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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 -
Gynecologic Oncology Reports Jun 2023While Non-Hodgkin Lymphoma (NHL) often involves the ovaries at time of autopsy, it is rarely present at the time of diagnosis. Here we present a case of a 20-year-old...
While Non-Hodgkin Lymphoma (NHL) often involves the ovaries at time of autopsy, it is rarely present at the time of diagnosis. Here we present a case of a 20-year-old who presented with a large adnexal mass and elevated B-HCG, CA-125, and LDH. The patient underwent exploratory laparotomy, and frozen section of the left ovarian mass was suspected to be a dysgerminoma. Final pathologic diagnosis was Ann Arbor stage IVE Diffuse Large B-Cell Lymphoma, germinal center subtype. Patient is currently undergoing chemotherapy and has received the 3 of a planned 6 cycles of R-CHOP.
PubMed: 37293350
DOI: 10.1016/j.gore.2023.101212 -
Cureus Apr 2023The 46,XY disorder of sexual development (DSD) is a rare congenital condition characterized by a 46,XY karyotype associated with complete or disturbed female gonadal...
The 46,XY disorder of sexual development (DSD) is a rare congenital condition characterized by a 46,XY karyotype associated with complete or disturbed female gonadal development and a non-virilized phenotype. The presence of Y chromosome material in these patients' karyotypes increases the risk of germ cell tumor development. The present study reports a unique case of a 16-year-old phenotypically female patient presenting with primary amenorrhea, who was later diagnosed with 46,XY DSD. After bilateral salpingo-oophorectomy, the patient was diagnosed with stage IIIC dysgerminoma. The patient received four cycles of chemotherapy and showed a good response. The patient is currently alive and well, with no evidence of disease after the residual lymph node resection.
PubMed: 37252506
DOI: 10.7759/cureus.38149 -
Journal of the ASEAN Federation of... 2023Complete gonadal dysgenesis with 46,XY karyotype is a clinical condition characterized by the absence of testicular tissue but with the presence of typical Müllerian...
Complete gonadal dysgenesis with 46,XY karyotype is a clinical condition characterized by the absence of testicular tissue but with the presence of typical Müllerian structures in a phenotypically female individual. The condition presents as primary amenorrhoea or delayed puberty. Eventually, malignant neoplasms may arise. We report a case of a 16-year-old Indian male with Swyer syndrome presenting with primary amenorrhoea and with an earlier diagnosis of a malignant dysgerminoma in the right ovary.
Topics: Male; Female; Humans; Adolescent; Dysgerminoma; Ovarian Neoplasms; Amenorrhea; Gonadal Dysgenesis, 46,XY
PubMed: 37252405
DOI: 10.15605/jafes.038.01.15 -
European Journal of Obstetrics,... Jul 2023Rare tumour management is challenging for clinicians as evidence bases are limited and clinical trials are difficult to conduct. It is even more difficult for patients...
OBJECTIVE
Rare tumour management is challenging for clinicians as evidence bases are limited and clinical trials are difficult to conduct. It is even more difficult for patients where self-reliance alone is insufficient to overcome the challenges of navigating care which is often poorly evidence based. In Ireland, a national Gestational Trophoblastic Disease (GTD) service was established as one of 3 initiatives for rare tumours by the National Cancer Control Programme. The service has a national clinical lead, a dedicated supportive nursing service and a clinical biochemistry liaison team. This study sought to assess the impact of a GTD centre using national clinical guidelines and integrating and networking with European and International GTD groups on the clinical management of challenging GTD cases and to consider the application of this model of care to other rare tumour management.
STUDY DESIGN
In this article, we analyse the impact of a national GTD service on five challenging cases, and review how the service affects patient management in this rare tumour type. These cases were selected from a cohort of patients who were voluntarily registered in the service based on the diagnostic management dilemma they posed.
RESULTS
Case management was impacted by the identification of GTD mimics, the provision of lifesaving treatment of metastatic choriocarcinoma with brain metastasis, networking with international colleagues, the identification of early relapse, the use of genetics to differentiate treatment pathways and prognosis, and supportive supervision of treatment courses of up to 2 years of therapy in a cohort of patients starting or completing families.
CONCLUSION
The National GTD service could be an exemplar for the management of rare tumours (such as cholangiocarcinoma) in our jurisdiction which could benefit from a similar constellation of supports. Our study demonstrates the importance of a nominated national clinical lead, dedicated nurse navigator support, registration of cases and networking. The impact of our service would be greater if registration was mandatory rather than voluntary. Such a measure would also ensure equity of access for patients to the service, assist in quantifying the need for resourcing and facilitate research to improve outcomes.
