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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 -
Frontiers in Oncology 2024Mixed germ cell tumors (mGCTs) involving both the ovaries and sellar region have been rarely reported; thus, they pose significant challenges in clinical management. Our...
Mixed germ cell tumors (mGCTs) involving both the ovaries and sellar region have been rarely reported; thus, they pose significant challenges in clinical management. Our report of a case of a 26-year-old female with left ovarian mGCTs (dysgerminoma + yolk sac tumor) who presented with postoperative headaches and blurred vision contributes new information to the literature on treating mGCTs, which can lead to standardized regimens and sequencing guidelines. A physical examination revealed right temporal hemianopia, and elevated levels of alpha-fetoprotein were detected in serum and cerebrospinal fluid. Magnetic resonance imaging (MRI) of the sellar region revealed a space-occupying lesion. Pathological examination of the tumor after endoscopic transnasal resection confirmed the diagnosis of mGCTs (germinomas + yolk sac tumor). The patient received adjuvant chemotherapy and radiotherapy at reduced dosages. During follow-up, tumor markers remained within normal limits, and there was no evidence of tumor recurrence on sellar region MRI. This case highlights the rarity of the simultaneous occurrence of ovarian and sellar region mGCTs and emphasizes the importance of accurate diagnosis and multidisciplinary management.
PubMed: 38835384
DOI: 10.3389/fonc.2024.1360158 -
Clinical Case Reports Jun 2024Fertility-sparing surgery and appropriate adjuvant chemotherapy for advanced malignant ovarian germ cell tumors have excellent survival results and promising...
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.
PubMed: 38827934
DOI: 10.1002/ccr3.9020 -
Molecular Oncology Jun 2024microRNAs (miRNAs) are small endogenous noncoding RNAs, and alterations in their expression may contribute to oncogenesis. Discovering a unique miRNA pattern holds the...
microRNAs (miRNAs) are small endogenous noncoding RNAs, and alterations in their expression may contribute to oncogenesis. Discovering a unique miRNA pattern holds the potential for early detection and novel treatment possibilities in cancer. This study aimed to evaluate miRNA expression in pediatric patients with gonadal germ cell tumors (GCTs), focusing on characterizing the miRNA profiles of each histological subtype and identifying a distinct histological miRNA signature for a total of 42 samples of pediatric gonadal GCTs. The analysis revealed distinct miRNA expression profiles for all histological types, regardless of the primary site. We identified specific miRNA expression signatures for each histological type, including 34 miRNAs for dysgerminomas, 13 for embryonal carcinomas, 25 for yolk sac tumors, and one for immature teratoma, compared to healthy controls. Furthermore, we identified 26 miRNAs that were commonly expressed in malignant tumors, with six miRNAs (miR-302a-3p, miR-302b-3p, miR-371a-5p, miR-372-3p, miR-373-3p, and miR-367-3p) showing significant overexpression. Notably, miR-302b-3p exhibited a significant association with all the evaluated clinical features. Our findings suggest that miRNAs have the potential to aid in the diagnosis, prognosis, and management of patients with malignant GCTs.
Topics: Humans; MicroRNAs; Neoplasms, Germ Cell and Embryonal; Biomarkers, Tumor; Child; Male; Female; Gene Expression Regulation, Neoplastic; Adolescent; Child, Preschool; Gene Expression Profiling; Infant; Testicular Neoplasms
PubMed: 38725152
DOI: 10.1002/1878-0261.13617 -
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 -
A Comprehensive Review of Current Trends in the Diagnosis and Treatment of Ovarian Germ Cell Tumors.Cureus Jan 2024Ovarian germ cell tumors constitute a rare and intricate spectrum of neoplasms characterized by diverse histological subtypes. This comprehensive review elucidates the... (Review)
Review
Ovarian germ cell tumors constitute a rare and intricate spectrum of neoplasms characterized by diverse histological subtypes. This comprehensive review elucidates the classification, diagnosis, treatment, prognosis, and unique challenges associated with these tumors. The classification is rooted in histological attributes, with principal subtypes encompassing dysgerminoma, immature teratoma, yolk sac tumor (endodermal sinus tumor), choriocarcinoma, and mixed germ cell tumors. Each subtype bears distinct characteristics and clinical implications, necessitating precise diagnosis and tailored therapeutic strategies. Diagnosis hinges upon recognizing the broad clinical presentation, employing imaging techniques (such as ultrasound and MRI), evaluating tumor markers (alpha-fetoprotein and beta-human chorionic gonadotropin), and conducting histopathological examinations where necessary. Staging, primarily utilizing the International Federation of Gynecology and Obstetrics (FIGO) system, is pivotal in determining the extent of disease, guiding treatment choices, and facilitating prognostic assessment. Treatment modalities encompass surgery, chemotherapy (including standard regimens and emerging therapies), radiation therapy, targeted therapies, and immunotherapy. Prognosis is influenced by histological subtype, tumor stage, patient age, surgical success, response to chemotherapy, and tumor markers, while predictive biomarkers are continually emerging. Despite advances in treatment, ovarian germ cell tumors pose distinct challenges, including late diagnosis, treatment-related side effects, and the enigma of chemoresistance. An integral aspect of comprehensive care is supportive strategies to manage symptoms and offer psychological and emotional support. This review accentuates the vital role of early diagnosis and multidisciplinary care in optimizing outcomes. Future research directions and evolving clinical practices are explored in these intricate and distinctive malignancies, highlighting the dynamic landscape of ovarian germ cell tumors.
PubMed: 38380211
DOI: 10.7759/cureus.52650 -
Journal of Ovarian Research Feb 2024Fertility preservation for adolescent pubescent girls is a concern of the healthcare system and parents. Oocyte cryopreservation is regarded as a standard medical...
