Whole-exome sequencing of a meningeal melanocytic tumour reveals activating CYSLTR2 and EIF1AX hotspot mutations and similarities to uveal melanoma
(Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - February 23, 2018 Category: Neurology Source Type: research
Clinical significance of the 2016 WHO classification in Japanese patients with gliomas
In this study, we retrospectively compared the prognostic value of the 2016 WHO classification with the former classification in 387 patients with glioma treated at our institution. According to the new classification, diagnoses included oligodendroglioma withisocitrate dehydrogenase (IDH) mutation and 1p/19q co-deletion (5.4%), anaplastic oligodendroglioma withIDH mutation and 1p/19q co-deletion (3.4%), diffuse astrocytomaIDH-mutated (3.9%), anaplastic astrocytomaIDH-mutated (2.8%), glioblastomaIDH-mutated (7.8%), glioblastomaIDH-wildtype (58.4%), diffuse midline gliomaH3 K27M mutation (2.6%), oligodendroglioma NOS (1.3%)...
Source: Brain Tumor Pathology - February 22, 2018 Category: Neurology Source Type: research
A novel high-sensitivity assay to detect a small fraction of mutant IDH1 using droplet digital PCR
In conclusion, the ddPCR system is useful to identify a small fraction ofIDH1 mutation in diffuse infiltrative gliomas. This might be useful for precision medicine of these gliomas in the near future and also for the non-invasive diagnosis of these gliomas. (Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - February 19, 2018 Category: Neurology Source Type: research
Delayed leptomeningeal metastasis of an adult anaplastic pilocytic astrocytoma
(Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - January 13, 2018 Category: Neurology Source Type: research
New WHO classification of pituitary adenomas (4th edition): assessment of pituitary transcription factors and the prognostic histological factors
AbstractWHO classification of pituitary adenomas was revised in 2017. The two major and significant changes are discussed. (1) The new classification focuses on adenohypophysial-cell lineage for the designation of adenomas, and thus, assessment of pituitary transcription factors is recommended. Its appropriate use has a complementary role in obtaining an accurate diagnosis, particularly in hormone-negative adenomas. Subclassification of nonfunctioning adenomas was revised accordingly and, consequently, null cell adenomas became quite rare. (2) “Atypical adenoma”, a previous category, was eliminated due to the poor repr...
Source: Brain Tumor Pathology - January 9, 2018 Category: Neurology Source Type: research
A case report of adult cerebellar high-grade glioma with H3.1 K27M mutation: a rare example of an H3 K27M mutant cerebellar tumor
AbstractDiffuse midline glioma, H3 K27M mutant, is newly recognized as a distinct category, which usually arises in the brain stem, thalamus or spinal cord of children, and young adults. The oncogenic H3 K27M mutation involves H3.3 (encoded byH3F3A) or H3.1 (encoded byHIST1H3B/HIST1H3C), and the incidence of each mutation differs among the primary sites. Recently, several papers have reported that cerebellar high-grade gliomas in both children and adults also harbor H3 K27 mutation. With the exception of one pediatric case, all of the cases carried the mutation in H3.3. We herein present the case of an adult cerebellar hig...
Source: Brain Tumor Pathology - December 20, 2017 Category: Neurology Source Type: research
Research of differential expression of sIL1RAP in low-grade gliomas between children and adults
AbstractGlioma is the most common intracranial malignant tumor. Low-grade gliomas (LGG) occupy almost 80% in all of the gliomas. The prognosis of LGG in children is much better than in adult, however, the molecular mechanism is still unclear. In our investigation, it was first found that the level of soluble IL1RAP (sIL1RAP) was significantly higher in the LGG from children than that from adult. We also revealed that sIL1RAP could induce the apoptosis of U251. In cells with overexpression of sIL-1RAP, the cell proliferation promoted by IL-1 was significantly inhibited. These decreased tumor growth ability and better progno...
Source: Brain Tumor Pathology - December 13, 2017 Category: Neurology Source Type: research
Enchondromatosis-associated oligodendroglioma: case report and literature review
AbstractEnchondromatosis is a rare skeletal disorder characterized by the development of multiple enchondromas, which can also manifest non-cartilage tumors including gliomas. Here, we describe a genetic analysis of a low-grade glioma that developed in an enchondromatosis case. A 32-year-old man with a long history of enchondromatosis developed a left frontal tumor. The histopathological findings of his surgical specimen revealed characteristics of a low-grade glioma with anIDH1 c.395G>A (R132H) mutation and 1p/19q codeletion, which led to a definitive diagnosis of oligodendroglioma. A common point mutation inIDH1 (R132...
