A case series of Diffuse Glioneuronal Tumours with Oligodendroglioma-like features and Nuclear Clusters (DGONC).
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ABSTRACT:
SUBMITTER: Pickles JC
PROVIDER: S-EPMC8048648 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description: Not available
| S-EPMC9719366 | biostudies-literature
Project description:Diffuse leptomeningeal glioneuronal tumor is a newly defined entity under the neuronal and mixed neuronal-glial tumors category in the 2016 World Health Organization classification of brain tumors. In this series, we report clinical, radiologic, and histologic findings in 7 cases of diffuse leptomeningeal glioneuronal tumor. Our cases and literature review indicate that the most characteristic imaging finding is diffuse intracranial and intraspinal nodular leptomeningeal thickening and enhancement. This is often associated with small cyst-like, nonenhancing lesions. It should be noted that tumors sometimes bear nontypical features, for example, presenting as a solitary spinal cord mass without leptomeningeal involvement or with a dominant intracranial mass. In children with characteristic imaging findings and without clinical features of infection, the radiologist has an opportunity to promptly raise the possibility of diffuse leptomeningeal glioneuronal tumor, and thereby, affect streamlined diagnostic evaluation.
| S-EPMC7658820 | biostudies-literature
Project description:BackgroundPatients with a lesion within the amygdala and uncus may develop temporal lobe epilepsy despite having functional mesial structures. Resection of functional hippocampus and surrounding structures may lead to unacceptable iatrogenic deficits. To our knowledge, there is limited descriptions of surgical techniques for selectively resecting the amygdala and uncus lesions while preserving the hippocampus in patients with language-dominant temporal lobe pathology.MethodsThirteen patients with language-dominant temporal lobe epilepsy related to amygdala-centric lesions were identified. Patients with sclerosis of the mesial structures or evidence of pathology outside of the amygdala-uncus region were excluded. Neuropsychological evaluation confirmed normal function of the mesial structures ipsilateral to the lesion. All patients were worked up with video-EEG, high-resolution brain MRI, neuro-psychology evaluation, and either Wada or functional MRI testing.ResultsAll patients underwent selective resection of the lesion including amygdala and uncus with preservation of the hippocampus via a transcortical inferior temporal gyrus approach to the mesial temporal lobe. Pathology was compatible with glioneuronal tumors. Post-operative MRI demonstrated complete resection in all patients. Eight of the thirteen patients underwent post-operative neuropsychology evaluations and did not demonstrate any significant decline in tasks of delayed verbal recall or visual memory based on the Rey Auditory Verbal Learning Test (RAVLT). One patient showed a slight decrease in confrontation naming using the Boston Naming Test (BNT). Seizure freedom (Engel class I) was achieved in 12 of 13 patients.ConclusionSelective transcortical amygdala and uncus resection with hippocampus preservation may be a reasonable way to achieve seizure control while sparing functional mesial structures.
| S-EPMC7066292 | biostudies-literature
Project description:Glioneuronal tumours are an important cause of treatment-resistant epilepsy. Subtypes of tumour are often poorly discriminated by histological features and may be difficult to diagnose due to a lack of robust diagnostic tools. This is illustrated by marked variability in the reported frequencies across different epilepsy surgical series. To address this, we used DNA methylation arrays and RNA sequencing to assay the methylation and expression profiles within a large cohort of glioneuronal tumours. By adopting a class discovery approach, we were able to identify two distinct groups of glioneuronal tumour, which only partially corresponded to the existing histological classification. Furthermore, by additional molecular analyses, we were able to identify pathogenic mutations in BRAF and FGFR1, specific to each group, in a high proportion of cases. Finally, by interrogating our expression data, we were able to show that each molecular group possessed expression phenotypes suggesting different cellular differentiation: astrocytic in one group and oligodendroglial in the second. Informed by this, we were able to identify CCND1, CSPG4, and PDGFRA as immunohistochemical targets which could distinguish between molecular groups. Our data suggest that the current histological classification of glioneuronal tumours does not adequately represent their underlying biology. Instead, we show that there are two molecular groups within glioneuronal tumours. The first of these displays astrocytic differentiation and is driven by BRAF mutations, while the second displays oligodendroglial differentiation and is driven by FGFR1 mutations.
| S-EPMC5756244 | biostudies-literature
Project description:Glioneuronal tumor (GN) is one type of biphasic central nervous system (CNS) tumor that exhibits both glial and neuronal immunohistological characteristics. We report a case of glioneuronal tumor (GN) with a discovery of novel gene fusion of CLIP2-MET resulting from aberrant chromosome 7 abnormalities. The tumor exhibited typical characteristics on histological examinations. We executed an elaborate genomic study on this case including whole-exome sequencing and RNA sequencing. Genomic analysis of the tumor revealed aberrations in chromosomes 1 and 7 and a CLIP2-MET fusion. Further analysis of the upregulated genes revealed substantial connections with MAPK pathway activation. We concluded that the chromosome 7 abnormalities prompted CLIP2-MET gene fusion which successively leads to MAPK pathway activation. We deliberated that MAPK pathway activation is responsible for the oncogenesis of GN based on our case and other previously reported ones.
