Abstract:
:Chordomas and chondrosarcomas are two major malignant bone neoplasms located at the skull base. These tumors are rarely metastatic, but can be locally invasive and resistant to conventional chemotherapies and radiotherapies. Accordingly, therapeutic approaches for the treatment of these tumors can be difficult. Additionally, their location at the skull base makes them problematic. Although accurate diagnosis of these tumors is important because of their distinct prognoses, distinguishing between these tumor types is difficult due to overlapping radiological and histopathological findings. However, recent accumulation of molecular and genetic studies, including extracranial location analysis, has provided us clues for accurate diagnosis. In this report, we review the genetic aberrations and molecular biology of these two tumor types. Among the abundant genetic features of these tumors, brachyury immunohistochemistry and direct sequencing of IDH1/2 are simple and useful techniques that can be used to distinguish between these tumors. Although it is still unclear why these tumors, which have such distinct genetic backgrounds, show similar histopathological findings, comparison of their genetic backgrounds could provide essential information.
journal_name
Brain Tumor Patholjournal_title
Brain tumor pathologyauthors
Kitamura Y,Sasaki H,Yoshida Kdoi
10.1007/s10014-017-0283-ysubject
Has Abstractpub_date
2017-04-01 00:00:00pages
78-90issue
2eissn
1433-7398issn
1861-387Xpii
10.1007/s10014-017-0283-yjournal_volume
34pub_type
杂志文章,评审abstract::Medulloblastomas with myogenic differentiation, previously termed medullomyoblastomas, form rare variants of medulloblastomas. Occasional tumors showing combined myogenic differentiation and melanotic tubular structures have also been described. On studying the records of a tertiary-care super specialty hospital, of 8...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-012-0102-4
更新日期:2013-01-01 00:00:00
abstract::The role of intraoperative pathological diagnosis for central nervous system (CNS) tumors is crucial for neurosurgery when determining the surgical procedure. Especially, treatment of carmustine (BCNU) wafers requires a conclusive diagnosis of high-grade glioma proven by intraoperative diagnosis. Recently, we demonstr...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-015-0238-0
更新日期:2016-01-01 00:00:00
abstract::The incidence of hemorrhagic onset in pilocytic astrocytoma and pilomyxoid astrocytoma, and the clinical and histological characteristics, were compared to other types of neuroepithelial tumors or nonhemorrhagic pilocytic astrocytoma by retrospective review of 445 consecutive neuroepithelial tumors treated at our inst...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-008-0243-7
更新日期:2009-01-01 00:00:00
abstract::The aim of our study was to clarify the expression and gene copy number levels of protein phosphatase 1D magnesium-dependent, delta isoform (PPM1D), which is thought to be a regulator of the p53 protein in meningiomas of all three different WHO grades. Genomic DNA and mRNA were extracted from frozen tissues of meningi...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-016-0252-x
更新日期:2016-07-01 00:00:00
abstract::Wilms' tumour-1 (WT-1) protein m-RNA was recently demonstrated in meningiomas, suggesting the potential application of WT-1 immunotherapy in these tumours. The aim of the present study was to analyze the immunohistochemical expression of WT-1 protein, its correlation with the clinico-pathological variables and associa...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-015-0217-5
更新日期:2015-07-01 00:00:00
abstract::Glioblastoma with a primitive neuronal component (GBM-PN) was renamed from glioblastoma with primitive neuroectodermal tumor-like component (GBM-PNET) in the new WHO classification of tumors of the central nervous system in 2016. GBM-PN is a rare variant of glioblastoma. There were not so many publications on the inve...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-019-00334-1
更新日期:2019-07-01 00:00:00
abstract::Somatic mutations in NRAS, PTEN and AKT1 genes are rarely (~1%) reported in primary NSCLC, but their role in carcinogenesis have been proven. Therefore, we assessed the frequency of them in 145 FFPE tissue samples from CNS metastases of NSCLC using the real-time PCR technique. We identified four (two NRAS and single A...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-016-0276-2
更新日期:2017-01-01 00:00:00
abstract::Dysembryoplastic neuroepithelial tumor (DNT) is a relatively new nosologic entity. First described in 1988, it is now included in the "neuronal and mixed neuronal-glial tumours" category in the revised 2000 World Health Organization (WHO) Classification of Tumours of the Nervous System. The collective experience of mo...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/BF02478934
更新日期:2002-01-01 00:00:00
