHO classification of tumours of genital system of domestic animals. Herein, we describe a case of ovarian gonadoblastoma with proliferation of dysgerminoma and sex cord-stromal tumour components, in a phenotypically and cytogenetically normal bitch.
CASE PRESENTATION
A 17-year-old cross-breed bitch had a firm, grey-white multinodular mass in the left ovary. The tumour was submitted to histopathological examination and Y chromosome detected through karyotype analysis and PCR studies. Microscopically, the ovary was almost replaced by an irregular neoplasm composed of three distinct, intermixed elements: dysgerminoma, mixed germ cell-sex cord-stromal tumour resembling human GB and a proliferative sex cord-stromal tumour component. The germ cells of gonadoblastoma and dysgerminoma components were immunoreactive for c-KIT. Sex cord-stromal cells of gonadoblastoma were immunoreactive for α-inhibin. The sex cord-stromal tumour was immunoreactive for AE1/AE3, occasionally for α-inhibin and negative for epithelial membrane antigen (EMA). The karyotype was 78, XX and PCR analysis confirmed the absence of the Y chromosome.
CONCLUSION
Based on these findings, a diagnosis of gonadoblastoma with proliferation of dysgerminoma and sex cord-stromal tumour was made. This is the first case of ovarian gonadoblastoma in a female dog.
Topics: Adult; Animals; Cell Proliferation; Dog Diseases; Dogs; Dysgerminoma; Female; Gonadoblastoma; Humans; Karyotype; Ovarian Neoplasms; Ovary; Phenotype; Proto-Oncogene Proteins c-kit; Sex Cord-Gonadal Stromal Tumors; Stromal Cells; Y Chromosome
PubMed: 31547830
DOI: 10.1186/s13048-019-0561-x -
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 -
BMJ Case Reports Jun 2013Bleomycin is a chemotherapeutic agent used in the treatment of different tumours. It has several side effects, including flagellate hyperpigmentation, which is a unique...
Bleomycin is a chemotherapeutic agent used in the treatment of different tumours. It has several side effects, including flagellate hyperpigmentation, which is a unique and a well-documented side effect of bleomycin therapy. We report a case of a 23-year-old woman with a personal history of ovarian dysgerminoma, who developed flagellate hyperpigmentation on trunk after bleomycin therapy.
Topics: Adult; Antibiotics, Antineoplastic; Bleomycin; Combined Modality Therapy; Dysgerminoma; Female; Humans; Hyperpigmentation; Ovarian Neoplasms; Treatment Outcome; Young Adult
PubMed: 23744859
DOI: 10.1136/bcr-2013-009745 -
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 -
Journal of Clinical Pathology Sep 1992Most patients with gonadoblastoma have dysgenetic gonads. This rare tumour has been described in three pregnant women. A fourth case in a 26 year old pregnant woman who...
Most patients with gonadoblastoma have dysgenetic gonads. This rare tumour has been described in three pregnant women. A fourth case in a 26 year old pregnant woman who presented with gonadoblastoma and dysgerminoma, is reported. She had a normal term pregnancy, 46XX chromosomes, normal genitalia, no history of menstrual irregularities and no signs of hyperandrogenism, thereby differing from the other reported cases. The germ cell component of this patient's tumour had undergone rapid overgrowth, most of the tumour comprising pure dysgerminoma. It is suggested that gonadoblastoma may occur in functionally and morphologically normal gonads more often than previous case reports imply.
Topics: Adult; Dysgerminoma; Female; Fertility; Humans; Ovarian Neoplasms; Pregnancy; Pregnancy Complications, Neoplastic
PubMed: 1401220
DOI: 10.1136/jcp.45.9.828 -
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 -
Reproduction & Fertility Apr 2021The Ubiquitous Transcribed Y ( a.k.a. ) AZFa candidate gene on the human Y chromosome and its paralog on the X chromosome, (a.k.a. ), encode a histone lysine...
UNLABELLED
The Ubiquitous Transcribed Y ( a.k.a. ) AZFa candidate gene on the human Y chromosome and its paralog on the X chromosome, (a.k.a. ), encode a histone lysine demethylase removing chromatin H3K27 methylation marks at genes transcriptional start sites for activation. Both proteins harbour the conserved Jumonji C (JmjC) domain, functional in chromatin metabolism, and an extended N-terminal tetratricopeptide repeat (TPR) block involved in specific protein interactions. Specific antisera for human UTY and UTX proteins were developed to distinguish the expression of both proteins in human germ cells by immunohistochemical experiments on appropriate tissue sections. In the male germ line, UTY was expressed in the fraction of A spermatogonia located at the basal membrane, probably including spermatogonia stem cells. UTX expression was more spread in all spermatogonia and in early spermatids. In female germ line, UTX expression was found in the primordial germ cells of the ovary. UTY was also expressed during fetal male germ cell development, whereas UTX expression was visible only at distinct gestation weeks. Based on these results and the conserved neighboured location of and in Yq11 found in mammals of distinct lineages, we conclude that such as is part of the Azoospermia factor a (AZFa) locus functioning in human spermatogonia to support the balance of their proliferation-differentiation rate before meiosis. Comparable UTY and DDX3Y expression was also found in gonadoblastoma and dysgerminoma cells found in germ cell nests of the dysgenetic gonads of individuals with disorders of sexual development and a Y chromosome in karyotype (DSD-XY). This confirms that AZFa overlaps with GBY the Gonadoblastoma susceptibility Y locus, and includes the gene.
