Primary spinal intramedullary Ewing-like sarcoma harboring CIC - DUX4 translocation: a similar cytological appearance as its soft tissue counterpart but no lobulation in association with desmoplastic stroma
We report a rare case of primary spinal intramedullary Ewing-like sarcoma harboringCIC-DUX4 translocation. A 23-year-old man presented with weakness in the extremities. Magnetic resonance imaging revealed a large intramedullary tumor spanning C3 –C5 with heterogeneous enhancement following gadolinium administration. Histologically, most of the tumor displayed dense myeloid proliferation composed of medium- to slightly small-sized primitive cells. Postoperatively, he received local adjuvant radiation therapy without tumor progression for 1 0 months. Target RNA sequencing analysis revealed theCIC-DUX4 fusion gene. Methyla...
Source: Brain Tumor Pathology - May 23, 2020 Category: Neurology Source Type: research
Placental alkaline phosphatase in cerebrospinal fluid as a biomarker for optimizing surgical treatment strategies for pineal region germ cell tumors
AbstractPineal region germ cell tumors are a heterogenous group of tumors; of these, pure germinoma shows high sensitivity to adjuvant therapy, and the timing and sequence of surgical intervention and adjuvant/neoadjuvant therapy are important for devising a treatment strategy for intracranial germ cell tumors (IGCT). Biopsy is diagnostically useful, but is often insufficient because only a limited amount of specimen can be obtained. In the present study, we aimed to determine the value of cerebrospinal fluid placental alkaline phosphatase (PLAP) levels, reflecting the presence of germinoma, as a reliable indicator to dete...
Source: Brain Tumor Pathology - May 4, 2020 Category: Neurology Source Type: research
Molecular characteristics and clinical outcomes of elderly patients with IDH -wildtype glioblastomas: comparative study of older and younger cases in Kansai Network cohort
AbstractAging is a known negative prognostic factor in glioblastomas (GBM). Whether particular genetic backgrounds are a factor in poor outcomes of elderly patients with GBM warrants investigation. We aim to elucidate any differences between older and younger adult patients withIDH-wildtype GBM regarding both molecular characteristics and clinical outcomes. We collected adult cases diagnosed withIDH-wildtype GBM from the Kansai Network. Clinical and pathological characteristics were analyzed retrospectively and compared between older ( ≥ 70 years) and younger (≤ 50 years) cases. Included were 92 older vs. 33 youn...
Source: Brain Tumor Pathology - May 1, 2020 Category: Neurology Source Type: research
Preface
(Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - April 27, 2020 Category: Neurology Source Type: research
Malignant transformation of a dysembryoplastic neuroepithelial tumor verified by a shared copy number gain of the tyrosine kinase domain of FGFR1
AbstractDysembryoplastic neuroepithelial tumors (DNTs) are regarded as benign glioneuronal neoplasms because of their excellent outcomes; however, rare DNTs show malignant transformation. We herein described a case of DNT showing malignant transformation. The patient had intractable epilepsy caused by a tumor at 1 year of age and partial resection was performed. After surgery, the residual tumor showed regrowth and surgery was performed again at 4 years of age. The resected tumor showed the typical histological features of DNT, such as specific glioneuronal elements and alveolar structures. Tumor regrowth was detected a...
Source: Brain Tumor Pathology - April 14, 2020 Category: Neurology Source Type: research
Correlation between IDH , ATRX , and TERT promoter mutations in glioma
This study analyzedIDH,ATRX, andTERT promoter mutations, and the correlation between them. Immortalized cells overcome the telomere-related crisis by activating telomerase or ALT. In glioma, telomerase is mainly activated byTERT promoter mutation, while ALT is usually associated withATRX mutation. Although the mechanism of howATRX mutation induces ALT remains unclear, ATRX loss alone is believed to be insufficient to induce ALT. Treatments targeting telomere maintenance are promising. (Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - March 28, 2020 Category: Neurology Source Type: research
Intracranial myxoid mesenchymal tumor with EWSR1 – CREB1 gene fusion: a case report and literature review
Abstract
Intracranial myxoid mesenchymal tumors harboringEWSR1 fusions withCREB transcriptional factor gene families were recently described in several case reports and a few case series and this tumor closely resembles the myxoid variant of angiomatoid fibrous histiocytoma. We herein present an intracranial mesenchymal myxoid tumor arising in the third ventricle of a middle-aged woman. The tumor displayed prominent myxoid features consisting of mildly atypical oval to round cells, arranged in reticular and cord-like structures, with starburst-like amianthoid fibers, whereas it lacked pseudoangiomatoid spaces, pseudocap...
