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Translational Pediatrics May 2021This article reviews the contemporary diagnosis and management of the most common abdominal neoplasms and cystic lesions diagnosed in the fetus. Fetal tumors discussed... (Review)
Review
This article reviews the contemporary diagnosis and management of the most common abdominal neoplasms and cystic lesions diagnosed in the fetus. Fetal tumors discussed include teratomas (sacrococcygeal, cervical or mediastinal), mesoblastic nephroma, nephroblastoma (Wilms' tumor), neuroblastoma, and hepatoblastoma. Fetal abdominal cystic lesions discussed include ovarian cyst, choledochal cyst, intestinal duplication cyst, mesenteric cyst, simple hepatic cyst, and meconium pseudocyst. We discuss the rare indications for fetal intervention or fetal surgery and other perinatal management, including prenatal interventions and fetal surgery for sacrococcygeal teratoma. The lesions reviewed are detected by widespread use of screening ultrasonography during pregnancy. Work-up for these abnormalities may include fetal MRI which enhances the diagnostic accuracy of abdominal tumors and cystic lesions and can aid in characterization of the lesion in relationship to surrounding anatomic structures. Accurate prenatal diagnosis of such lesions permits recommendations for optimal location and timing of delivery, and inclusion of appropriate caregivers and expertise to facilitate postnatal management. Perinatal management of the fetus with a neoplasm requires consideration of the optimal timing and mode of delivery, and pediatric oncology and surgical specialty care. The majority of tumors diagnosed antenatally have good prognosis with current multimodality treatment.
PubMed: 34189111
DOI: 10.21037/tp-20-440 -
International Journal of Molecular... Mar 2023Ovarian dermoid cysts, also called mature cystic teratomas (MCTs), account for 69% of ovarian germ cell tumors in young women. The tumors are formed by tissues derived... (Review)
Review
Ovarian dermoid cysts, also called mature cystic teratomas (MCTs), account for 69% of ovarian germ cell tumors in young women. The tumors are formed by tissues derived from three germ layers, and sebaceous materials are most commonly seen. The origin of MCTs is widely considered to be the germ cell origin, which completes meiosis I. The clinical symptoms vary widely, but 20% of tumors could be asymptomatic. The diagnosis of MCTs is usually made without difficulty by ultrasound and confirmed by histopathology post-operatively. The imaging findings have a high diagnostic value. The typical characteristics present in the sonographic images, including a dermoid plug or Rokitansky nodule, are considered strong evidence for a teratoma. Although the malignant transformation of MCTs is rare, it can occur in some cases, especially in women of advanced age. The treatment of MCTs depends on the risk of malignancy, the age of the patient, and the patient's fertility reserve requirement. In this article, we review the epidemiology, clinical symptoms, diagnosis criteria, cellular origin, and treatment of mature cystic teratomas.
Topics: Humans; Female; Teratoma; Ovarian Neoplasms; Meiosis; Cell Transformation, Neoplastic
PubMed: 37047114
DOI: 10.3390/ijms24076141 -
Ultrasound in Obstetrics & Gynecology :... Oct 2022To describe the clinical and ultrasound features of ovarian mature cystic teratomas (MCTs). (Review)
Review
OBJECTIVE
To describe the clinical and ultrasound features of ovarian mature cystic teratomas (MCTs).
METHODS
This was a retrospective study. From the International Ovarian Tumor Analysis (IOTA) database, we identified patients with a histologically confirmed diagnosis of MCT who had undergone transvaginal ultrasound examination between 1999 and 2016 (IOTA phases 1, 2, 3 and 5) in one of five centers. Ultrasound was performed by an experienced examiner who used the standardized IOTA examination technique and terminology. In addition to extracting data from the IOTA database, available two-dimensional grayscale and color or power Doppler images were reviewed retrospectively to identify typical ultrasound features of MCT described previously and detect possible new features using pattern recognition. All images were reviewed by two independent examiners and further discussed with two ultrasound experts to reach consensus.