Source: Brain Tumor Pathology - December 9, 2017 Category: Neurology Source Type: research
Glioblastoma in neurofibromatosis 1 patients without IDH1, BRAF V600E, and TERT promoter mutations
AbstractPilocytic astrocytomas and low-grade gliomas are more common compared with glioblastomas in patients with neurofibromatosis 1 (NF1). A recent genome-wide analysis has shown frequentNF1 gene alterations in the mesenchymal subtype of a glioblastoma; however, little is known about clinicopathological features of glioblastomas in NF1 patients (NF1 glioblastomas). We analyzed four NF1 glioblastomas. Radiographical and intraoperative findings showed well-circumscribed tumors from surrounding brain. Pathological analysis presented a paucity of processes with an eosinophilic cytoplasm, bizarre nuclei, xanthomatous-like app...
Source: Brain Tumor Pathology - November 14, 2017 Category: Neurology Source Type: research
RELA fusion-positive anaplastic ependymoma: molecular characterization and advanced MR imaging
(Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - October 11, 2017 Category: Neurology Source Type: research
Tissue microarray analysis for epithelial membrane protein-2 as a novel biomarker for gliomas
AbstractEpithelial membrane protein-2 (EMP2) expression is noted in many human cancers. We evaluated EMP2 as a biomarker in gliomas. A large tissue microarray of lower grade glioma (WHO grades II –III,n = 19 patients) and glioblastoma (GBM) (WHO grade IV,n = 50 patients) was stained for EMP2. EMP2 expression was dichotomized to low or high expression scores and correlated with clinical data. The mean EMP2 expression was 1.68 in lower grade gliomas versus 2.20 in GBMs (P = 0.01). The percentage of samples with high EMP2 expression was greater in GBMs than lower grade gliomas (90.0 vs. 52.6%,P = 0.001). No signific...
Source: Brain Tumor Pathology - September 8, 2017 Category: Neurology Source Type: research
Updated 2016 WHO classification of tumors of the CNS: turning the corner where molecule meets pathology
(Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - August 24, 2017 Category: Neurology Source Type: research
Diencephalic pediatric low-grade glioma harboring the BRAF V600E mutation presenting with various morphologies in sequential biopsy specimens
AbstractA 5-year-old boy underwent biopsy of an intra-axial calcified tumor in the hypothalamus, which was incidentally found. Based on the presence of ganglion-like cells combined with glial cell element, the pathological diagnosis was ganglioglioma. Because the tumor grew gradually in size over the next 2 years, he underwent chemotherapy with temozolomide. However, at 8 years of age, the boy developed hydrocephalus and the cystic lesion had re-grown. Endoscopic cyst fenestration and tumor biopsy was performed, and pathological diagnosis was tentatively oligodendroglioma based on the presence of tu mor cells with a per...
Source: Brain Tumor Pathology - August 23, 2017 Category: Neurology Source Type: research
Encouraging option of multi-staged gross total resection for a C11orf - RelA fusion-positive supratentorial anaplastic ependymoma
In this study, we encountered a case ofC11orf–RelA fusion-positive ST anaplastic ependymoma that was diagnosed in first tumor resection surgery of multi-staged gross total resection with molecular evidence. In ependymomas, regardless of tumor location or pathological grade, subtotal resection is associated with higher rates of mortality compared with GTR. Molecular analysis based on the application of recent molecular knowledge for ST ependymomas performs a role in appropriate and individualized treatment strategies. (Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - August 22, 2017 Category: Neurology Source Type: research
Downregulation of SMARCB1 /INI1 expression in pediatric chordomas correlates with upregulation of miR-671-5p and miR-193a-5p expressions
We examined 5 reported/target predicted miRNAs toSMARCB1/INI1 inSMARCB1/INI1 immunonegative and immunopositive cases, and found upregulation of miR-671-5p and miR-193a-5p inSMARCB1/INI1-immunonegative cases. Notably, these two miRNAs were significantly predicted to target TGF- β signaling, suggestive of dysregulation of developmental and osteoblast regulation pathway in CCs. Overall, we suggest miR-671-5p- and miR-193a-5p-mediated epigenetic mode ofSMARCB1/INI1 loss and downregulated TGF- β pathway in CCs. (Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - August 20, 2017 Category: Neurology Source Type: research
