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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 -
Women's Health (London, England) 2023Swyer syndrome is a condition where individuals with a 46XY karyotype, typically associated with males, display complete gonadal dysgenesis and lack testicular...
Swyer syndrome is a condition where individuals with a 46XY karyotype, typically associated with males, display complete gonadal dysgenesis and lack testicular differentiation. This results from a mutation in the SRY gene, which is essential for testis development. As a consequence, affected individuals who appear phenotypically female have male chromosomes but do not develop functional testes. As a result, there is an absence of testosterone that leads to lack of masculinization and the presence of female genitalia. This article describes a 20-year-old female from Pakistan who exhibited primary amenorrhea. On examination, she possessed a typical female physique but lacked breast growth and axillary hair. She had scant pubic hair with female-type external genitalia. The pelvic imaging showed a underdeveloped uterus, along with small ovaries and fallopian tubes. Her karyotype came out to be 46XY. The examination and radiological results indicated Swyer syndrome. During laparoscopy, the patient's uterus was found to be infantile, while the fallopian tubes were healthy. Streak gonads were also present, and due to the risk of gonadoblastoma, they were surgically removed. Hormone replacement therapy was started to induce pubertal development and optimize bone mineral accumulation.
Topics: Male; Female; Humans; Young Adult; Adult; Amenorrhea; Pakistan; Gonadal Dysgenesis, 46,XY; Genotype; Ovarian Neoplasms
PubMed: 37994022
DOI: 10.1177/17455057231213270 -
Veterinarni Medicina Mar 2023The 16-year-old female leopard gecko () was presented with distended coelom and cachexia. Examination of the faecal sample ruled out the presence of protozoan...
The 16-year-old female leopard gecko () was presented with distended coelom and cachexia. Examination of the faecal sample ruled out the presence of protozoan parasites. A radiographic examination confirmed the presence of radiopaque foreign material in the intestine. The conservative treatment with tramadol, butylscopolamine, famotidine, vitamin B complex, and supportive fluid therapy with Hartmann solution and Duphalyte, was performed for 14 days. Ultrasonographic examination revealed the presence of a large mass adherent to the liver (with hypoechoic regions), a thin-walled cystic structure close to the liver, and coelomic effusion. Surgical exploration revealed a large mass on the right ovary. The unilateral (right) ovariectomy was performed. Histologic examination of the mass revealed dysgerminoma with an invasion of the ovarian bursa and blood vessels. Nine months after the surgery the patient was active and doing well. In reptiles, dysgerminoma is an uncommon type of neoplasia. To the best of our knowledge, this is the first case of dysgerminoma tumour diagnosed intravitally and treated successfully in lizards.
PubMed: 37981904
DOI: 10.17221/107/2022-VETMED -
International Journal of Surgery Case... Dec 2023Ovarian seminoma is a rare germ cell tumor that typically affects young women. Early diagnosis of malignant tumors, although difficult due to mild symptoms, is crucial...
INTRODUCTION
Ovarian seminoma is a rare germ cell tumor that typically affects young women. Early diagnosis of malignant tumors, although difficult due to mild symptoms, is crucial for a better prognosis. Here we report the case of a 15-year-old female patient with a large malignant ovarian dysgerminoma to provide a comprehensive overview of the diagnosis and management of this pathology and to help practitioners make an early diagnosis.
CASE PRESENTATION
A 15-year-old patient with no significant past medical history presented to the Obstetrics and Gynecology emergency D in Tunisia with subacute abdominal pain, fever, and unexplained weight loss. Diagnostic evaluation revealed a large, solid ovarian mass with elevated CA-125 levels, and the patient subsequently underwent right adnexectomy with peritoneal cytology. Histopathological analysis confirmed the diagnosis of dysgerminoma with peritoneal involvement, resulting in a FIGO IC and TNM T1C classification, and the patient received fertility-sparing polychemotherapy with satisfactory progression.
DISCUSSION
Ovarian seminoma mainly affects young women and can be associated with a variety of risk factors. Clinical signs are variable and can be difficult to detect at an early stage. Imaging techniques can help with diagnosis. Tumor markers may be elevated, but histological confirmation is needed. Treatment usually consists of a combination of surgery and chemotherapy, with good long-term survival rates.
CONCLUSION
Seminomas are rare tumors and early detection is crucial for a better prognosis. This requires close attention to risk factors and regular gynecological examinations from an early age in patients with these risk factors.
PubMed: 37976717
DOI: 10.1016/j.ijscr.2023.109028 -
Frontiers in Oncology 2023Malignant germ cell tumours are a group of rare cancers whose incidence peaks in late adolescence and early adulthood. Dysgerminomas of the ovary and seminomas of the...
Malignant germ cell tumours are a group of rare cancers whose incidence peaks in late adolescence and early adulthood. Dysgerminomas of the ovary and seminomas of the testis are analogous diseases, but seminomas have a 10-fold higher incidence. The two tumours are morphologically identical and are only differentiated by surrounding organ-specific tissue or testicular germ cell neoplasia . They share genetic features including and mutations, amplification of chromosome 12p, and expression of pluripotency markers (NANOG (Nanog homeobox), OCT3/4 (Octamer-binding transcription factor 3/4), and SAL4 (Spalt-like trascription factor 4)). Both histologies are exquisitely sensitive to platinum chemotherapy, and the combination of bleomycin, etoposide, and cisplatin (BEP) yields survival rates greater than 90%. However, BEP causes significant, lifelong toxicity (cardiovascular, renal, respiratory, and neurological) in these young patients with an expectation of cure. Here, we comprehensively review the biological features of dysgerminoma and seminoma to demonstrate that they are biologically analogous diseases. We present available clinical trial data supporting de-escalation of chemotherapy treatment. Finally, we propose that future trials should enrol men, women, and children to benefit all patients regardless of age or sex.
