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Advances in Experimental Medicine and... 2015Neuron-specific enolase (NSE) is known to be a cell specific isoenzyme of the glycolytic enzyme enolase. In vertebrate organisms three isozymes of enolase, expressed by... (Review)
Review
Neuron-specific enolase (NSE) is known to be a cell specific isoenzyme of the glycolytic enzyme enolase. In vertebrate organisms three isozymes of enolase, expressed by different genes, are present: enolase α is ubiquitous; enolase β is muscle-specific and enolase γ is neuron-specific. The expression of NSE, which occurs as γγ- and αγ-dimer, is a late event in neural differentiation, thus making it a useful index of neural maturation.NSE is a highly specific marker for neurons and peripheral neuroendocrine cells. As a result of the findings of NSE in specific tissues under normal conditions, increased body fluids levels of NSE may occur with malignant proliferation and thus can be of value in diagnosis, staging and treatment of related neuroendocrine tumours (NETs).NSE is currently the most reliable tumour marker in diagnosis, prognosis and follow-up of small cell lung cancer (SCLC), even though increased levels of NSE have been reported also in non-small cell lung cancer (NSCLC). The level of NSE correlates with tumour burden, number of metastatic sites and response to treatment.NSE can be also useful at diagnosis of NETs and gastroenteropancreatic (GEP)-NETs.Raised serum levels of NSE have been found in all stages of neuroblastoma, although the incidence of increased concentration is greater in widespread and metastatic disease. Moreover, NSE determination in cord blood offers an early postnatal possibility of confirming the diagnosis of neuroblastoma in newborns.NSE has been demonstrated to provide quantitative measures of brain damage and/or to improve the diagnosis and the outcome evaluation in ischaemic stroke, intracerebral hemorrhage, seizures, comatose patients after cardiopulmonary resuscitation for cardiac arrest and traumatic brain injury.Increased NSE serum levels have also been found associated with melanoma, seminoma, renal cell carcinoma, Merkel cell tumour, carcinoid tumours, dysgerminomas and immature teratomas, malignant phaechromocytoma, Guillain-Barré syndrome and Creutzfeldt-Jakob disease.
Topics: Amino Acid Sequence; Biomarkers, Tumor; Body Fluids; Humans; Neoplasms; Phosphopyruvate Hydratase
PubMed: 26530364
DOI: 10.1007/978-94-017-7215-0_9 -
Seminars in Diagnostic Pathology Jan 2023Ovarian germ cell tumors are a diverse group of benign and malignant neoplasms that occur in a wide age range, but with a predilection for younger age group. The... (Review)
Review
Ovarian germ cell tumors are a diverse group of benign and malignant neoplasms that occur in a wide age range, but with a predilection for younger age group. The majority are represented by the frequently encountered mature cystic teratomas. Malignant germ cell tumors are uncommon, and in some cases have a characteristic clinical presentation. However, from a histologic standpoint these tumors can sometimes be challenging to diagnose due to overlapping morphology with epithelial, and in some cases sex cord tumors. In these cases, a panel of immunohistochemical stains often facilitates the correct diagnosis. This review article discusses the clinicopathologic findings and pertinent ancillary studies of both common and uncommon germ cell tumors of the ovary.
Topics: Female; Humans; Teratoma; Dysgerminoma; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms
PubMed: 36088223
DOI: 10.1053/j.semdp.2022.07.004 -
Surgical Pathology Clinics Jun 2019Ovarian germ cell tumors are a histologically diverse group of neoplasms with a common origin in the primitive germ cell. The vast majority are represented by mature... (Review)
Review
Ovarian germ cell tumors are a histologically diverse group of neoplasms with a common origin in the primitive germ cell. The vast majority are represented by mature cystic teratoma. In the minority are malignant germ cell tumors including immature teratoma, dysgerminoma, yolk sac tumor, embryonal cell carcinoma, and choriocarcinoma. This article reviews the histologic and immunohistochemical features of the most common ovarian germ cell tumors. The differential diagnoses for each are discussed.
