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 common genetic event in the tumorigenesis in this group of patients. We illustrate an interesting case of multifocal IDH-mutant astrocytomas in an OD patient with 8 years of follow-up. We first demonstrated identical IDH mutations in the brain tumor samples from various locations in this patient, but different 1p,19q results by fluorescent in-situ hybridization, different whole genome copy number profiles by OncoScan analysis, and a discrepant IDH2M131I mutation unique to one tumor, supporting a multifocal disease process in the setting of somatic IDH mosaicism.
journal_name
Brain Tumor Patholjournal_title
Brain tumor pathologyauthors
Tan CL,Vellayappan B,Wu B,Yeo TT,McLendon REdoi
10.1007/s10014-018-0327-ysubject
Has Abstractpub_date
2018-10-01 00:00:00pages
202-208issue
4eissn
1433-7398issn
1861-387Xpii
10.1007/s10014-018-0327-yjournal_volume
35pub_type
杂志文章,评审abstract::We observed the histopathological and physiological characteristics of adrenocorticotropic hormone (ACTH)-secreting adenoma cells derived from a rapidly growing pituitary adenoma, which have firm cell attachment and well-preserved hormonal function in a relatively longterm culture. Corticotrophs, obtained from a 43-ye...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/BF02484284
更新日期:2000-01-01 00:00:00
abstract::Candidate genes involved in metastasis to the brain require investigation. In the present study, the adenomatous polyposis coli (APC) gene was analyzed in a set of human brain metastases. Gross deletions of the APC gene were tested by polymerase chain reaction/loss of heterozygosity (LOH) using the restriction fragmen...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-011-0030-8
更新日期:2011-07-01 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::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::Small cell glioblastoma is a histological subtype of glioblastoma with characteristic features of highly proliferative, monotonous small glial cells with high nuclear cytoplasm ratio. Morphologically, malignant lymphoma or small cell metastatic carcinoma should be carefully discriminated. Some cases are difficult to d...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-013-0158-9
更新日期:2014-04-01 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::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::Investigations on the NAB2-STAT6 fusion gene in solitary fibrous tumors (SFTs) and hemangiopericytomas (HPCs) have increased since its discovery in 2013. Although several SFTs reported without NAB2-STAT6 fusion gene analysis, we reviewed 546 SFTs/HPCs with NAB2-STAT6 fusion gene analysis in this study and investigated...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-016-0264-6
更新日期:2016-07-01 00:00:00
abstract::To identify differentially expressed genes involved in rat C6 glioma cell differentiation induced by cyclic AMP, we adopted mRNA fingerprinting using arbitrarily primed polymerase chain reaction (PCR) (RAP). Four complementary DNA (cDNA) fragments differentially expressed during differentiation were isolated, and they...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/BF02478880
更新日期:1997-01-01 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::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::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::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::Diffuse leptomeningeal glioneuronal tumor (DL-GNT) is a newly introduced tumor entity of uncertain prognosis characterised by a primary diffuse leptomeningeal growth pattern, oligodendroglial-like morphology and dual glial/neuronal differentiation. Predominantly occurring in children, these tumors present as chronic m...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-018-0325-0
更新日期:2018-07-01 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::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::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::The clinical and histological characteristics of oligodendroglioma and oligoastrocytoma were investigated in patients, mainly adults with supratentorial tumors, who were treated with surgery and radiotherapy, and with chemotherapy for recurrent, anaplastic tumors, or both. The median survival time was 13.2 years for o...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/BF02478866
更新日期:1997-01-01 00:00:00
abstract::Intraoperative rapid diagnosis has been a useful neurosurgery tool for maximal resection and minimal morbidity. However, only a few studies have been conducted regarding diagnostic accuracy and associated problems. The present study reviews our experience in treating patients and investigates the accuracy and problems...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-007-0219-z
更新日期:2007-01-01 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::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::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::We investigated stereotactic intratumoral microinfusion of nimustine (ACNU) in recurrent brain tumors. Eligibility required histologic confirmation of glioma recurrence despite standard radiotherapy and chemotherapy as well as enhancement of the recurrence with gadolinium on magnetic resonance imaging (MRI). A total i...
journal_title:Brain tumor pathology
pub_type: 临床试验,杂志文章
doi:10.1007/BF02478921
更新日期:2001-01-01 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::An 18-year-old girl presented with a history of visual disturbance without headache, nausea, or vomiting in May 2010. In July 2010, the patient visited our hospital because of visual disturbance. Head magnetic resonance images revealed hydrocephalus caused by a ring-enhancing mass lesion located in the vermis. Total ...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/s10014-011-0074-9
更新日期:2012-04-01 00:00:00
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. Additi...
journal_title:Brain tumor pathology
pub_type: 杂志文章,评审
doi:10.1007/s10014-017-0283-y
更新日期:2017-04-01 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::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::The matrix metalloproteinase (MMP) family members catalyze extracellular proteolysis. Recent reports have suggested that expression of MMP-2 and -9 might play a critical role in neoplastic tissue invasion or metastasis. In this study, the relationship between the expression of MMP-2 and -9 and the histological feature...
journal_title:Brain tumor pathology
pub_type: 杂志文章
doi:10.1007/BF02482184
更新日期:2004-01-01 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