PubMed: 37954076
DOI: 10.3389/fonc.2023.1271647 -
Journal of Gynecologic Oncology Mar 2024To study clinical characters and outcomes in patients of malignant ovarian germ cell tumor (MOGCT) undergoing surgery following neoadjuvant chemotherapy (NACT).
OBJECTIVE
To study clinical characters and outcomes in patients of malignant ovarian germ cell tumor (MOGCT) undergoing surgery following neoadjuvant chemotherapy (NACT).
METHODS
Retrospective study of patients undergoing surgery following NACT for MOGCT at our institute. Platinum based chemotherapy was given in all patients in NACT.
RESULTS
Between March 2013 and February 2023, 30 patients had surgery after NACT. Patient's median age was 22 years (range, 12 to 35 years) and median follow up 42months (range, 6 to 132 months). Majority had endodermal sinus tumor (n=12), dysgerminoma (n=9) and mixed GCT (n=7). All had either International Federation of Gynecology and Obstetrics (FIGO) stage 3 (n=19) or FIGO stage 4 disease (n=11). Complete response to NACT seen in 5 patients and 23 patients had partial response. Fertility sparing surgery in 18 patients and complete surgery in 12 patients. Suboptimal surgery was seen in 4 patients. Currently, 20 of 30 patients are alive and disease free, 3 lost for follow up and 7 patients had progression after adjuvant therapy. Five patients had mortality-4 with progression and 1 with bleomycin toxicity. Fifteen of 17 eligible patients have resumed menstruation and one had successful pregnancy. Prognostic factors noted in study are stage, optimal surgery and viable tumor in histopathology. Dysgerminoma had better outcome than other histology.
CONCLUSION
NACT may be a reasonable option in patients with extensive unresectable disease or in whom fertility sparing is not possible or in the poor general condition. Fertility sparing surgery can be attempted post neoadjuvant chemotherapy without adversely affecting prognosis.
Topics: Pregnancy; Female; Humans; Young Adult; Adult; Neoadjuvant Therapy; Dysgerminoma; Retrospective Studies; Chemotherapy, Adjuvant; Neoplasm Staging; Ovarian Neoplasms; Neoplasms, Germ Cell and Embryonal
PubMed: 37921603
DOI: 10.3802/jgo.2024.35.e19 -
Asian Journal of Surgery Dec 2023
Topics: Female; Adolescent; Humans; Dysgerminoma; Ovarian Neoplasms
PubMed: 37657981
DOI: 10.1016/j.asjsur.2023.08.150 -
Gynecologic Oncology Reports Aug 2023Chylous ascites is an uncommon condition of accumulation of milky fluid rich in lymph and chylomicrons in the peritoneal cavity. Post-surgical complications following...
Chylous ascites is an uncommon condition of accumulation of milky fluid rich in lymph and chylomicrons in the peritoneal cavity. Post-surgical complications following dissection near the base of the mesentery, retroperitoneum, or near the cisterna chyli, malignancies (e.g., pancreatic adenocarcinomas, lymphoma, gastric carcinoma), cirrhosis, and trauma are the prime causes of chylous ascites. Here we report a rare case of chylous ascites following clearance of isolated paraaortic nodal recurrence in a 28-year-old female with dysgerminoma of ovary. The patient developed chylous ascites on the fifth day following surgery, which was confirmed by an increased drain fluid triglyceride level. She was managed conservatively with dietary modification including a high-protein and carbohydrate but low-fat-based diet mainly containing medium-chain fatty acids. Subsequently, she recovered from chylous ascites on the sixteenth day, completed second line chemotherapy, and is now doing well.
PubMed: 37576351
DOI: 10.1016/j.gore.2023.101221 -
Frontiers in Medicine 2023Prader-Willi syndrome (PWS) is a rare disease caused by a lack of expression of inherited imprinted genes in the paternally derived Prader-Willi critical region on...
Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation.
Prader-Willi syndrome (PWS) is a rare disease caused by a lack of expression of inherited imprinted genes in the paternally derived Prader-Willi critical region on chromosome 15q11.2-q13. It is characterized by poor feeding and hypotonia in infancy, intellectual disability, behavioral abnormalities, dysmorphic features, short stature, obesity, and hypogonadism. PWS is not a known cancer predisposition syndrome, but previous investigations regarding the prevalence of cancer in these patients suggest an increased risk of developing specific cancer types such as myeloid leukemia and testicular cancer. We present the results from a Swedish national population-based cohort study of 360 individuals with PWS and 18,000 matched comparisons. The overall frequency of cancer was not increased in our PWS cohort, but we found a high frequency of pediatric cancers. We also performed whole-genome sequencing of blood- and tumor-derived DNAs from a unilateral dysgerminoma in a 13-year-old girl with PWS who also developed bilateral ovarian sex cord tumors with annular tubules. In germline analysis, there were no additional findings apart from the 15q11.2-q13 deletion of the paternal allele, while a pathogenic activating mutation was identified in the tumor. Additionally, methylation-specific multiplex ligation-dependent probe amplification revealed reduced methylation at the PWS locus in the dysgerminoma but not in the blood. In conclusion, our register-based study suggests an increased risk of cancer at a young age, especially testicular and ovarian tumors. We found no evidence of a general increase in cancer risk in patients with PWS. However, given our limited observational time, further studies with longer follow-up times are needed to clarify the lifetime cancer risk in PWS. We have also described the second case of locus-specific loss-of-imprinting in a germ cell tumor in PWS, suggesting a possible mechanism of carcinogenesis.
PubMed: 37575996
DOI: 10.3389/fmed.2023.1172565