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International Journal of Gynaecology... Mar 2024To evaluate oncologic (such as disease-free and overall survival) and obstetric outcomes in patients diagnosed with malignant ovarian germ cell tumors (MOGCTs).
OBJECTIVE
To evaluate oncologic (such as disease-free and overall survival) and obstetric outcomes in patients diagnosed with malignant ovarian germ cell tumors (MOGCTs).
METHODS
Patients diagnosed with MOGCTs between March 2007 and February 2022 were evaluated and patients who underwent fertility sparing surgery were included in this retrospective study. The obstetric and oncologic outcomes were evaluated by collecting data up until the patient's last follow-up visit from the hospital records and patient files. The study was approved by Başkent University Institutional Review Board (KA23/124).
RESULTS
Seventy FSS patients were included in this study. The median age of the patients was 22.5 years (range: 11-37). The median follow-up time was 92.0 months (10-189). Immature teratoma was the most common histological subtype (32.9%). Bilateral involvement was detected in only one patient with immature teratoma (1.4%). The 5-year DFS rates of immature teratoma, dysgerminoma, yolk sac, and mixed germ cell histologic types were 91.1%, 94.1%, 82.4%, and 88.9%, respectively (P: 0.716). The 5-year OS rates of the same histologic types were 95.7%, 100%, 88.2%, and 88.9%, respectively (P = 0.487). All patients (100%) had a regular menstrual cycle after the completion of adjuvant treatment. The mean time between the last chemotherapy and menstruation was 4.38 months. To date, a total of 34 patients tried to conceive after the completion of disease treatment. A total of 23 (67.6%) patients conceived, resulting in 27 live births in 22 (100%) patients.
CONCLUSION
Fertility preservation should be the first treatment option in MOGCTs in young patients due to the unilateral involvement of the disease and its chemosensitive nature.
Topics: Pregnancy; Female; Humans; Child; Adolescent; Young Adult; Adult; Retrospective Studies; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms; Teratoma; Fertility Preservation; Neoplasm Staging
PubMed: 37737565
DOI: 10.1002/ijgo.15141 -
International Journal of Gynecological... Nov 2023Primary extraovarian dysgerminoma (EOD) is a very rare disease. There is no literature about primary EOD involving the uterine cervix. We herein present details of a... (Review)
Review
Primary extraovarian dysgerminoma (EOD) is a very rare disease. There is no literature about primary EOD involving the uterine cervix. We herein present details of a unique case of primary EOD involving the uterine cervix. A 46-year-old woman with uterine cervical tumor was referred to our institution with atypical genital bleeding. A polypoid tumor localized to the uterine cervix was found. Cervical biopsy detected malignant components of likely nonepithelial cell origin. Preoperative imaging examinations showed a uterine cervical tumor measuring ~5 cm, suggestive of malignancy without distant or lymph node metastases. The patient underwent abdominal radical hysterectomy with pelvic lymph node dissection according to the standard treatment for stage IB3 cervical cancers. The pathological diagnosis was dysgerminoma involving the uterine cervix and the right fallopian tube. Immunohistochemical results were as follows: SALL4 (+), octamer-binding transcription factor 4 (+), D2-40 (+), and c-Kit (+). She received 3 cycles of adjuvant chemotherapy with bleomycin, etoposide, and cisplatin. The disease did not recur up to 14 months after surgery. This is the first-ever published case of primary EOD involving the uterine cervix among previously reported EOD cases. Reported cases of EOD in female genital tract are also reviewed. Our case provides more extensive insights for pathologists to consider the differential diagnosis of cervical lesions. In our case, combination therapy involving a surgical approach-according to cervical cancers and adjuvant chemotherapy as used for ovarian dysgerminomas-was effective. Future verification is needed regarding the best approach for treating uterine cervical dysgerminomas.
Topics: Female; Humans; Middle Aged; Uterine Cervical Neoplasms; Dysgerminoma; Neoplasm Recurrence, Local; Hysterectomy; Ovarian Neoplasms
PubMed: 37668336
DOI: 10.1097/PGP.0000000000000928 -
Asian Journal of Surgery Dec 2023
Topics: Female; Adolescent; Humans; Dysgerminoma; Ovarian Neoplasms
PubMed: 37657981
DOI: 10.1016/j.asjsur.2023.08.150 -
Journal of Pediatric Hematology/oncology Oct 2023Germ cell tumors (GCTs) are associated with pure gonadal dysgenesis or Swyer syndrome. Swyer syndrome usually presents with primary amenorrhea, streak ovaries, and mixed...
