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Gynecologic Oncology Mar 2023We previously developed preoperative and pre-chemotherapy modified versions of the male International Germ Cell Cancer Collaborative Group (IGCCCG) prognostic model and...
OBJECTIVE
We previously developed preoperative and pre-chemotherapy modified versions of the male International Germ Cell Cancer Collaborative Group (IGCCCG) prognostic model and assessed it in female patients with germ cell tumors (GCTs). We sought to validate these modified IGCCCG (mIGCCCG) models in a new cohort.
METHODS
We queried institutional databases for female patients with GCTs treated at Memorial Sloan Kettering Cancer Center from 1/1/1990-6/1/2020. The mIGCCCG model classifies patients with non-dysgerminomas as good, intermediate, or poor risk based on tumor markers using male IGCCCG cutoffs and absence/presence of non-pulmonary/peritoneal visceral metastasis. In dysgerminomas, good- and intermediate-risk groups are defined by absence/presence of non-pulmonary/peritoneal visceral metastasis. Progression-free survival (PFS) and overall survival (OS) were estimated for each group in the validation and combined original and validation cohorts. Associations between individual clinical factors and outcomes were evaluated.
RESULTS
Among 183 female patients with GCTs, clinical characteristics and outcomes were similar between the original (n = 93) and validation (n = 90) cohorts. In multivariable models, higher stage, older age, and non-dysgerminoma histology predicted worse PFS and OS (p < 0.05). Among 162 patients who received chemotherapy, preoperative and pre-chemotherapy mIGCCCG models were significantly associated with PFS and OS (p < 0.001 for all groups). With the preoperative model, 3-year PFS rates were 94%, 76%, and 50% in the good-, intermediate-, and poor-risk patients, respectively; OS rates were 96%, 86%, and 52%, respectively. Even within stage groups, mIGCCCG risk classifications were associated with clinical outcomes.
CONCLUSIONS
A female-specific mIGCCCG risk model effectively stratifies patients and should be incorporated into clinical trials.
Topics: Humans; Male; Female; Prognosis; Neoplasms, Germ Cell and Embryonal; Progression-Free Survival; Biomarkers, Tumor; Dysgerminoma; Ovarian Neoplasms; Retrospective Studies; Antineoplastic Combined Chemotherapy Protocols
PubMed: 36669327
DOI: 10.1016/j.ygyno.2022.12.022 -
Case Reports in Pathology 2021Dysgerminoma is a malignant ovarian germ cell tumor, and unlike sex-cord stromal tumors, endocrine manifestation is considered rare. Here, we report the first case of...
Dysgerminoma is a malignant ovarian germ cell tumor, and unlike sex-cord stromal tumors, endocrine manifestation is considered rare. Here, we report the first case of dysgerminoma presenting precocious puberty. The patient is a 7-year-old girl who presented with a breast development in Tanner stage 3. Serum estradiol (E) was markedly elevated while luteinizing hormone (LH) and follicle-stimulating hormone (FSH) were suppressed below the detection limit. Microscopically, the right ovarian mass displayed nests of large polygonal cells and fibrous septa which were focally concentrated by theca-like plump spindle cells. Immunohistochemistry revealed that the spindle cells expressed various steroidogenic enzymes involved in estrogen biosynthesis including P450 aromatase. The tumor was diagnosed with pure dysgerminoma with estrogen-producing functioning stroma. After the operation, serum E declined below the detection limit; LH and FSH returned within the normal range. This case demonstrates that even a conventional dysgerminoma can present endocrine manifestation through functioning stroma.
PubMed: 34055440
DOI: 10.1155/2021/5545645 -
BMC Pregnancy and Childbirth Sep 2021Ovarian 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...
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.
Topics: Adult; Diagnosis, Differential; Dysgerminoma; Dystocia; Female; Hemoperitoneum; Humans; Incidental Findings; Ovarian Neoplasms; Pregnancy; Pregnancy Complications, Neoplastic; Treatment Outcome
PubMed: 34493243
DOI: 10.1186/s12884-021-04063-2 -
Molecular Cancer Jul 2009RNF139/TRC8 is a potential tumor suppressor gene with similarity to PTCH, a tumor suppressor implicated in basal cell carcinomas and glioblastomas. TRC8 has the...
BACKGROUND
RNF139/TRC8 is a potential tumor suppressor gene with similarity to PTCH, a tumor suppressor implicated in basal cell carcinomas and glioblastomas. TRC8 has the potential to act in a novel regulatory relationship linking the cholesterol/lipid biosynthetic pathway with cellular growth control and has been identified in families with hereditary renal (RCC) and thyroid cancers. Haploinsufficiency of TRC8 may facilitate development of clear cell-RCC in association with VHL mutations, and may increase risk for other tumor types. We report a paternally inherited balanced translocation t(8;22) in a proposita with dysgerminoma.
METHODS
The translocation was characterized by FISH and the breakpoints cloned, sequenced, and compared. DNA isolated from normal and tumor cells was checked for abnormalities by array-CGH. Expression of genes TRC8 and TSN was tested both on dysgerminoma and in the proposita and her father.
RESULTS
The breakpoints of the translocation are located within the LCR-B low copy repeat on chromosome 22q11.21, containing the palindromic AT-rich repeat (PATRR) involved in recurrent and non-recurrent translocations, and in an AT-rich sequence inside intron 1 of the TRC8 tumor-suppressor gene at 8q24.13. TRC8 was strongly underexpressed in the dysgerminoma. Translin is underexpressed in the dysgerminoma compared to normal ovary.TRC8 is a target of Translin (TSN), a posttranscriptional regulator of genes transcribed by the transcription factor CREM-tau in postmeiotic male germ cells.