abstract::A 53-year-old woman was found to have a tumor in the pineal region. Histologically, Homer-Wright rosettes were sporadically distributed in a diffuse proliferation of round tumor cells that were immunoreactive for synaptophysin and chromogranin. A few perivascular pseudorosettes were also present, and the perivascular ...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/BF02478945
更新日期:2003-01-01 00:00:00
abstract::With the use of RT-PCR (reverse transcriptase-polymerase chain reaction), Northern blot analysis, and Western blot analysis, seven primary brain lymphomas were examined for the state of the MMACI tumor suppressor gene. Nucleotide analysis of RT-PCR clones revealed no abnormality in the MMAC1 coding sequence in each ca...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/BF02479427
更新日期:2001-01-01 00:00:00
abstract::Low-density lipoprotein receptor-related protein/alpha 2-macroglobulin receptor (LRP) has been proposed to mediate the cellular uptake and clearance of inactivated protease-inhibitor complexes in regulating proteinase activity at the cell surface, which is necessary for cellular migration and invasive processes. In th...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/BF02482097
更新日期:1998-01-01 00:00:00
abstract::Although tissue confirmation is essential for a diagnosis of primary central nervous system large B-cell lymphoma (PCNSBL), accurate assessment may still be difficult, even when tissue is obtained. We report a 59-year-old man, first diagnosed as multiple sclerosis by open biopsy at another institution, who was then co...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-010-0264-x
更新日期:2010-04-01 00:00:00
abstract::Papillary tumor of the pineal region (PTPR) was recently added to the 2007 WHO classification of tumors of the central nervous system as a rare pineal tumor. We present a case of a 17-year-old man who developed a 3-cm pineal tumor that was incompletely excised following two operations. The pathological findings presen...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-009-0246-z
更新日期:2009-01-01 00:00:00
abstract::Accumulating evidence suggests that tissue hypoxia and apoptosis play important roles in the malignant progression of brain tumors. We investigated the relationship of 14-3-3zeta (an apoptosis-related protein), HIF-1α, and VEGF immunohistochemistry, and evaluated the prognostic value of their expression in human brain...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-013-0135-3
更新日期:2014-01-01 00:00:00
abstract::Lymphocytic infundibulo-neurohypophysitis (LINH) was first reported by Saito et al. and Imura et al. as a cause of idiopathic central diabetes insipidus. Magnetic resonance (MR) imaging with a contrast medium demonstrates thickening of the pituitary stalk, enlargement of the neurohypophysis, or both with homogeneous e...
journal_title:Brain tumor pathology
pub_type: 杂志文章,评审
doi:10.1007/s10014-008-0234-8
更新日期:2008-01-01 00:00:00
abstract::We describe a case of dural angioleiomyoma (ALM) of the middle cranial fossa. A 62-year-old man was referred to our center for fracture of the left clavicle because of a fall, and he had a sudden seizure during admission. The mass was completely resected. The tumor base was located at the bottom of the temporal lobe i...
journal_title:Brain tumor pathology
pub_type: 杂志文章,评审
doi:10.1007/s10014-012-0115-z
更新日期:2013-04-01 00:00:00
abstract::A 43-year-old woman who had undergone breast cancer surgery 1 year previously complained of headache and nausea. Her brain computed tomography (CT) scan and magnetic resonance imaging (MRI) showed a well-circumscribed, heterogeneously enhanced tumor in the right thalamus. She underwent gross total resection of the tum...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-005-0173-6
更新日期:2005-01-01 00:00:00
abstract::Atypical teratoid/rhabdoid tumor (AT/RT), a recently established central nervous system tumor entity, occurs in children and is more malignant than medulloblastoma/primitive neuroectodermal tumors (PNET). We report here a case of AT/RT in a male infant who was 9 months old at the time of diagnosis. Magnetic resonance ...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/BF02483446
更新日期:2003-01-01 00:00:00
abstract::Recent studies on gliomas have shown frequent alterations in the alpha-thalassemia/mental retardation syndrome X-linked gene (ATRX). This study was designed to determine whether ATRX status correlates with uptake of 11C-methionine in WHO grades II and III gliomas. Sixty-two patients underwent 11C-methionine positron e...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-017-0280-1
更新日期:2017-01-01 00:00:00
abstract::Ollier disease (OD) and Maffucci syndrome are rare conditions due to a post-zygotic somatic mutation that results in mosaicism. In addition to enchondromas and hemangiomas, some of these patients also develop other unrelated tumors, such as gliomas, that harbor IDH mutations, suggesting that an IDH mutation is a commo...
