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Medicine Jun 2024Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result...
BACKGROUND
Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or androgen synthesis.
METHODS
We present 2 rare cases of 46, XY DSD, specifically XY pure gonadal dysgenesis and complete androgen insensitivity syndrome.
RESULTS
Both cases underwent prophylactic gonadectomy due to the elevated risk of gonadal malignancy. Bilateral gonadoblastoma and dysgerminoma were diagnosed on one side, while Leydig cell hyperplasia and only Sertoli cells were diagnosed in the seminiferous tubules on both sides. The normal menstruation for the pure gonadal dysgenesis patient only as CAIS patients never menstruate. Estrogen replacement therapy was administered periodically to promote the development of secondary sexual characteristics and menstruation in pure gonadal dysgenesis case, as well as to prevent osteoporosis. Follow-up examinations revealed no tumor recurrence, and the patient with Swyer syndrome had regular menstrual cycles.
CONCLUSION
Laparoscopic bilateral prophylactic gonadectomy and long-term hormone therapy with patient counseling and support are recommended.
Topics: Humans; Androgen-Insensitivity Syndrome; Male; Gonadal Dysgenesis, 46,XY; Female; Gonadoblastoma
PubMed: 38905377
DOI: 10.1097/MD.0000000000038297 -
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 -
Zhonghua Bing Li Xue Za Zhi = Chinese... Jun 2024
Topics: Female; Humans; Dysgerminoma; Endodermal Sinus Tumor; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms; Sex Cord-Gonadal Stromal Tumors; Teratoma; Testicular Neoplasms
PubMed: 38825917
DOI: 10.3760/cma.j.cn112151-20231025-00305 -
Indian Journal of Surgical Oncology Jun 2024Germ cell tumors encompass a broad spectrum of neoplasms arising from germ cell lineage, demonstrating varying histological profiles and clinical presentations. These...
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 ( < 0.00001) and tumors more than 10 cm ( .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.
PubMed: 38741622
DOI: 10.1007/s13193-024-01889-y -
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 -
Zhonghua Nan Ke Xue = National Journal... Jul 2023To investigate the clinical feature, pathological morphology, special histopathological subtype and immunohistochemical characteristic of gonadoblastoma. (Review)
Review
OBJECTIVE
To investigate the clinical feature, pathological morphology, special histopathological subtype and immunohistochemical characteristic of gonadoblastoma.
METHODS
Three patients of gonadoblastoma treated from 2014 to 2020 were enrolled, and the clinical characteristics, histological morphology and immunophenotype were analyzed, and the literatures were also reviewed.
RESULT
Three phenotypical females were 14,17 and 27 years old. Case 1 was 46,XX with normal gonadal development. Case 2 was 46,XY and case 3 was chromosomal chimeric type (46, XY 90%/45,X 10%), both with dysgenetic gonads. Microscopically, the morphology of classic type was observed in all cases more or less, manifesting small nests of primitive germ cells and surrounding clustered sex cord-like cells, usually with Call-Exner like bodies and calcification. In additon, the morphology of special subtype can be seen in case 1,exhibiting cord-like tumor cells, which was segmentated by cellular fibrous stroma. Cases 2 and 3 were accompanied by dysgerminoma components. Immunohistochemically,all the primal germ cells were positive for OCT3/4, PLAP and CDll7 , and sexcord-like cells were positive for inhibin, SF-1, SOX9 and FOXL2 . Patients were followed up for 10 years, 6 years and 4 years respectively without recurrence.
CONCLUSION
Gonadoblastoma is a rare germ cell-sex cord stromal tumor, which is usually accompanied by gonadal hypoplasia. As a special subtype, dissecting gonadoblastoma will be easily confused with dysgerminoma/seminoma, but the prognosis is better. So we should improve the understanding of this subtype and avoid overdiagnosis.
Topics: Adolescent; Adult; Female; Humans; Young Adult; Calcinosis; Dysgerminoma; Gonadoblastoma; Ovarian Neoplasms
PubMed: 38619412
DOI: No ID Found -
Clinical Oncology (Royal College of... Jun 2024To evaluate the component patterns and risk stratification in patients with mixed malignant ovarian germ cell tumors (mMOGCT).
AIMS
To evaluate the component patterns and risk stratification in patients with mixed malignant ovarian germ cell tumors (mMOGCT).
METHODS
A retrospective study of 70 mMOGCT patients treated in our hospital between 2000 and 2022 was conducted. The recurrence-free survival (RFS), disease-specific survival (DSS), and risk stratification systems based on scoring the identified prognostic factors were assessed.
RESULTS
Yolk sac tumor component was the most common type (80%), followed by dysgerminoma (50%), immature teratoma (40%), embryonic carcinoma (27.1%), and chorionic carcinoma (15.7%). The 5-year RFS and DSS rates were 77.9% and 87.9%, respectively. International federation of gynecology and obstetrics (FIGO) stage III-IV (RR 3.253, P = 0.029) and normalization of tumor marker (TM) ≤ 3 cycles of chemotherapy (RR 6.249, P = 0.017) were risk factors for RFS and DSS, respectively. Significant DSS (RR 8.268, P = 0.006) was also noted between patients who had normalized TM ≤ 4 and ≥5 cycles of chemotherapy. FIGO stages I-II and stages III-IV were scored as 0 and 2, respectively. AFP normalization ≤3, 4, and ≥5 cycles of chemotherapy were scored as 0, 1, and 4, respectively. A total score of 0, 1-2, and ≥3 stratified patients into low-risk (43 patients), intermediate-risk (13 patients), and high-risk groups (14 patients), respectively. Patients in three risk stratifications manifested significant differences in DSS (P = 0.010) but not in RFS (P > 0.05).
CONCLUSION
Distinct different component patterns existed among mMOGCT patients, and predicting survival outcomes in a universal model was challenging.
Topics: Humans; Female; Retrospective Studies; Ovarian Neoplasms; Neoplasms, Germ Cell and Embryonal; Adult; Young Adult; Adolescent; Middle Aged; Prognosis; Cohort Studies; Survival Rate
PubMed: 38555208
DOI: 10.1016/j.clon.2024.03.010