RESULTS
Included in the study were 454 patients with histologically confirmed MCT. Median age was 33 (range, 8-90) years and 66 (14.5%) patients were postmenopausal. Most MCTs were described by the original ultrasound examiner as unilocular (262/454 (57.7%)) or multilocular (70/454 (15.4%)) cysts with mixed echogenicity of cystic fluid (368/454 (81.1%)), acoustic shadowing (328/454 (72.2%)) and no or little vascularization on color Doppler (color score 1, 240/454 (52.9%); color score 2, 123/454 (27.1%)). The median largest lesion diameter was 66 (range, 15-310) mm. A correct preoperative diagnosis of MCT was suggested by the original ultrasound examiner in 372/454 (81.9%) cases. On retrospective review of ultrasound images of 334 MCTs that had quality sufficient for assessment, 'dots and/or lines' and/or 'echogenic white ball' (typical features according to the literature) were present in 271/334 (81.1%) masses. We identified four new ultrasound features characteristic of MCT: 'cotton wool tufts', 'mushroom cap sign', 'completely hyperechogenic lesion' and 'starry sky sign'. At least one classical or novel ultrasound feature was present in 315/334 (94.3%) MCTs. Twenty-nine (8.7%) MCTs manifested vascularized solid tissue, of which seven exhibited no typical features.
CONCLUSION
We provide a comprehensive overview of conventional and newly described ultrasound features of MCTs. Only a small proportion of MCTs did not manifest any of the typical features. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Adult; Female; Genital Diseases, Female; Humans; Ovarian Neoplasms; Pregnancy; Retrospective Studies; Teratoma; Ultrasonography; Ultrasonography, Doppler, Color
PubMed: 35316568
DOI: 10.1002/uog.24904 -
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 -
Medical Hypotheses Sep 2017Spontaneous parthenogenetic and androgenetic events occur in humans, but they result in tumours: the ovarian teratoma and the hydatidiform mole, respectively. However,...
Spontaneous parthenogenetic and androgenetic events occur in humans, but they result in tumours: the ovarian teratoma and the hydatidiform mole, respectively. However, the observation of fetiform (ovarian) teratomas, the serependious identification of several chimeric human parthenotes and androgenotes in the last two decades, along with the creation of viable bi-maternal mice in the laboratory based on minor genetic interferences, raises the question of whether natural cases of clinically healthy human parthenotes have gone unnoticed to science. Here we present a hypothesis based on three elements to support the existence of such elusive individuals: mutations affecting (i) genomic imprinting, (ii) meiosis and (iii) oocyte activation. Additionally, we suggest that the routine practice of whole genome sequencing on every single newborn worldwide will be the ultimate test to this controversial, yet astonishing hypothesis. Finally, several medical implications of such intriguing event are presented.
Topics: Animals; Chimera; Diploidy; Female; Genomic Imprinting; Heterozygote; Humans; Meiosis; Mice; Models, Genetic; Mutation; Oocytes; Ovarian Neoplasms; Parthenogenesis; Teratoma; Whole Genome Sequencing
PubMed: 28818272
DOI: 10.1016/j.mehy.2017.07.008 -
International Journal of Gynecological... Feb 2023
Topics: Humans; Female; Teratoma; Ovarian Neoplasms; Syndrome; Neoplasms, Germ Cell and Embryonal
PubMed: 36746506
DOI: 10.1136/ijgc-2022-004265 -
Journal of Cancer Research and... 2022Ovarian squamous cell carcinoma is a rare and aggressive ovarian neoplasm, where most of the cases arise from mature teratoma, which represents up to 20% of all ovarian...
Ovarian squamous cell carcinoma is a rare and aggressive ovarian neoplasm, where most of the cases arise from mature teratoma, which represents up to 20% of all ovarian tumors. Moreover, primary squamous cell carcinoma is considered to be related to human papillomavirus infection. The diagnosis is difficult and metastasis from bladder, genital tract, lung, and digestive tract cancers must be ruled out. There are no guidelines for treatment, however, radical surgery combined with adjuvant chemotherapy and radiation therapy, are the most common approach. We present the case of a young women diagnosed with a de novo ovarian squamous cell carcinoma, as well as the treatment and follow-up that she received.
Topics: Carcinoma, Ovarian Epithelial; Carcinoma, Squamous Cell; Chemotherapy, Adjuvant; Female; Humans; Ovarian Neoplasms; Teratoma
PubMed: 35900555
DOI: 10.4103/jcrt.JCRT_562_20 -
Brain : a Journal of Neurology Aug 2022Autoantibodies against the extracellular domain of the N-methyl-d-aspartate receptor (NMDAR) NR1 subunit cause a severe and common form of encephalitis. To better...
