Low-Grade Oligodendroglioma of the Pineal Region: Case Report.
Ontology highlight
ABSTRACT:
SUBMITTER: Lamis FC
PROVIDER: S-EPMC4520971 | biostudies-other | 2015 Jul
REPOSITORIES: biostudies-other
Similar Datasets
Project description:BackgroundFull endoscopic resection of solid brain tumors represents a challenge for neurosurgeons. This can be achieved with modern technology and advanced surgical tools.Case descriptionA 23-years-old male was referred to our unit with raised intracranial pressure. Head computed tomography and magnetic resonance imaging (MRI) revealed obstructive hydrocephalus and a third ventricle lesion. Endoscopic third ventriculostomy and biopsy were performed, a left frontal external ventricular drain was left in place. A second-look surgery for endoscopic removal was planned. Decision to proceed with an endoscopic removal was supported by the following characteristics found during the first surgery: tumor exophytic, soft texture, scarce vascularity, and low-grade appearance. A rescue strategy for microscopic resection via transcallosal approach was decided. A straight trajectory to the tumor was planned with navigation. A further anterior left frontal burr-hole was performed, and the ventricular system was entered via the left frontal horn. Resection was carried out alternating laser for hemostasis and cutting, endoscopic ultrasonic aspirator, and endoscopic forceps for piecemeal resection. Laser hemostasis and cutting (1 Watt power at tip, continuous wave mode) were useful at the ventricular wall-tumor interface. Relevant landmarks guided the approach and the resection (foramen of Monro, mammillary bodies, aqueduct, pineal and suprapineal recess, and posterior commissure). The surgery was carried uneventfully. Histopathology confirmed a lowgrade ependymoma. Post-operative MRI showed residual tumor within the lower aqueduct. At 3 years follow-up, residual tumor is stable.ConclusionIn selected cases, endoscopic resection for third ventricular tumors is feasible and safe, and represents a valid alternative to microsurgical approaches.
| S-EPMC8248020 | biostudies-literature
Project description:We present a case of de novo polymorphous low-grade adenocarcinoma (PLGA) arising in a minor salivary gland with a relatively large radiographic extent compared with that of most of the PLGAs reported. This paper describes the radiographic extent of the lesion and the findings of CT imaging.
| S-EPMC3699016 | biostudies-other
Project description:As an oncogenic somatic variant, telomerase reverse transcriptase promoter (TERTp) mutations are frequently observed in adult glioblastoma (GBM). Alternatively, we report the first case of glioblastoma with TERT amplification accompanied by multiple TERT and FGFR2 gene fusions instead of TERTp mutation. A 55-year-old woman presented with dizziness, headache, and diplopia for three weeks. Magnetic resonance imaging (MRI) demonstrated a heterogeneously enhancing lobulated mass centered in the pineal region. Partial tumor resection and ventriculoperitoneal shunt were achieved, and the residual tumor was then treated with standard radiation. The tumor was diagnosed as GBM, IDH-wild type, WHO grade IV, and the Ki67 proliferation index was high (30-40%). Intriguingly, TERT amplification without TERTp mutation was identified via next generation sequencing (NGS). Further analysis revealed multiple TERT (TERT-NUBPL, MARCH6-TERT, and CJD4-TERT) and FGFR2 (CXCL17-FGFR2, SIPA1L3-FGFR2, FGFR2-SIPA1L3, and FGFR2-CEACAM1) gene fusions. After the surgery, the patient's condition deteriorated rapidly due to the malignant nature of the tumor and she died with an overall survival of 3 months. Our report provides the molecular clue for a novel telomerase activation and maintenance mechanism in GBM.
| S-EPMC8716851 | biostudies-literature
Project description:•We present a case of uterine carcinoma with low-grade carcinomatous and sarcomatous components.•The tumor is likely a rare biphasic form of carcinosarcoma.•Molecular profiling suggests that it is a Type I endometrial cancer.•The tumor was extremely chemotherapy-resistant.
| S-EPMC4688825 | biostudies-literature
Project description:Objectives: To investigate the ability of radiomics features from MRI in differentiating anaplastic oligodendroglioma (AO) from atypical low-grade oligodendroglioma using machine-learning algorithms. Methods: A total number of 101 qualified patients (50 participants with AO and 51 with atypical low-grade oligodendroglioma) were enrolled in this retrospective, single-center study. Forty radiomics features of tumor images derived from six matrices were extracted from contrast-enhanced T1-weighted (T1C) images and fluid-attenuation inversion recovery (FLAIR) images. Three selection methods were performed to select the optimal features for classifiers, including distance correlation, least absolute shrinkage and selection operator (LASSO), and gradient boosting decision tree (GBDT). Then three machine-learning classifiers were adopted to generate discriminative models, including linear discriminant analysis, support vector machine, and random forest (RF). Receiver operating characteristic analysis was conducted to evaluate the discriminative performance of each model. Results: Nine predictive models were established based on radiomics features from T1C images and FLAIR images. All of the classifiers represented feasible ability in differentiation, with AUC more than 0.840 when combined with suitable selection method. For models based on T1C images, the combination of LASSO and RF classifier represented the highest AUC of 0.904 in the validation group. For models based on FLAIR images, the combination of GBDT and RF classifier showed the highest AUC of 0.861 in the validation group. Conclusion: Radiomics-based machine-learning approach could potentially serve as a feasible method in distinguishing AO from atypical low-grade oligodendroglioma.