CONCLUSION
A role for TRC8 in dysgerminoma may relate to its interaction with Translin. We propose a model in which one copy of TRC8 is disrupted by a palindrome-mediated translocation followed by complete loss of expression through suppression, possibly mediated by miRNA.
Topics: Child; Chromosome Mapping; Chromosomes, Human, Pair 22; Chromosomes, Human, Pair 8; DNA-Binding Proteins; Dysgerminoma; Female; Gene Expression Regulation, Neoplastic; Genes, Tumor Suppressor; Genetic Predisposition to Disease; Humans; Immunohistochemistry; Lymphocytes; Male; Ovarian Neoplasms; Ovary; Receptors, Cell Surface; Translocation, Genetic; Von Hippel-Lindau Tumor Suppressor Protein
PubMed: 19642973
DOI: 10.1186/1476-4598-8-52 -
Cureus Apr 2024Germ cell tumors are malignant tumors that mostly develop in the gonads. Extragonadal localization is rare and may affect the mediastinal and sacrococcygeal regions....
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.
PubMed: 38707071
DOI: 10.7759/cureus.57504 -
Chinese Medical Journal Aug 2017
Review
Topics: Adolescent; Dysgerminoma; Female; Gonadal Dysgenesis, 46,XY; Gonadoblastoma; Humans; Hysteroscopy; Lymph Nodes; Lymphatic Metastasis; Ovarian Neoplasms
PubMed: 28748865
DOI: 10.4103/0366-6999.211548 -
Polish Journal of Pathology : Official... 2016We present a case of a woman with primary amenorrhea. Ultrasound imaging showed a uterus of normal size but bands of connective tissues at the site of ovaries. A genetic...
We present a case of a woman with primary amenorrhea. Ultrasound imaging showed a uterus of normal size but bands of connective tissues at the site of ovaries. A genetic test was done which revealed the XY karyotype. Swyer syndrome was diagnosed. The patient did not report for the follow-up visits. Three years later, the woman reported back because of increasing abdominal circumference. The patient underwent an operation. Radical hysterectomy was performed. Histopathological examination showed dysgerminoma and gonadoblastoma on the left gonad and dysgerminoma on the right one. This case report presents the natural history of Swyer syndrome.
Topics: Adolescent; Dysgerminoma; Female; Gonadal Dysgenesis, 46,XY; Gonadoblastoma; Gonads; Humans
PubMed: 28547971
DOI: 10.5114/pjp.2016.65876 -
Ginekologia Polska 2022Pure 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...
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.
Topics: Dysgerminoma; Female; Gonadal Dysgenesis; Gonadal Dysgenesis, 46,XY; Gonads; Humans; Ovarian Neoplasms
PubMed: 35730347
DOI: 10.5603/GP.a2022.0029 -
Medicine Nov 2020Ovarian dysgerminoma (OD) mostly affect young women, have a rapid growth rate, and could result in complications such as rupture, hemoperitoneum or torsion, and acute...
INTRODUCTION
Ovarian dysgerminoma (OD) mostly affect young women, have a rapid growth rate, and could result in complications such as rupture, hemoperitoneum or torsion, and acute abdomen. However, there have been no reports of OD on F-FDG PET/CT imaging.
PATIENT CONCERNS
A 21-year-old female patient was admitted to our hospital on February 6, 2016, due to "reduced menstrual flow with abdominal distension for 3 months".
DIAGNOSIS
Color Doppler ultrasound showed a large solid mass in the abdomen and pelvis. Serum carbohydrate antigen 125 (CA125) was elevated significantly. Subsequent computed tomography (CT) of chest showed a large effusion in the right thoracic cavity. Abdominal CT scan revealed the presence of a solid mass occupying a large space in the middle and lower abdomen, suggesting that it derived from the left ovary. Then, she underwent F-fluoro-2-deoxy-D-glucose (F-FDG) positron emission tomography (PET)/CT examination for further diagnosis and staging. PET/CT showed a large occupying lesion in the abdomen. The maximum standardized uptake (SUVmax) of F-FDG was 15.8. No obvious hypermetabolic metastases were observed in the other parts of the body. Postoperative pathology and immunohistochemistry confirmed the ovarian dysgerminoma.
INTERVENTIONS
The patient underwent surgery. Chemotherapy was successfully carried out post-operation.
OUTCOMES
Fortunately, the patient is responding well to treatment and the postoperative recurrence-free survival time has been more than 3 years.
CONCLUSION
OD usually occurs in young women and is characterized by large solid pelvic mass. The F-FDG PET/CT scan shows abnormally increased metabolism of the tumor. Because of the high metabolic characteristics, F-FDG PET/CT may be of great significance in the diagnosis and staging of OD.
Topics: Dysgerminoma; Female; Fluorodeoxyglucose F18; Humans; Ovarian Neoplasms; Positron Emission Tomography Computed Tomography; Radiopharmaceuticals; Young Adult
PubMed: 33157971
DOI: 10.1097/MD.0000000000023074 -
Frontiers in Endocrinology 202217α-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... (Review)
Review
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 gene and that her parents were all heterozygous carriers of this pathogenic variant. Due to the variable clinical manifestations of 17-OHD, meticulous assessment including genetic analysis is necessary. Further study is warranted to unravel the mechanism of gonadoblastoma in a patient with normal karyotypes.
Topics: Humans; Female; Child; Dysgerminoma; Mixed Function Oxygenases; Gonadoblastoma; Hydrocortisone; Ovarian Neoplasms; Karyotype; Lyases
PubMed: 36589847
DOI: 10.3389/fendo.2022.989695