Germ cell tumors (GCTs) are associated with pure gonadal dysgenesis or Swyer syndrome. Swyer syndrome usually presents with primary amenorrhea, streak ovaries, and mixed GCT. However, our patient presented with secondary amenorrhea, normal female external genitalia, and a mixed GCT. Constitutional karyotype was suggestive of 46,XY. Management comprised chemotherapy, followed by surgery. Histopathology was suggestive of dysgerminoma complicating a gonadoblastoma. The purpose of reporting this case is its rarity and the importance of diagnosing an XY karyotype, as the incidence of GCTs is higher in these patients.
Topics: Humans; Female; Ovarian Neoplasms; Amenorrhea; Dysgerminoma; Gonadoblastoma; Gonadal Dysgenesis, 46,XY; Neoplasms, Germ Cell and Embryonal
PubMed: 37625143
DOI: 10.1097/MPH.0000000000002744 -
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 -
Theriogenology Oct 2023A retrospective study was carried out to investigate incidence, clinical signs and ultrasonographic findings of ovarian tumours in a population of dogs referred to the...
A retrospective study was carried out to investigate incidence, clinical signs and ultrasonographic findings of ovarian tumours in a population of dogs referred to the Veterinary Teaching Hospital of the University of Perugia (Italy) and Anicura Tyrus Veterinary Clinic (Terni, Italy). The period of study ranged from January 2005 to December 2021. A total of 1910 dogs were affected by neoplasia but only 35 of them (1.8%), of different breeds and ages, were found to have ovarian tumours. Ultrasound of the ovaries was performed based on clinical signs; the diagnosis was achieved after ultrasound findings prompted ovariohysterectomy and ovarian pathologic evaluation In our study, the age of bitches affected by ovarian neoplasia ranged from 3 to 20 years (mean 9.6 ± 3.8). The histopathological findings of ovarian masses identified 16 granulosa cell tumours (GCT) (46%), 7 adenomas (20%), 5 adenocarcinomas (14%), 2 teratomas (6%), 1 leiomyoma (3%), 1 luteoma (3%), 1 tecoma (3%), 1 dysgerminoma (3%), and 1 haemangiosarcoma (3%). In particular, with respect to clinical signs, 69% of bitches showed abnormalities of estrus cycle (short interestral interval, persistent estrus, prolonged interestral interval). The other main clinical signs included abdominal distention, palpable abdominal mass, vulvovaginal discharge, polyuria/polydipsia, mammary masses. When present, the laboratory abnormalities were slight anemia and leucocytosis with neutrophilia. The tumours were ultrasonographically classified as mainly solid: 12/35 (34%) (1 adenoma, 4 adenocarcinomas, 1 dysgerminoma, 1 haemangiosarcoma, 1 leyomioma, 1 luteoma, 1 GCT, 1 tecoma, 1 teratoma); solid with cystic component 13/35 (37%) (9 GCT, 2 Adenomas, 1 adenocarcinoma, 1 teratoma); and mainly cystic 10/35 (29%) (6 GCTs, 4 adenomas). In our study, the ultrasound examination allowed us to suspect ovarian neoplasia in asymptomatic subjects referred for breeding management or for preventive health check. On the basis of our data, we proposed to perform a complete periodic examination of the reproductive system once a year from 6 years. Nevertheless, the presence of ovarian neoplasms found in young subjects, during breeding management, suggest including routine ultrasound examination of the reproductive tract.
Topics: Female; Animals; Dogs; Dysgerminoma; Retrospective Studies; Luteoma; Hemangiosarcoma; Hospitals, Animal; Hospitals, Teaching; Ovarian Neoplasms; Granulosa Cell Tumor; Adenocarcinoma; Teratoma; Adenoma
PubMed: 37540955
DOI: 10.1016/j.theriogenology.2023.07.020 -
Children (Basel, Switzerland) Jun 2023Most abdominal masses in the pediatric population derive from the ovaries. Ovarian masses can occur in all ages, although their incidence, clinical presentation and... (Review)
Review
Most abdominal masses in the pediatric population derive from the ovaries. Ovarian masses can occur in all ages, although their incidence, clinical presentation and histological distribution vary among different age groups. Children and adolescents may develop non-neoplastic ovarian lesions, such as functional cysts, endometrioma, torsion, abscess and lymphangioma as well as neoplasms, which are divided into germ cell, epithelial, sex-cord stromal and miscellaneous tumors. Germ cell tumors account for the majority of ovarian neoplasms in the pediatric population, while adults most frequently present with epithelial tumors. Mature teratoma is the most common ovarian neoplasm in children and adolescents, whereas dysgerminoma constitutes the most frequent ovarian malignancy. Clinical manifestations generally include abdominal pain, palpable mass, nausea/vomiting and endocrine alterations, such as menstrual abnormalities, precocious puberty and virilization. During the investigation of pediatric ovarian masses, the most important objective is to evaluate the likelihood of malignancy since the management of benign and malignant lesions is fundamentally different. The presence of solid components, large size and heterogenous appearance on transabdominal ultrasonography, magnetic resonance imaging and computed tomography indicate an increased risk of malignancy. Useful tumor markers that raise concern for ovarian cancer in children and adolescents include alpha-fetoprotein, lactate dehydrogenase, beta subunit of human chorionic gonadotropin, cancer antigen 125 and inhibin. However, their serum levels can neither confirm nor exclude malignancy. Management of pediatric ovarian masses needs to be curative and, when feasible, function-preserving and minimally invasive. Children and adolescents with an ovarian mass should be treated in specialized centers to avoid unnecessary oophorectomies and ensure the best possible outcome.