Topics: Pregnancy; Female; Humans; Gestational Trophoblastic Disease; Prognosis; Ireland; Neoplasms, Second Primary; Uterine Neoplasms
PubMed: 37224702
DOI: 10.1016/j.ejogrb.2023.05.016 -
Diagnostics (Basel, Switzerland) Apr 2023An immature teratoma is a germinal malignant tumor composed of three germ cell layers, occurring more frequently in young women. It is the second most frequent among the... (Review)
Review
An immature teratoma is a germinal malignant tumor composed of three germ cell layers, occurring more frequently in young women. It is the second most frequent among the malignant germinal tumors after dysgerminoma, and it is the only neoplasm with germ cells that are histologically graded. Even if we do not have a consensus regarding its therapeutical management, it has a good prognosis, with an excellent overall survival rate and good fertility preservation. More studies are needed regarding the necessity of adjuvant chemotherapy in pediatric oncology, and because of chemotherapy's long-term adverse effects, surveillance or a targeted treatment is preferred, but the main therapy is fertility-sparing surgery. Special attention should be given to the genetic mapping of the histological pieces for patient risk stratification due to its value in prognosis and future treatment.
PubMed: 37174909
DOI: 10.3390/diagnostics13091516 -
The Turkish Journal of Pediatrics 2023Primary ovarian tumors are rare in the pediatric age group. We reviewed our 40-year experience with ovarian tumors to evalute the clinical features and treatment results...
BACKGROUND
Primary ovarian tumors are rare in the pediatric age group. We reviewed our 40-year experience with ovarian tumors to evalute the clinical features and treatment results in a single institution.
METHODS
Between January 1975 and October 2015, 124 girls with primary ovarian tumor were diagnosed and treated in our center. Tumors were identified with biopsy or total resection and/or serum markers. Seventy four children were included in the treatment analysis.
RESULTS
Median age for 124 children was 11.0 years (0.73-17.63). The main complaint was abdominal pain in 85 patients (68.5%). One hundred and five patients (84.6%) had total one-sided salpingo-oophorectomy and five patients had bilateral salpingo-oophorectomy. Amongst 124 cases, 29 patients had mature teratoma, which was the most common tumor in this study. Dysgerminoma (n=21) was the most common malignant histopathologic type. Stage I disease was diagnosed in 57.2% and stage IV in 6.6% of the patients. Five year overall survival (OS) and event-free survival (EFS) for 124 children were 82.5% and 76.3% respectively. For 74 children who received treatment, 5-year OS and EFS were 75.2% and 67.1%, respectively. Age (p < 0.017), histopathological subgroup (p < 0.001), stage (p =0.003) and chemotherapy protocols (p =0.049) were significant prognostic factors for OS.
CONCLUSIONS
The survival rates in children with ovarian tumors were comparable with studies in the literature. Although patients treated with platin based regimens had better survival rates, prognosis was still poor for the patients in advanced stages. This should be the focus for further studies and improvements.
Topics: Child; Female; Humans; Antineoplastic Combined Chemotherapy Protocols; Neoplasm Staging; Ovarian Neoplasms; Prognosis; Retrospective Studies; Treatment Outcome
PubMed: 37114690
DOI: 10.24953/turkjped.2022.659 -
Diagnostic and Interventional Radiology... Jan 2023Ovarian dysgerminoma (OD) 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...
Ovarian dysgerminoma (OD) 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. While the definitive diagnosis of OD is only possible histologically, certain radiological features can provide facilitating clues. A large, unilateral, solid, lobulated ovarian tumor with markedly enhancing septa should raise the suspicion of OD in young women. Serum lactate dehydrogenase is characteristically elevated in this tumor type and can complement its diagnosis and postoperative follow-up; however, it is a nonspecific marker. Moreover, knowing the mimickers of OD is essential to optimizing the radiological image interpretation and allowing for adequate management and timely treatment. Therefore, in this article, the radiological and clinical-pathologic features of ODs were reviewed to allow radiologists to become familiarized with them and narrow the diagnostic possibilities when facing this type of tumor.
Topics: Female; Humans; Dysgerminoma; Ovarian Neoplasms; Neoplasms, Germ Cell and Embryonal; Radiography
PubMed: 36959710
DOI: 10.5152/dir.2022.21317