Source: Brain Tumor Pathology - March 24, 2020 Category: Neurology Source Type: research
Updating the grading criteria for adult diffuse gliomas: beyond the WHO2016CNS classification
(Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - February 13, 2020 Category: Neurology Source Type: research
Infiltration of CD163-positive macrophages in glioma tissues after treatment with anti-PD-L1 antibody and role of PI3K γ inhibitor as a combination therapy with anti-PD-L1 antibody in in vivo model using temozolomide-resistant murine glioma-initiating cells
AbstractAlthough chemoimmunotherapy often lengthens glioblastoma (GBM) survival, early relapses remain problematic as immunosuppressive M2 macrophages (M ϕ) that function via inhibitory cytokine and PD-L1 production cause immunotherapy resistance. Here, we detail anti-PD-L1 antibody effects on the tumor microenvironment, including Mϕ infiltration, using a temozolomide (TMZ)-treated glioma model. In addition, we tested combinations of anti-PD-L1 ant ibody and the M2Mϕ inhibitor IPI-549 on tumor growth. We simulated late TMZ treatment or relapse stage, persistent GBM cells by generating TMZ-resistant TS (TMZRTS) cells. M2...
Source: Brain Tumor Pathology - January 23, 2020 Category: Neurology Source Type: research
Cells with ganglionic differentiation frequently stain for VE1 antibody: a potential pitfall
AbstractMitogen-activated protein kinase (MAPK) pathway plays a major role in pediatric low-grade gliomas (pLGGs). Immunohistochemistry with mutant-specific antibody, VE1, has appeared to be the most affordable and rapidly deployable method to identify tumors with aberrant MAPK signaling pathway, by highlighting tumor withBRAFV600E mutation. Nonetheless, positive staining cases but not associated withBRAFV600E mutation are also seen. We analyzed 62 pLGGs for the two commonest genetic aberrations in MAPK pathway:KIAA1549-BRAF fusion, using reverse-transcriptase polymerase chain reaction, andBRAFV600E mutation, using VE1 ant...
Source: Brain Tumor Pathology - December 8, 2019 Category: Neurology Source Type: research
Giant cell glioblastoma is a distinctive subtype of glioma characterized by vulnerability to DNA damage
AbstractGiant cell glioblastoma (GC-GBM) consists of large cells with pleomorphic nuclei. As a contrast to GC-GBM, we defined monotonous small GBM (MS-GBM) as GBM that consists of small cells with monotonous small nuclei, and compared the DNA damage as well as other pathological features. GC-GBM showed minimal invasion (< 2 mm) and focal sarcomatous areas.TERTp was wild type in GC-GBM but mutant in MS-GBM. OLIG2 expression was significantly higher in MS-GBM (P < 0.01) (77% in MS-GBM and 7% in GC-GBM). GC-GBM showed significantly higher DNA double-strand breaks (DSBs) compared with MS-GBM (P < 0.01)...
Source: Brain Tumor Pathology - October 25, 2019 Category: Neurology Source Type: research
Ventricle-predominant primary CNS lymphomas: clinical, radiological and pathological evaluation of five cases and review of the literature
AbstractPrimary central nervous system lymphomas (PCNSLs) are typically intraparenchymal. A subset of PCNSLs predominantly arises in the ventricles, with minimal parenchymal involvement. We review the clinical, radiological, and pathological features of ventricle-predominant PCNSLs (VP-PCNSLs) in 40 previously reported cases and report 5 additional cases. Including all cases of VP-PCNSLs (n = 45), 38% were diffuse large B-cell lymphomas (DLBCL), 11% were Burkitt lymphomas, 7% were MALT lymphomas, 4% were T-cell lymphomas, and 40% were lymphomas, not otherwise classified. VP-PCNSLs show rapid clinical progression. Patie...
Source: Brain Tumor Pathology - October 18, 2019 Category: Neurology Source Type: research
Reviewers in 2019
(Source: Brain Tumor Pathology)
Source: Brain Tumor Pathology - September 11, 2019 Category: Neurology Source Type: research
Two cases of primary supratentorial intracranial rhabdomyosarcoma with DICER1 mutation which may belong to a “spindle cell sarcoma with rhabdomyosarcoma-like feature, DICER1 mutant”
AbstractRhabdomyosarcoma is the most common soft-tissue sarcoma affecting children and adolescents. It is defined as a malignant neoplasm characterized by morphologic, immunohistochemical, ultrastructural, or molecular genetic evidence of primary skeletal muscle differentiation, usually in the absence of any other pattern of differentiation. Primary intracranial rhabdomyosarcoma (PIRMS) is an extremely rare neoplasm, with only 60 cases reported in the literature, and generally has poor prognosis with an overall survival of only 9.1 months. TheDICER1 gene encodes an RNA endoribonuclease that plays a key role in gene expre...
Source: Brain Tumor Pathology - September 4, 2019 Category: Neurology Source Type: research
First autopsy analysis of the efficacy of intra-operative additional photodynamic therapy for patients with glioblastoma
AbstractThe study aim to demonstrate the therapeutic tissue depth of photodynamic therapy (PDT) using the photosensitizer talaporfin sodium and semiconductor laser for malignant glioma from an autopsy finding. Three patients diagnosed with glioblastoma by pre-operative imaging (1 newly diagnosed patient and 2 patients with recurrence) were treated with intra-operative additional PDT and adjuvant therapy such as post-operative radiotherapy or chemotherapy. All three patients died of brain stem dysfunction owing to cerebrospinal fluid dissemination or direct invasion of the tumor cells from 13, 18, or 20 months after PDT. ...
Source: Brain Tumor Pathology - September 4, 2019 Category: Neurology Source Type: research