PubMed: 37508611
DOI: 10.3390/children10071114 -
Radiology Case Reports Sep 2023Swyer syndrome-a rare syndrome associated with complete gonadal dysgenesis-is seen in phenotypically female patients with 46-XY karyotype. They usually present with...
Swyer syndrome-a rare syndrome associated with complete gonadal dysgenesis-is seen in phenotypically female patients with 46-XY karyotype. They usually present with primary amenorrhea or delayed puberty. The dysgenetic gonad, which is nonfunctional, is prone to undergo malignant transformation such as dysgerminoma, gonadoblastoma, etc. Timely diagnosis helps in deciding appropriate management strategies for the patient such as hormone replacement therapy and gonadectomy. Thirty-year-old patient with a female external phenotype presented to us with complaints of primary amenorrhea. There was no similar family history of infertility, amenorrhea, abnormal external genitalia development, or cryptorchidism. On physical examination, the breast development of the patient was within normal limits for her age (Tanner stage 5), however; the axillary and pubic hair were underdeveloped (Tanner stage 2). Pelvic and inguinal ultrasound of the patient showed a hypoplastic uterus along with a cystic structure in left pelvis with no evidence of any testes like structure in inguinal region, pelvis, or abdomen. The patient was further evaluated with MRI of pelvis which confirmed the ultrasound findings of a hypoplastic uterus along with a dysplastic cystic left gonad with no evidence of any ovary or ovary-like structure/testes/testes-like structure in abdomen. Possibility of complete gonadal dysgenesis was given which was further confirmed by the hormonal assay that showed hypergonadotropic-hypogonadism with raised serum follicular stimulating hormone (FSH) and serum luteinizing hormone (LH) levels and a low estradiol, low testosterone, and low anti-Mullerian hormone (AMH) levels. Serum prolactin (PRL), serum thyroid stimulating hormone (TSH), and serum beta human chorionic gonadotropin (beta hCG) levels were within normal range. The cytogenetic report of the patient showed a 46-XY karyotype confirming our diagnosis. The patient was advised to undergo prophylactic gonadectomy for the left gonad. Swyer syndrome is a rare disorder of sexual development which needs vigorous clinical, laboratory, and radiological evaluation. Ultrasound is the primary investigation of choice whereas MRI is used as a problem-solving tool in localizing the streak gonads. Early diagnosis is crucial in these patients since prophylactic gonadectomy reduces the risk of developing germ cell tumor.
PubMed: 37497464
DOI: 10.1016/j.radcr.2023.06.061 -
International Journal of Environmental... Jun 2023Nonepithelial ovarian cancers (NEOC) are a group of rare malignancies, including germ cell tumours (GCT) and sex cord-stromal tumours (SCST), along with small-cell... (Review)
Review
Nonepithelial ovarian cancers (NEOC) are a group of rare malignancies, including germ cell tumours (GCT) and sex cord-stromal tumours (SCST), along with small-cell carcinomas and sarcomas. GCTs represent 2-5% of ovarian cancers, with a yearly incidence of 4:100,000, and they usually affect young women and adolescents. Precursory germ cells of the ovary form the basis of GCT. They are histologically classified into primitive GCT, teratomas, and monodermal and somatic-type tumours associated with dermoid cysts. A primitive GCT can be either a yolk sac tumour (YST), dysgerminoma, or mixed germ cell neoplasm. Teratomas are either mature (benign) or immature (malignant). Given that malignant GCTs occur rarely compared to epithelial ovarian tumours (EOC), greater focus is required in their diagnosis and treatment. In this article, we review the epidemiology, clinical manifestations, diagnosis, and molecular biology, along with the management and therapeutic challenges.
Topics: Adolescent; Humans; Female; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms; Teratoma
PubMed: 37372675
DOI: 10.3390/ijerph20126089