Topics: Carcinoid Tumor; Diagnosis, Differential; Dysgerminoma; Endodermal Sinus Tumor; Female; Humans; Neoplasms, Germ Cell and Embryonal; Ovarian Neoplasms; Teratoma
PubMed: 31097117
DOI: 10.1016/j.path.2019.01.005 -
International Journal of Gynecological... Nov 2022
Topics: Female; Humans; Dysgerminoma; Ovarian Neoplasms; Neoplasm Recurrence, Local
PubMed: 36343973
DOI: 10.1136/ijgc-2022-003978 -
Abdominal Radiology (New York) May 2023Adnexal masses during pregnancy are a relatively uncommon entity. Their clinical management is challenging given the overlapping features of certain entities on imaging... (Review)
Review
Adnexal masses during pregnancy are a relatively uncommon entity. Their clinical management is challenging given the overlapping features of certain entities on imaging and histopathology, which can mimic malignancy, and the potential side effects to the mother and fetus, whether expectant management versus surgery is pursued. Ultrasonography with Doppler evaluation is the modality of choice for evaluating adnexal masses during pregnancy. Magnetic resonance imaging is the second-line modality useful when US findings are inconclusive/indeterminate. Most adnexal masses in pregnant patients are benign in origin (e.g., functional cysts, mature cystic teratoma, decidualization of endometrioma), but a few are malignant in origin (e.g., dysgerminoma, granulosa cell tumor). Most cases of adnexal masses are asymptomatic, but complications such as ovarian torsion can occur. This review aims to familiarize the radiologist with the imaging of adnexal lesions during pregnancy so that the radiologist can identify ovarian cancer. Specifically, the review will detail the most common benign and malignant adnexal masses in pregnancy, mimickers, and their corresponding imaging findings on US and MRI.
Topics: Pregnancy; Humans; Female; Ovarian Neoplasms; Adnexal Diseases; Magnetic Resonance Imaging; Granulosa Cell Tumor; Dermoid Cyst
PubMed: 36538079
DOI: 10.1007/s00261-022-03768-y -
Seminars in Diagnostic Pathology Jul 2019Approximately 5% of gynecological malignancies are associated with paraneoplastic hypercalcemia. Awareness of its association with certain tumor types allows for earlier... (Review)
Review
Approximately 5% of gynecological malignancies are associated with paraneoplastic hypercalcemia. Awareness of its association with certain tumor types allows for earlier disease detection and facilitates monitoring of treatment response and disease recurrence. We review the salient clinicopathological features, differential diagnosis and management issues in some of these gynecological tumors, namely: small cell carcinoma, hypercalcemic type; ovarian clear cell carcinoma, dysgerminoma and juvenile granulosa cell tumors.
Topics: Female; Genital Neoplasms, Female; Humans; Hypercalcemia; Paraneoplastic Syndromes
PubMed: 30772079
DOI: 10.1053/j.semdp.2019.01.003 -
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 -
Translational Andrology and Urology Oct 2016Disorders of sex development (DSD) represent a spectrum of conditions in which chromosomal, gonadal, or anatomic sex are atypical and affect 1 in 4,500-5,000 live... (Review)
Review
Disorders of sex development (DSD) represent a spectrum of conditions in which chromosomal, gonadal, or anatomic sex are atypical and affect 1 in 4,500-5,000 live births. The diagnosis of DSD raises concerns of tumor risk and treatment as well as future fertility preservation. We review the current understanding of the types of gonadal tumors that arise in DSD patients as well as possible markers and treatment. The goal is to inform the members of the DSD team (urologist, endocrinologist, geneticist, psychologist) of the latest findings regarding malignancy in DSD. PubMed and Google Scholar literature searches were performed of current and past peer-reviewed literature on DSD (intersex) regarding gonadal development and tumor formation/treatment. Relevant reviews and original research articles were examined, including cited references, and a synopsis of the data was generated. DSD patients are at increased risk for the development of testicular carcinoma in-situ (CIS) and germ cell tumors (GCT), including seminoma, non-seminoma, juvenile granulosa cell, gonadoblastoma, and dysgerminoma. Cancer risk factors include Y-chromosomal material and gonadal