journal_title:Brain tumor pathology
pub_type: 杂志文章,评审
doi:10.1007/s10014-018-0327-y
更新日期:2018-10-01 00:00:00
abstract::We report four cases of high-grade astrocytoma with a BRAF V600E mutation, ATRX inactivation, and CDKN2A/B homozygous deletion. Children to young adults aged 3-46 presented with a well demarcated contrast-enhancing mass in the supratentorial area. Pathological examination revealed packed growth of short spindle to rou...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-019-00344-z
更新日期:2019-07-01 00:00:00
abstract::We report an unusual case of extraventricular (cerebral) neurocytoma with a long, 25-year history, and which appeared to transform to neuroblastoma. In 1978, an 18-year-old woman was treated for right frontal oligodendroglioma. Eighteen years later (in 1996), recurrence of tumor in the fourth ventricle was noted and w...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-006-0210-0
更新日期:2007-01-01 00:00:00
abstract::Congenital malignant gliomas are rare brain tumors about which few reports have been published. We present the clinical course and genetic alterations in an infant with a congenital malignant glioma detected incidentally by ultrasonography at 36 weeks. The tumor occupied the right temporoparietal region, extended to t...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-011-0071-z
更新日期:2012-04-01 00:00:00
abstract::There is now compelling evidence that gliomas harbor a small population of cells, termed glioma-initiating cells (GICs), characterized by their ability to undergo self-renewal and initiate tumorigenesis. The development of therapeutic strategies targeted toward GIC signaling may improve the treatment of malignant glio...
journal_title:Brain tumor pathology
pub_type: 杂志文章,评审
doi:10.1007/s10014-010-0011-3
更新日期:2011-02-01 00:00:00
abstract::Although antiangiogenic treatment for malignant glioma using bevacizumab in combination with irinotecan chemotherapy has a promising effect on survival, the high incidence of increasing infiltrative tumors can be a problem in resistance to antiangiogenic therapy. In this study, we detected failure of bevacizumab treat...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-010-0271-y
更新日期:2010-10-01 00:00:00
abstract::Papillary tumor of the pineal region (PTPR) is a recently described neoplasm. Several studies have been published on this tumor, but its pathological features and the appropriate treatment remain unclear. PTPR is reported to originate from ependymal cells in the subcommissural organ. Isocitrate dehydrogenase 1 and 2 (...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-012-0098-9
更新日期:2013-01-01 00:00:00
abstract::Diffuse gliomas are highly infiltrative intracranial tumors, but there are few useful markers for detecting infiltrating glioma cells in the surrounding brain tissue. Doublecortin (DCX) is a microtubule-associated protein (MAP) that plays a crucial role in neuroblast migration. It was recently demonstrated that DCX is...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-007-0225-1
更新日期:2008-01-01 00:00:00
abstract::The present retrospective data analysis was performed to determine whether intraoperative pathological diagnosis (IOD) using frozen section (FS) could clearly distinguish high-grade glioma from WHO grade II gliomas. IOD was retrospectively compared to the pathological diagnosis using permanent paraffin sections (PS) o...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-014-0177-1
更新日期:2014-07-01 00:00:00
abstract::Despite recent advances in the diagnosis and treatment of glioblastomas, patient outcomes for these highly malignant tumors remain poor. Research into the molecular pathology of glioblastoma has uncovered various genetic changes that contribute to malignancy. Some of the identified molecular markers--such as loss of h...
journal_title:Brain tumor pathology
pub_type: 杂志文章,评审
doi:10.1007/s10014-011-0038-0
更新日期:2011-07-01 00:00:00
abstract::Recent reports have suggested an important clinical role for hypermethylation of the O(6)-methylguanine-DNA-methyltransferase (MGMT) promoter in patients with glioblastomas. Whether MGMT protein expression is correlated with promoter hypermethylation and patient outcomes, however, has not been elucidated. Here we desc...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-010-0004-2
更新日期:2011-02-01 00:00:00