Autoantibodies against the extracellular domain of the N-methyl-d-aspartate receptor (NMDAR) NR1 subunit cause a severe and common form of encephalitis. To better understand their generation, we aimed to characterize and identify human germinal centres actively participating in NMDAR-specific autoimmunization by sampling patient blood, CSF, ovarian teratoma tissue and, directly from the putative site of human CNS lymphatic drainage, cervical lymph nodes. From serum, both NR1-IgA and NR1-IgM were detected more frequently in NMDAR-antibody encephalitis patients versus controls (both P < 0.0001). Within patients, ovarian teratoma status was associated with a higher frequency of NR1-IgA positivity in serum (OR = 3.1; P < 0.0001) and CSF (OR = 3.8, P = 0.047), particularly early in disease and before ovarian teratoma resection. Consistent with this immunoglobulin class bias, ovarian teratoma samples showed intratumoral production of both NR1-IgG and NR1-IgA and, by single cell RNA sequencing, contained expanded highly-mutated IgA clones with an ovarian teratoma-restricted B cell population. Multiplex histology suggested tertiary lymphoid architectures in ovarian teratomas with dense B cell foci expressing the germinal centre marker BCL6, CD21+ follicular dendritic cells, and the NR1 subunit, alongside lymphatic vessels and high endothelial vasculature. Cultured teratoma explants and dissociated intratumoral B cells secreted NR1-IgGs in culture. Hence, ovarian teratomas showed structural and functional evidence of NR1-specific germinal centres. On exploring classical secondary lymphoid organs, B cells cultured from cervical lymph nodes of patients with NMDAR-antibody encephalitis produced NR1-IgG in 3/7 cultures, from patients with the highest serum NR1-IgG levels (P < 0.05). By contrast, NR1-IgG secretion was observed neither from cervical lymph nodes in disease controls nor in patients with adequately resected ovarian teratomas. Our multimodal evaluations provide convergent anatomical and functional evidence of NMDAR-autoantibody production from active germinal centres within both intratumoral tertiary lymphoid structures and traditional secondary lymphoid organs, the cervical lymph nodes. Furthermore, we develop a cervical lymph node sampling protocol that can be used to directly explore immune activity in health and disease at this emerging neuroimmune interface.
Topics: Anti-N-Methyl-D-Aspartate Receptor Encephalitis; Autoantibodies; Female; Germinal Center; Humans; Immunoglobulin A; Immunoglobulin G; Lymphatic Vessels; Ovarian Neoplasms; Receptors, N-Methyl-D-Aspartate; Teratoma
PubMed: 35680425
DOI: 10.1093/brain/awac088 -
International Journal of Molecular... Oct 2021Ovarian teratomas are by far the most common ovarian germ cell tumor. Most teratomas are benign unless a somatic transformation occurs. The designation of teratoma... (Review)
Review
Ovarian teratomas are by far the most common ovarian germ cell tumor. Most teratomas are benign unless a somatic transformation occurs. The designation of teratoma refers to a neoplasm that differentiates toward somatic-type cell populations. Recent research shows a striking association between ovarian teratomas and anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis, a rare and understudied paraneoplastic neurological syndrome (PNS). Among teratomas, mature teratomas are thought to have a greater relevance with those neurological impairments. PNS is described as a neurologic deficit triggered by an underlying remote tumor, whereas anti-NMDAR encephalitis is characterized by a complex neuropsychiatric syndrome and the presence of autoantibodies in cerebral spinal fluid against the GluN1 subunit of the NMDAR. This review aims to summarize recent reports on the association between anti-NMDAR encephalitis and ovarian teratoma. In particular, the molecular pathway of pathogenesis and the updated mechanism and disease models would be discussed. We hope to provide an in-depth review of this issue and, therefore, to better understand its epidemiology, diagnostic approach, and treatment strategies.
Topics: Animals; Anti-N-Methyl-D-Aspartate Receptor Encephalitis; Autoantibodies; Disease Models, Animal; Female; Humans; Ovarian Neoplasms; Signal Transduction; Teratoma
PubMed: 34681570
DOI: 10.3390/ijms222010911