2019-12-28 | GSE142668 | GEO
Project description:Primary breast lymphoma (PBL) is a rare disease, and few clinicohistopathologic features of the disease have been discussed in previous studies. It represents 2.2% of extranodal lymphomas and constitutes 0.04% to 0.5% of malignant breast neoplasms, despite the clinical and radiographic similarities between breast lymphoma and carcinoma, the prognosis, as reported in the literature, varies. No consensus exists on the best way to treat PBL. However, radiotherapy and chemotherapy were used alone or in combination to treat various cases of PBL. We retrospectively studied 3 cases of PBL of the breast seen in patients attending a tertiary cancer center in Qatar, between 2012 and 2015, in an attempt to determine the common clinical features, therapy, and prognosis of PBL.
| S-EPMC5560510 | biostudies-other
Project description:BACKGROUND:Histopathological diagnosis is important for prognostication and choice of treatment in patients with cancer in the lung. Metastases to the lungs are common and need to be distinguished from primary lung cancer. Furthermore, cases with synchronous or metachronous primary lung cancers (although infrequent) are often handled differently than cases with lung cancer with intrapulmonary metastasis or relapse, respectively. In some cases, morphology and immunohistochemical staining is not sufficient for certain diagnosis. METHODS:The present study included six cases where molecular genetic analysis in form of pyrosequencing or targeted next-generation sequencing was of value for certain diagnosis of selected tumours in the lung. RESULTS:Two of the included cases were rare metastases to the lung; colorectal cancer with IHC profile consistent with primary lung cancer and malignant adenomyoepithelioma of the breast, respectively, where molecular genetic analysis was of aid for proving the relationship to the primary tumour. The other four cases were multiple lung adenocarcinomas where molecular genetic analysis was of aid to distinguish between intrapulmonary metastasis and synchronous tumour. CONCLUSIONS:Comparison of molecular genetic profile may be an important tool for determination of relationship between tumours in some situations and should always be considered in unclear cases. Further studies on concordance and discordance of molecular genetic profiles between spatially or temporally different tumours with common origin may be helpful for improved diagnostics of pulmonary tumours.
| S-EPMC5368924 | biostudies-literature
Project description:BackgroundRenal pelvic hemangioma (RPH) is often misdiagnosed as renal pelvis cancer (RPC) due to its similarity in presentation, and there are few reports on the imaging findings of RPH. This study is aimed at improving the understanding of imaging findings specific for RPH by a retrospective analysis of the imaging findings of RPH.MethodsRPH cases confirmed by pathology and with high-quality images were collected in the analysis. Nine cases of RPH were enrolled, of which 6 cases underwent ultrasound (US); 7 cases underwent computed tomography (CT), including 6 cases with an enhanced scan; and 2 cases underwent magnetic resonance imaging (MRI), including 1 case with an enhanced scan. All images of cases were analyzed and sorted independently by two senior attending radiologist blinded to the pathological results, according to the imaging indicators, such as the density and intensity on CT and MRI respectively. When the opinions between radiologists were inconsistent, images were re-evaluated together until a consensus was reached.ResultsNine cases of RPH were collected from 5 males and 4 females, aged 16-70 years old, with a median age of 41 years. Five cases were located in the left kidney and 4 cases were located in the right kidney. The clinical symptoms mostly presented with hematuria. Nine cases demonstrated solitary masses, with 4 cases with blurred margins and 5 cases with well-defined margins. The size of the mass was about 1.5-8.0 cm, and the median size was 2.5 cm. The US showed mostly hypoechoic masses and color Doppler flow imaging (CDFI) showed minimal to no blood flow signal. Unenhanced CT scans showed mostly hypodensity and mostly mild continuous enhancement on an enhanced scan. The intensity of lesions was commonly heterogeneous on MRI due to hemorrhage and necrosis. One case showed mild continuous enhancement on an enhanced MRI scan.ConclusionsThe imaging findings of RPH commonly present as a focal lesion with blurred or well-defined margins, mild and continuous enhancement, and no cachexia of the clinical symptoms. RPH should be differentiated from malignant tumors of the renal pelvis for treatment.
| S-EPMC8575578 | biostudies-literature
Project description:Diffuse leptomeningeal glioneuronal tumours (DLGNT) represent rare enigmatic CNS tumours of childhood. Most patients with this disease share common radiological and histopathological features but the clinical course of this disease is variable. A radiological hallmark of this disease is widespread leptomeningeal enhancement that may involve the entire neuroaxis with predilection for the posterior fossa and spine. The classic pathologic features include low- to moderate-density cellular lesions with OLIG2 expression and evidence of 'oligodendroglioma-like' appearance. The MAPK/ERK signaling pathway has recently been reported as a potential driver of tumourigenesis in up to 80% of DLGNT with KIAA1549:BRAF fusions being the most common event seen. Until now, limited analysis of the biological drivers of tumourigenesis has been undertaken via targeted profiling, chromosomal analysis and immunohistochemistry. Our study represents the first examples of comprehensive genomic sequencing in DLGNT and shows that it is not only feasible but crucial to our understanding of this rare disease. Moreover, we demonstrate that DLGNT may be more genomically complex than single-event MAPK/ERK signaling pathway tumours.
| S-EPMC8422739 | biostudies-literature
Project description:Exome sequencing - GLI1 induced primary and serially transplanted tumours -Series C
| PRJEB30550 | ENA