BACKGROUND
Fertility preservation for adolescent pubescent girls is a concern of the healthcare system and parents. Oocyte cryopreservation is regarded as a standard medical intervention for patients with a minimum age of 18 years. Evidence suggests that mature oocyte cryopreservation is possible for adolescent pubescent girls, although, ovarian stimulation for these patients remains a challenge.
CASES PRESENTATION
This case series is the first report regarding ovarian stimulation with oocyte cryopreservation in younger than 18 years cancerous girls, who refer to ROYAN institute, Tehran, Iran, prior to the start of the treatment of cancer (November 2015 to February 2021). The oocyte cryopreservation was carried out in the 7 patients (five patients with Hodgkin lymphoma, one patient with Ewing sarcoma, and one patient with osteogenic tumor), the embryo cryopreservation in one patient with dysgerminoma, and the oocyte and embryo cryopreservation in one patient with germ cell tumor. No oocytes were retrieved after ovarian stimulation in the patient with medulloblastoma. For one of the patients with Hodgkin lymphoma, half of the tissues of one ovary were cryopreserved prior to ovarian stimulation.
CONCLUSIONS
Oocyte cryopreservation is a feasible option of fertility preservation in the adolescent's patients with cancer. However, only if reported acceptable fertilization rates, as well as the successful cases of live birth from oocyte cryopreservation at the ages under 18, this option of preserving fertility can be applied to this age range.
Topics: Female; Adolescent; Humans; Hodgkin Disease; Iran; Fertility Preservation; Cryopreservation; Oocyte Retrieval; Ovulation Induction; Ovarian Neoplasms
PubMed: 38317250
DOI: 10.1186/s13048-024-01352-0 -
Frontiers in Genetics 2023Dysgerminoma is a rare occurrence in Turner syndrome patients without Y chromosome mosaicism or hormone therapy during puberty. We present a unique case of a 33-year-old...
Dysgerminoma is a rare occurrence in Turner syndrome patients without Y chromosome mosaicism or hormone therapy during puberty. We present a unique case of a 33-year-old nulliparous Chinese woman with intermittent epilepsy and Mullerian anomalies carrying a double uterus, cervix, and vagina. The patient is also characterized as having Turner syndrome accompanied by 46,X, del(Xp22.33-11.23) and del(2)(q11.1-11.2). MRI exhibited a 17.0 cm × 20.0 cm × 10.5 cm solid ovarian lesion. Radical surgery and pathology revealed dysgerminoma at stage IIIc with lymphatic metastases and a KIT gene mutation identified in exon 13. Furthermore, the tumor microenvironment (TME) displayed robust expression of CD4 T lymphocytes and PD-1, whereas the distribution of CD8 T lymphocytes and PDL-1 was sporadic. Despite the administration of enoxaparin to prevent thromboembolism, the patient experienced multiple cerebral infarctions during chemotherapy. Subsequently, the patient chose to decline further treatment and was discharged. This exceptional case imparts several noteworthy lessons. First, the coexistence of Mullerian anomalies, although rare, is not incompatible with Turner syndrome. Second, screening for KIT mutations is imperative to reduce the risk of dysgerminoma in Turner syndrome, especially for patients with Y mosaicism who are recommended for hormone replacement therapy. Lastly, comprehensive anticoagulation therapy is crucial for Turner syndrome patients undergoing cisplatin-based chemotherapy.
PubMed: 38283145
DOI: 10.3389/fgene.2023.1286515 -
Indian Journal of Cancer Oct 2023To study the prevalence, subtypes, and risk markers for the development of gonadal germ cell tumors (GCT's) among disorders of sexual differentiation (DSD) patients with...
Prevalence, distribution, and risk markers for the development of gonadal germ cell tumors in patients with certain types of disorders of sexual differentiation with Y chromosome - A retrospective study.
PURPOSE
To study the prevalence, subtypes, and risk markers for the development of gonadal germ cell tumors (GCT's) among disorders of sexual differentiation (DSD) patients with the Y chromosome.
MATERIALS AND METHOD
Design: A retrospective review of the patient's case records from 2010 to 2020 in Government Medical College, Thiruvananthapuram, India was studied. The study participants included 54 subjects with DSD containing the Y chromosome. Demographic data, external masculinization scoring, associated congenital anomalies, karyotyping, intraoperative findings such as gonadal location and internal genital ducts, histopathology of the resected gonads, and its immunohistochemistry were collected. The prevalence of gonadal GCT's was estimated from paraffin-embedded gonadectomy samples (S = 82).
RESULTS
The median age of occurrence of gonadal GCT's was 18 years. The prevalence of malignant gonadal GCT's was highest among the PAIS group (19.2%) followed by gonadal dysgenesis (15.8% each in MGD and CGD) and least among CAIS (7.7%) (p < 0.01). The most common type of malignant gonadal GCT's in the descending order of frequency was dysgerminoma, seminoma, mixed GCT, and yolk sac tumor. Multivariance logistic analysis showed post-puberty and the presence of congenital anomalies were associated with the occurrence of gonadal GCT's ( P < 0.01).
CONCLUSION
The overall prevalence of gonadal GCT's (malignant and premalignant) among DSD with Y chromosomes is nearly 25%. Dysgerminoma is the most common malignant gonadal GCT's. Age at or above 18 years and the presence of congenital anomalies like renal agenesis, retroperitoneal vascular defects, and congenital diaphragmatic hernia were independent risk markers for the development of gonadal GCT's.
Topics: Female; Humans; Adolescent; Retrospective Studies; Dysgerminoma; Sex Differentiation; Prevalence; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms; Y Chromosome
PubMed: 38078466
DOI: 10.4103/ijc.IJC_1218_20 -
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