position, especially for streak gonads. The 46 XX DSD patients [congenital adrenal hyperplasia (CAH)] with no genetic Y-chromosomal material are not at higher risk of cancer. Post-pubertal complete androgen insensitivity syndrome (AIS) patients remain prone to tumor development if the testes remain in the abdomen. Estimates of the risk of GCT in partial AIS for untreated undescended testes may be as high as 50%. The cancer risk of scrotal testes in partial AIS is unknown. CIS occurs almost exclusively in patients with hypovirilization, most notably in AIS. Persistent Mullerian Duct Syndrome (PMDS) confers the usual cancer risk associated with cryptorchidism, but also a possible tumor risk of the Mullerian remnant. Several markers are under investigation for tumor evaluation in the DSD population beyond hCG and AFP (Oct3/4, TSPY, WT-1). The management of patients with DSD is complex and evaluation of tumor risk is aided by advances in genotyping for Y-chromosomal material not evident in traditional karyotyping. More complete genetic screening for DSD patients should increasingly become the standard of care. Developments in pathologic diagnosis will further challenge our traditional understanding of the oncologic management and surveillance of these patients. Future studies utilizing more advanced histologic examination of gonads will improve our understanding of the true incidences of malignancy in this diverse population.
PubMed: 27785439
DOI: 10.21037/tau.2016.08.09 -
Case Reports in Obstetrics and... 2023Persistent elevation in beta-human chorionic gonadotropin (-hCG) following a pregnancy is concerning for gestational trophoblastic neoplasia (GTN). However, the...
BACKGROUND
Persistent elevation in beta-human chorionic gonadotropin (-hCG) following a pregnancy is concerning for gestational trophoblastic neoplasia (GTN). However, the differential diagnosis should remain broad during the evaluation process.
CASE
A 34-year-old G3P3 presented with elevated -hCG four months after cesarean delivery with bilateral tubal ligation. The patient was treated with methotrexate for a presumed new ectopic pregnancy. Due to persistent -hCG elevation, she received actinomycin-D for GTN treatment. After completing chemotherapy, her -hCG increased. The patient underwent a laparoscopic hysterectomy with unplanned left oophorectomy due to its nodular appearance at the time of surgery. Pathology confirmed a dysgerminoma of the ovary and benign uterus.
CONCLUSION
Although dysgerminomas are uncommon, they should be considered when -hCG levels remain elevated despite therapies for more common pathologies.
PubMed: 36817070
DOI: 10.1155/2023/1901858 -
Cytopathology : Official Journal of the... Jul 2022Germ cell tumours infrequently metastasise to body cavities, where early detection on fluid samples is possible and can spearhead early treatment and survival.
BACKGROUND
Germ cell tumours infrequently metastasise to body cavities, where early detection on fluid samples is possible and can spearhead early treatment and survival.
MATERIALS AND METHODS
A total of seven cases of metastatic germ cell tumours were retrieved out of 7500 effusion samples received for cytopathological examination from 2015 to 2021. Detailed cytological features of metastatic germ cell tumours in effusion samples were studied, along with a correlation between clinical, radiological, and histopathological features.
RESULTS
A total of seven cases of metastatic germ cell tumours were analysed in effusion samples which included dysgerminoma (2), immature teratoma (2), yolk sac tumour (1), embryonal carcinoma (1), and mixed germ cell tumour (1). The smears showed predominantly discrete or loose clusters of cells. The cells with round nuclei and prominent nucleoli were helpful in detecting dysgerminoma and yolk sac tumours. Immature teratoma showed tiny groups of small cells and mature squamous cells. Serum tumour markers were raised in the majority of cases.
CONCLUSION
Metastatic germ cell tumours in effusion are uncommon, but detailed clinical history, including serum markers and characteristic cytological features, are helpful in their diagnosis.
Topics: Dysgerminoma; Female; Humans; Male; Neoplasms, Germ Cell and Embryonal; Neoplasms, Second Primary; Ovarian Neoplasms; Teratoma; Testicular Neoplasms
PubMed: 35347771
DOI: 10.1111/cyt.13122