| S-EPMC6929242 | biostudies-literature
Project description:BackgroundPatients with low-grade gliomas (LGGs) with isocitrate dehydrogenase (IDH) mutation (mut) and 1p19q codeletion (codel) have a median overall survival of longer than 10 years. The aim of this study is to assess the role of postsurgical treatments.Subjects, materials, and methodsWe evaluated patients with LGGs with IDH mut and 1p19q codel; IDH1/2 was performed by immunohistochemistry and quantitative polymerase chain reaction. In all wild-type cases, we performed next-generation sequencing. 1p19 codel analysis was performed by fluorescence in situ hybridization.ResultsAmong the 679 patients, 93 with LGGs with IDH mutation and 1p19q codel were included. Median follow-up (FU) was 96.1 months. Eighty-four patients (90.3%) were high risk according to Radiation Therapy Oncology Group criteria. After surgery, 50 patients (53.7%) received only FU, 17 (18.3%) chemotherapy (CT), and 26 (30.1%) radiotherapy (RT) with (RT + CT, 8 patients, 8.6%) or without (RT, 18 patients, 19.4%) chemotherapy. Median progression-free survival (mPFS) was 46.3 months, 50.8 months, 103.6 months, and 120.2 months in patients with FU alone, with CT alone, with RT alone, or with RT + CT, respectively. Median PFS was significantly longer in patients who received postsurgical treatment (79.5 months, 95% confidence interval [CI]: 66.4-92.7) than patients who received FU (46.3 months, 95% CI: 36.0-56.5). Moreover, mPFS was longer in patients who received RT (alone or in combination with CT, n = 26, 113.8 months, 95% CI: 57.2-170.5) than those who did not (n = 67, 47.3 months, 95% CI: 36.4-58.2). In particular, temozolomide alone did not improve PFS with respect to FU.ConclusionRT with or without chemotherapy, but not temozolomide alone, could extend PFS in IDH mut 1p19q codel LGGs.Implications for practiceLow-grade gliomas with high-risk features, defined according to Radiation Therapy Oncology Group criteria, receive radiotherapy and/or chemotherapy as postsurgical treatments. Radiotherapy, however, has serious long-term effects (cognitive impairment), which are to be taken into account in these young patients. Moreover, low-grade gliomas with isocitrate dehydrogenase mutation and 1p19q codeletion (oligodendrogliomas) have an extremely long survival and a better prognosis. This study suggests that postsurgical treatments prolong the time before tumor progression in patients with good prognosis as well as those with oligodendroglioma. Moreover, temozolomide alone might not be effective in prolonging progression-free survival.
| S-EPMC6516106 | biostudies-literature
Project description:Oligodendrogliomas represent the third most common type of glioma, comprising 4%-15% of all gliomas and can be classified by degree of malignancy into grade II and grade III, according to WHO classification. Only 30% of oligodendroglial tumors have anaplastic characteristics. Anaplastic oligodendroglioma (AO) is often localized as a single lesion in the white matter and in the cortex, rarely in brainstem or spinal cord. The management of AO is deeply changed in the recent years. Maximal safe surgical resection followed by radiotherapy (RT) was considered as the standard of care since paramount findings regarding molecular aspects, in particular co-deletion of the short arm of chromosome 1 and the long arm of chromosome 19, revealed that these subsets of AO, benefit in terms of overall survival (OS) and progression-free survival (PFS), from the addition of chemotherapy to RT. Allelic losses of chromosomes 1p and 19q occur in 50%-70% of both low-grade and anaplastic tumors, representing a strong prognostic factor and a powerful predictor of prolonged survival. Several other molecular markers have potential clinical significance as IDH1 mutations, confirming the strong prognostic role for OS. Malignant brain tumors negatively impacts on patients' quality of life. Seizures, visual impairment, headache, and cognitive disorders can be present. Moreover, chemotherapy and RT have important side effects. For these reasons, "health-related quality of life" is becoming a topic of growing interest, investigating on physical, mental, emotional, and social well-being. Understanding the impact of medical treatment on health-related quality of life will probably have a growing effect both on health care strategies and on patients.
