Low-Grade Glioma within Mature Cystic Teratoma in a Patient with Anti-N-Methyl-D-Aspartate Receptor Encephalitis: A Case Report
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PROVIDER: S-EPMC10917429 | biostudies-literature | 2024 Jan
REPOSITORIES: biostudies-literature
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Project description:ObjectiveTo report the autoantigens of a new category of treatment-responsive paraneoplastic encephalitis.MethodsAnalysis of clinical features, neuropathological findings, tumors, and serum/cerebrospinal fluid antibodies using rat tissue, neuronal cultures, and HEK293 cells expressing subunits of the N-methyl-D-aspartate receptor (NMDAR).ResultsTwelve women (14-44 years) developed prominent psychiatric symptoms, amnesia, seizures, frequent dyskinesias, autonomic dysfunction, and decreased level of consciousness often requiring ventilatory support. All had serum/cerebrospinal fluid antibodies that predominantly immunolabeled the neuropil of hippocampus/forebrain, in particular the cell surface of hippocampal neurons, and reacted with NR2B (and to a lesser extent NR2A) subunits of the NMDAR. NR2B binds glutamate and forms heteromers (NR1/NR2B or NR1/NR2A/NR2B) that are preferentially expressed in the adult hippocampus/forebrain. Expression of functional heteromers (not single subunits) was required for antibody binding. Eleven patients had teratoma of the ovary (six mature) and one a mature teratoma in the mediastinum; five of five tumors examined contained nervous tissue that strongly expressed NR2 subunits and reacted with patients' antibodies. Tumor resection and immunotherapy resulted in improvement or full recovery of eight of nine patients (paralleled by decreased antibody titers); two of three patients without tumor resection died of neurological deterioration. Autopsies showed extensive microgliosis, rare T-cell infiltrates, and neuronal degeneration predominantly involving, but not restricted to, the hippocampus.InterpretationAntibodies to NR2B- and NR2A-containing heteromers of the NMDAR associate with a severe but treatment-responsive encephalitis. Our findings provide a diagnostic test and suggest a model of autoimmune NMDAR-related encephalitis with broad implications for other immune-mediated disorders of memory, behavior, and cognition.
| S-EPMC2430743 | biostudies-literature
Project description:Mature cystic teratoma is one of the most common tumors of the ovaries, testis, mediastinum, and retroperitoneum; however, secondary retroperitoneum lesions are rare entities in adults. We report a case of a 22-year-old female who was previously diagnosed with a mature teratoma of left ovarian was hospitalized due to dull abdominal pain in right hypochondria. Radiological evaluation revealed a mass in the right upper abdominal and flank region with an extension from the posterior aspect of the duodenum, composed of greasy and cystic elements. A tumor was resected through the Kocher's laparotomy and the pathology report confirmed the diagnosis of a mature cystic teratoma with no evidence of malignancy or immature components.
| S-EPMC6439285 | biostudies-literature
Project description:Mature cystic teratomas, also called dermoid cysts, are the most common germ-cell ovarian neoplasms in children. On average, ovarian dermoid cysts are slow-growing neoplasms with a mean size between 6.4 and 7.0 cm that enlarge at a rate of 1.8 mm/year; however, these can reach large dimensions. Giant ovarian tumors are defined as those having a maximum diameter equal to or more than 15 cm; these represent a therapeutic challenge as they increase the risk of wide wound size and surgical invasiveness. In this paper, we present a case of a 10-year-old Hispanic female that complained of abdominal pain, distension, and nausea. Physical examination revealed a mass on the left side of the abdomen and an axial computed tomography found a large pelvic tumor extending to the abdominal region. After a laparotomy approach, pathology evaluation confirmed the diagnosis of mature cystic teratoma. The patient recovered thoroughly and had no complications at a 6-month follow-up. We conducted a literature review including English and Spanish reports about giant ovarian teratomas; we retrieved 16 cases from 2003 to 2023. We concluded that giant ovarian tumors may be underreported, particularly in resource-limited areas where tumors might grow unrecognized, and that English-language bias might play a substantial role in literature reviews involving case reports and case series.
| S-EPMC10601794 | biostudies-literature
Project description: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.
| S-EPMC8535897 | biostudies-literature
Project description:Ovarian mature cystic teratomas comprise tissues derived from all three germ layers. In rare cases, malignant tumors arise from ovarian mature cystic teratoma. A variety of tumors can arise from mature cystic teratoma, among which primary malignant melanoma (MM), for which no molecular analyses such as genomic sequencing have been reported to date, is exceedingly rare, thereby limiting possible therapeutic options using precision medicine. We used targeted gene sequencing to analyze the status of 160 cancer-related genes in a patient with MM arising from an ovarian mature cystic teratoma (MM-MCT). KRAS amplification and homozygous deletion in PTEN and RB1 were detected in tumor samples collected from the patient. No KRAS amplification has been previously reported in cutaneous MM, indicating that the carcinogenesis of MM-MCT differs from that of primary cutaneous melanomas. A better understanding of the underlying genetic mechanisms will help clarify the carcinogenesis of MM-MCT. In turn, this will enable treatment with novel targeting agents as well as the initial exploration of gene-based precision oncological therapies, which aim to improve treatment outcomes for patients with this disease.