LAY SUMMARY
AZFa Y genes are involved in human male germ cells development and support gonadoblastoma (germ cell tumour precursor cells) in the aberrant germ cells of the gonads of females with genetic disorders of sexual development. The AZFa gene on the male Y chromosome is equivalent to on the female X chromosome. These genes are involved in removing gene regulators to enable activation of other genes (i.e. removal of histone methylation known as epigenetic modifications). We wanted to learn the function of UTY and UTX in developing sperm and eggs in human tissues and developed specific antibodies to detect both proteins made by these genes. Both UTY and UTX proteins were detected in adult and fetal sperm precursor cells (spermatogonia). UTX was detected in egg precursor cells (primordial germ cells). UTY was detected in gonadoblastoma and dysgerminoma tumour cells (germ cell tumours originating from genetic disorders of sexual development due to having a Y chromosome). Based on our study, we conclude that UTY is not only part of AZFa, but also of GBY the overlapping gonadoblastoma susceptibility Y region.
Topics: Adult; Animals; Chromatin; Chromosomes, Human, Y; DEAD-box RNA Helicases; Dysgerminoma; Female; Gonadoblastoma; Histone Demethylases; Humans; Male; Mammals; Minor Histocompatibility Antigens; Neoplasms, Germ Cell and Embryonal; Nuclear Proteins; Ovarian Neoplasms; Semen; Spermatogonia
PubMed: 35128450
DOI: 10.1530/RAF-20-0049 -
The American Journal of Pathology Jun 1977
Review
Topics: Adenocarcinoma; Adenocarcinoma, Mucinous; Adrenal Rest Tumor; Brenner Tumor; Carcinoma; Disorders of Sex Development; Dysgerminoma; Endometriosis; Female; Fibroma; Granulosa Cell Tumor; Hormones, Ectopic; Humans; Leydig Cell Tumor; Ovarian Neoplasms; Ovary; Sertoli Cell Tumor; Sertoli-Leydig Cell Tumor; Teratoma; Thecoma
PubMed: 194486
DOI: No ID Found -
Cancer May 2011Dysgerminoma, the ovarian counterpart of seminoma, is the most common type of malignant ovarian germ cell tumor. The role of KIT mutation and amplification in the...
BACKGROUND
Dysgerminoma, the ovarian counterpart of seminoma, is the most common type of malignant ovarian germ cell tumor. The role of KIT mutation and amplification in the development of dysgerminoma is not currently established. The purpose of this study was to analyze alterations of the KIT gene in a large series of dysgerminomas and correlate the findings with clinicopathological parameters.
METHODS
Dysgerminoma cells from 22 patients were analyzed for KIT mutations at exon 17 codon 816. KIT amplification and chromosome 12p anomalies were investigated by way of dual color fluorescence in situ hybridization. KIT protein expression was also examined by way of immunohistochemistry.
RESULTS
KIT exon 17 codon 816 mutations and KIT amplification were each detected in 6 cases of dysgerminoma (27%); however, there was no correlation between these 2 factors. KIT expression was detected in 87% of dysgerminomas. The KIT mutation was associated with advanced pathological stage (P < .05), and KIT amplification was associated with elevated KIT protein expression (P < .05). Chromosome 12p anomalies were found in 82% of the dysgerminomas and did not correlate with KIT abnormalities.
CONCLUSIONS
KIT mutations occur in approximately one-third of cases of dysgerminomas and are associated with advanced stage at presentation. KIT is a potential therapeutic target for those dysgerminomas that have the mutation.
Topics: Adolescent; Adult; Biomarkers, Tumor; Child; Dysgerminoma; Female; Gene Amplification; Humans; Middle Aged; Mutation; Ovarian Neoplasms; Proto-Oncogene Proteins c-kit
PubMed: 21523721
DOI: 10.1002/cncr.25794 -
Medicina (Kaunas, Lithuania) May 2021Ovarian malignant germ cell tumors (OMGCT) represent less than 10% of all ovarian tumors. Dysgerminoma is the most common malignant primitive germ cell tumor in young... (Review)
Review
Ovarian malignant germ cell tumors (OMGCT) represent less than 10% of all ovarian tumors. Dysgerminoma is the most common malignant primitive germ cell tumor in young women, known for its curability and low propensity to invade and metastasize when diagnosed early. Herein, we report an unusual type of ovarian dysgerminoma (OD) metastasis with a brief review of the literature, lacking similar reported cases. To our knowledge, although there are several case reports of dysgerminoma metastases with variable anatomic location and presentation, vaginal metastasis has not been previously described. The local or systemic relapse together with local and distant metastasis is considered as an independent predictor of poor survival in patients with OD. In light of the absence of mutations status, our patient successfully responded to therapy. Currently, the patient remains in clinical remission. A specific follow-up plan is ongoing knowing that ovarian dysgerminomas tend to recur most often in the first 2-3 years after treatment.
Topics: Dysgerminoma; Female; Humans; Mutation; Neoplasm Recurrence, Local; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms
PubMed: 34071828
DOI: 10.3390/medicina57060534