| S-EPMC4524382 | biostudies-literature
Project description:BackgroundWe present a rare case where distant metastasis of a low grade bladder tumor was observed. We carried out detailed genomic analysis and cell based experiments on patient tumor samples to study tumor evolution, possible cause of disease and provide personalized treatment strategies.Case presentationA man with a smoking history was diagnosed with a low-grade urothelial carcinoma of the bladder and a concurrent high-grade upper urinary tract tumor. Seven years later he had a lung metastasis. We carried out exome sequencing on all the patient's tumors and peripheral blood (germline) to identify somatic variants. We constructed a phylogenetic tree to capture how the tumors are related and to identify somatic changes important for metastasis. Although distant metastasis of low-grade bladder tumor is rare, the somatic variants in the tumors and the phylogenetic tree showed that the metastasized tumor had a mutational profile most similar to the low grade urothelial carcinoma. The primary and the metastatic tumors shared several important mutations, including in the KMT2D and the RXRA genes. The metastatic tumor also had an activating MTOR mutation, which may be important for tumor metastasis. We developed a mutational signature to understand the biologic processes responsible for tumor development. The mutational signature suggests that the tumor mutations are associated with tobacco carcinogen exposure, which is concordant with the patient's smoking history. We cultured cells from the lung metastasis to examine proliferation and signaling mechanisms in response to treatment. The mTOR inhibitor Everolimus inhibited downstream mTOR signaling and induced cytotoxicity in the metastatic tumor cells.ConclusionWe used genomic analysis to examine a rare case of low grade bladder tumor metastasis to distant organ (lung). Our analysis also revealed exposure to carcinogens found is tobacco as a possible cause in tumor development. We further validated that the patient might benefit from mTOR inhibition as a potential salvage therapy in an adjuvant or recurrent disease setting.
| S-EPMC6122771 | biostudies-literature
Project description:Glioma is the most common primary malignant brain tumor with a poor prognosis. Immune checkpoint inhibitors have been of great interest in investigation of glioma treatments. Here, we report single-cell transcriptomic analyses of two tumor areas from an oligodendroglioma taken from a patient who had multiple tumor recurrences, following several chemotherapies and radiation treatments. The patient subsequently received nivolumab and was considered have disease progression based on conventional diagnostic imaging after two cycles of treatment. He underwent a debulking surgical resection and pathological diagnosis was recurrent disease. During the surgery, tumor tissues were also collected from the enhancing and non-enhancing areas for a scRNAseq analysis to investigate the tumor microenvironment of these radiographically divergent areas. The scRNAseq analysis reveals a plethora of immune cells, suggesting that the increased mass observed on MRI may be partially a result of immune cell infiltration. The patient continued to receive immunotherapy after a short course of palliative radiation and remained free of disease progression for at least 12 months after the last surgery, suggesting a sustained response to immunotherapy. The scRNAseq analysis indicated that the radiological progression was in large part due to immune cell infiltrate and continued immunotherapy led to a positive clinical outcome in a patient who would have otherwise been admitted to hospice care with halting of immunotherapy. Our study demonstrates the potential of scRNAseq analyses in understanding the tumor microenvironment, which may assist the clinical decision-making process for challenging glioma cases following immunotherapy.
| S-EPMC7841290 | biostudies-literature
Project description:Salivary adenocarcinoma, not otherwise specified (AdCaNOS) is a rare malignant tumor with potential diagnostic challenge, which mainly affects the parotid glands; however, the minor salivary glands can also be involved by AdCaNOS. This paper reports a case of a 45-year-old Afro-descendant woman complaining of a slow-growing mass with 6 months of evolution in the left superior vestibular fornix. Microscopic examination revealed an infiltrative epithelial neoplasm composed of predominantly solid growth pattern, arranged in a lobular configuration, admixed with glandular or ductal structures. Perineural invasion was evident. The tumor cells were polygonal or oval showing focally mild nuclear pleomorphism, and eosinophilic or clear cytoplasm. Notably, some areas exhibited intracytoplasmic pigment granules mainly in non-luminal cells, as well as sebaceous-like cells, discrete hyaline material deposition and foci of infiltration of residual salivary gland parenchyma. Tumor cells were negative for PAS, mucicarmine and Alcian blue stains. By immunohistochemistry, the tumor cells were diffuse and strongly positive for pan-cytokeratin (CK) AE1/AE3, 34betaE12 CK, vimentin, p63 and S100. CK7 and EMA strongly highlighted the ductal structures. Solid areas also showed diffuse and moderate expression of CD56. Podoplanin (D2-40), GFAP and Calponin, followed by DOG-1, were focally positive; whereas CK20, ?-SMA, h-Caldesmon, CD57, ERBB2/HER2 and p53 were negative. Ki-67 was <?2%. Consecutive serial tissue sections using CD57 confirmed the perineural invasion. Positivity for HMB-45 and MART-1/Melan-A, as well as Fontana-Masson stain (and potassium permanganate bleaching-sensitive), identified the pigment granules as melanin. To the best of our knowledge, this is the first case of intraoral low-grade AdCaNOS with intracytoplasmic melanin granules.
| S-EPMC6232216 | biostudies-literature