| S-EPMC7957566 | biostudies-literature
Project description:Primary ovarian neuroendocrine carcinoid tumors are extremely rare. However, their clinical course is good, and hence, fertility-sparing surgery is a feasible treatment option in cases of unilateral localized lesions. In this report, we present the case of a 20-year-old nulliparous woman who was diagnosed as having a primary ovarian neuroendocrine carcinoid tumor arising from a mature cystic teratoma. She underwent laparoscopic right ovarian cystectomy, and her postoperative recovery was uneventful. The patient has been under close observation over a 1-year follow-up period and has shown no evidence of tumor recurrence.
| S-EPMC10018419 | biostudies-literature
Project description:BackgroundOvarian teratoma-associated anti-N-methyl-D-aspartate receptor encephalitis (NMDAR-E) is a severe autoimmune neurological disorder, and the influence of teratoma-induced autoantibodies on the pathogenesis remains unclear.MethodsOvarian teratoma tissues were collected from teratoma patients with and without NMDAR-E. Proteins were extracted and then analyzed using iTRAQ-coupled LC-MS/MS, which was followed by bioinformatics analysis. Candidate proteins were verified by Western blotting and immunohistochemistry.ResultsIn total, 36 differentially expressed proteins (DEPs) were identified between the control group and NMDAR-E group, and the bioinformatics analysis revealed that the DEPs were mainly involved in immune-related pathways, especially HLA-A and HLA-DRB1. The western blotting results for HLA-A and HLA-DRB1 were consistent with the results of the iTRAQ analysis. Additionally, the immunohistochemical data revealed that the aggregation of HLA-A (+) and HLA-DRB1 (+) cells was more apparent in the teratoma tissues of NMDAR-E patients compared with that in the tissues of controls.ConclusionOur investigation indicated that HLA-A and HLA-DRB1 might be involved in mediating ovarian teratoma-associated NMDAR-E. These findings provide new insights into the pathophysiological mechanisms and provide information for the functional exploration of proteins in the future.
| S-EPMC7648266 | biostudies-literature
Project description:BackgroundAnti-N-methyl-D-aspartate-receptor (NMDAR) encephalitis is a common type of autoimmune encephalitis characterized by complex clinical signs and variable imaging manifestations. The pathogenesis of the disease is unclear. Syphilis is an infectious disease caused by Treponema pallidum that can invade the nervous and immune systems and cause systemic symptoms. There are few reports of anti-NMDAR encephalitis with syphilis, and the association between them is unknown; both diseases are related to immune system damage. We report a case of anti-NMDAR encephalitis with syphilis.Case summaryA 32-year-old man was admitted to our hospital with complaints of cognitive decline, diplopia, and walking instability during the previous 6 mo. He developed dysarthria, difficulty swallowing, and involuntary shaking of his head, neck, and limbs during the month prior to presentation. Cranial magnetic resonance imaging showed symmetrical abnormal signals in the pons, midbrain, and bilateral basal ganglia, and inflammatory demyelination was considered. The diagnosis of syphilis was confirmed based on the syphilis diagnosis test and the syphilis rapid test. He was given anti-syphilis treatment, but the above symptoms gradually worsened. Anti-NMDAR antibody was positive in cerebrospinal fluid but was negative in serum. Due to the cerebrospinal fluid findings, anti-NMDAR encephalitis was a consideration. According to the patient's weight, he was treated with intravenous methylprednisolone 1 g QD for 5 d, with the dose gradually decreased for 6 mo, and immunoglobulin 25 g QD for 5 d; his symptoms improved after treatment.ConclusionThis case shows that anti-NMDAR encephalitis may be combined with syphilis, which should be recognized to avoid misdiagnosis and treatment delay.
| S-EPMC7322422 | biostudies-literature
Project description:Cotard's syndrome is uncommon psychopathology among patients with psychotic illnesses. Limited cases had been reported regarding the occurrence of this syndrome in anti-NMDAR encephalitis which itself is a relatively new disease that often presents with florid psychotic symptoms. This poses difficulties in differentiating it from a primary psychiatric illness. Late recognition of anti-NMDAR encephalitis can lead to death as it can progress to autonomic instability in its natural course of illness. We report a patient who first presented with psychotic symptoms with initial negative findings from baseline investigations. Further investigation revealed anti NMDAR antibodies in the cerebrospinal fluid. Prompt treatment was initiated and despite early poor response to the first-line treatment with the development of allergic reaction, our patient recovered completely after 1 month of hospitalization. This case report aims to highlight the importance of early detection of anti-NMDAR encephalitis and the possibility of uncommon psychopathology such as Cotard's syndrome occurring in this disease.
| S-EPMC9114484 | biostudies-literature
Project description:We report an atypical case of anti-N-methyl-D-aspartate receptor encephalitis (ANMDARE). A 27-year-old man diagnosed with ANMDARE received immunotherapy and had a good recovery. However, within one month, he developed severe status epilepticus and decreased level of conscience with new hyperpyrexia and dyspnea, and was admitted to the emergency intensive care unit. Acinetobacter baumanii were found in the sputum culture; and anti-NMDAR antibodies were positive (titer: 1/80) in the cerebrospinal fluid. Repeated immunotherapy was administered with antibacterial agents, and the patient recovered except for mild psychiatric sequelae. This is the first report of ANMDARE that aggravates after acinetobacter baumannii pneumonia. Awareness and knowledge of this disorder should be extended, especially in the emergency medicine community.
| S-EPMC5618116 | biostudies-literature