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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 -
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 -
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 -
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 -
Pediatric Endocrinology, Diabetes, and... 2017Turner syndrome (TS) is an inherited genetic disorder caused by numerical and/or structural chromosome X aberrations occurring at a frequency of 1:1200-1:2500 live-born... (Review)
Review
Turner syndrome (TS) is an inherited genetic disorder caused by numerical and/or structural chromosome X aberrations occurring at a frequency of 1:1200-1:2500 live-born girls. The most common karyotype is X chromosome monosomy (45,X) (approximately 50-60% of cases). Approximately 5-6% of patients may have abnormal Y chromosome or mosaicism characterized by the coexistence of 45,X cell line with cell line in which all or part of chromosome Y is present. In patients with TS who have all or fragmented genetic material from chromosome Y there is a substantial risk of cancerous lesions in these dysgenetic gonads. This paper stands for the review of the current knowledge on the genetic material of the Y chromosome in TS, especially in view of the risk of developing malignancies such as gonadoblastoma and dysgerminoma.
Topics: Chromosomes, Human, Y; Female; Gonadoblastoma; Humans; Mosaicism; Mutation; Ovarian Neoplasms; Turner Syndrome
PubMed: 29073306
DOI: 10.18544/PEDM-23.01.0072 -
Journal of Adolescent and Young Adult... Jun 2021The aim of this study is to evaluate the oncologic outcome in patients with pure ovarian dysgerminomas treated and followed-up in our hospital. This study included 18...
The aim of this study is to evaluate the oncologic outcome in patients with pure ovarian dysgerminomas treated and followed-up in our hospital. This study included 18 ovarian dysgerminoma patients with unilateral and/or bilateral salpingo-oophorectomy (BSO) ± hysterectomy+omentectomy+bilateral pelvic ± para-aortic lymphadenectomy+peritoneal cytologic sampling. Four (22%) patients underwent definitive surgery, including type I hysterectomy and BSO. Only one of the remaining 14 patients underwent BSO because of bilateral streak gonad presence during intraoperative examination. Thirteen patients (72%) had conservative surgeries. In addition, staging surgeries were performed to all patients except for one patient with 16 weeks of pregnancy (patient #3) in the study group. Retroperitoneal lymphadenectomy was part of the staging procedure except for this pregnant patient. Lymph node metastasis was positive in four (22%) patients. Three (16%) patients recurred and none of them died because of disease during follow-up period. Two of the relapsed patients were treated with combination of surgery and chemotherapy, whereas the third patient received only chemotherapy for treatment. Fertility sparing surgery should be the choice of treatment in patients with pure ovarian dysgerminoma. In addition, staging surgery, including retroperitoneal lymph node dissection is obligatory for determining stage IA patients who are exempt from adjuvant chemotherapy. Close surveillance policy enables early detection of patients with recurrences in whom salvage therapy is highly curable.
Topics: Chemotherapy, Adjuvant; Dysgerminoma; Female; Humans; Neoplasm Recurrence, Local; Neoplasm Staging; Ovarian Neoplasms; Tertiary Care Centers
PubMed: 32762565
DOI: 10.1089/jayao.2020.0087 -
Magnetic Resonance Imaging Clinics of... Feb 2023MR imaging is useful in the detection and characterization of adnexal lesions. This review discusses the clinical findings and MR imaging appearances of two types of... (Review)
Review
MR imaging is useful in the detection and characterization of adnexal lesions. This review discusses the clinical findings and MR imaging appearances of two types of ovarian neoplasms: germ cell and sex cord stromal tumors. The most common of these lesions, mature cystic teratomas, is characterized by the presence of bulk fat on MR imaging. Some of the other germ cell neoplasms and sex cord stromal tumors may have suggestive clinical, laboratory, or MR imaging features (eg, lipid and fibrosis) to establish a diagnosis. The ability to differentiate benign tumors from possible malignancy can aid in patient management.
Topics: Female; Humans; Magnetic Resonance Imaging; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms; Sex Cord-Gonadal Stromal Tumors
PubMed: 36368863
DOI: 10.1016/j.mric.2022.07.003 -
Translational Pediatrics Oct 2016The birth of a child with a disorder of sex development (DSD) prompts a long-term management strategy that involves a myriad of professionals working with the family.... (Review)
Review
The birth of a child with a disorder of sex development (DSD) prompts a long-term management strategy that involves a myriad of professionals working with the family. There has been progress in diagnosis, surgical techniques and in understanding psychosocial issues related to this condition. However, since these kinds of disorders are rare and have many anatomical variations, individual care is necessary, especially regarding surgical management. Gonadectomy is indicated in a number of intersex disorders with a Y chromosome to reduce the associated risk of cancer. Recently, laparoscopy has gained wide acceptance in pediatric urology. Laparoscopy is also reported to be a useful tool for diagnosing and treating DSD because of its minimal invasiveness and favorable cosmetic outcome. However, reports of evaluation and management using laparoscopy for large numbers of DSD patients are limited and debate is still open about indications and timing of gonadectomy. In this study, we reviewed the literature of the last 10 years about the role of laparoscopic gonadectomy in patients with DSD. In the analyzed papers, all the procedures were accomplished successfully using laparoscopy. No conversions to open surgery neither intra-operative complications were reported in all series. Post-operative complications were reported only in one series and included 1 umbilical port infection [2% (1/50)] and 1 pelvic abscess [2% (1/50)], both treated with antibiotic therapy (grade I Clavien-Dindo). Of the analyzed series, 7/10 reported postoperative diagnosis of gonadal tumors. The histopathologic examinations revealed 15 cases of gonadoblastoma, 7 cases of dysgerminoma and 2 cases of seminoma. Analyzing the single series, the incidence of these tumors varied between 10% and 33%. The results of our review confirmed the safety and efficacy of laparoscopic gonadectomy in DSD patients. In our mind, laparoscopic gonadectomy should be accepted as the treatment of choice in children and adolescents with these rare conditions. It thereby eliminates the risk of malignancies of gonadal origin with the advantages of a minimally invasive procedure, with lower morbidity, quicker postoperative recovery and excellent cosmetic results.
PubMed: 27867855
DOI: 10.21037/tp.2016.09.06 -
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 -
Translational Andrology and Urology Oct 2020Differences of sexual development (DSD) are known to be associated with an elevated risk of malignant and pre-malignant tumors. However, given the rarity of DSD and... (Review)
Review
Differences of sexual development (DSD) are known to be associated with an elevated risk of malignant and pre-malignant tumors. However, given the rarity of DSD and tumors in patients with DSD, more robust, large scale, prospective literature is required to truly determine the extent of this association, long-term outcomes and the nuances associated with the wide variety of DSD diagnoses. In addition, the spectrum of diagnoses and nomenclature has been ever-changing, limiting assessment of long-term patient outcomes. This review aims to provide an overview of the pathogenesis of DSD conditions, potential malignancies associated with the diagnoses, the available screening for malignancy, and the most recent data on stratification for each DSD diagnosis and association with malignancy.
PubMed: 33209714
DOI: 10.21037/tau-19-726