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Brain and Spinal Cord Tumours

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Latest Research Publications
Childhood Brain Tumours
Pituitary Tumours
Primary CNS Lymphoma
Acoustic Neuroma
Neuro-oncology (specialty)

Information Patients and the Public (15 links)

Information for Health Professionals / Researchers (24 links)

Latest Research Publications

This list of publications is regularly updated (Source: PubMed).

Lehrer S, Green S, Rosenzweig KE
Lack of Correlation between Benign Brain Tumors and Markers of Oral Health.
N Y State Dent J. 2015; 81(3):41-3 [PubMed] Related Publications
UNLABELLED: Case control studies implicating dental X-rays in the genesis of intracranial meningiomas have yielded conflicting results. To further evaluate what risk, if any, that intracranial meningioma might be associated with dental X-rays, we examined the association of benign brain tumor incidence with the number of dentists and other correlates of oral health in U.S. states and the District of Columbia. We compared these correlations to the association of the same markers of oral health with Alzheimer's death rates. Poor oral health, especially periodontal disease, is a well-established risk factor for dementia.
RESULTS: Pearson correlations, number of cases (49, no data from Kansas or Maryland) and significance (2 tailed p values) of benign brain tumor incidence and parameters of oral health are presented. None of the correlations approached statistical significance. In contrast, Alzheimer's deaths by state were negatively correlated with number of dentists and other markers of oral health.
CONCLUSION: Our finding of a total lack of correlation between benign brain tumors and markers of oral health and, by implication, dental X-rays, suggests there may be no relationship between dental X-rays and meningioma or other benign brain tumors. This conclusion is strengthened by our demonstration of the known negative correlation between Alzheimer's and dental care.

Nassif S, Boulos F
Extranodal (dural) Rosai-Dorfman disease radiologically and histologically mimicking meningioma: a case report.
Anal Quant Cytopathol Histpathol. 2015; 37(2):144-6 [PubMed] Related Publications
BACKGROUND: Rosai-Dorfman disease (sinus histiocytosis with massive lymphadenopathy) is an idiopathic nonneoplastic lymphohistiocytic proliferation with variable clinical presentations, sometimes mimicking other disorders including neoplasm. Particularly, intracranial Rosai-Dorfman disease is rare and without well-established optimal treatment modalities.
CASE: A 42-year-old man presented with gradually progressive unilateral hearing and vision loss over a two-year period. An MRI of the head showed findings consistent with meningiomatosis. He subsequently underwent a dural biopsy, and histologic examination of the lesion showed sheets of histiocytes positivefor CD68 and S-100 and negative for CD1a within a rich lymphoplasmacytic infiltrate. Some of the histiocytes showed emperipolesis of lymphocytes and plasma cells. These findings were consistent with Rosai-Dorfman disease. Interestingly, EMA-positive meningothelial whorls were seen scattered within the dominantly histiocytic-appearing process, mimicking the appearance of meningioma; these whorls were thought to be reactive in nature.
CONCLUSION: This case is important as it high-lights unusual clinical and histopathologic features of Rosai-Dorfman disease, thereby adding to the spectrum of manifestations of this entity. Awareness of such features is helpful in averting the misdiagnosis of intracranial Rosai-Dorfman disease with reactive meningothelial hyperplasia as meningiomas.

Roser F, Tatagiba MS, Ebner FH
Late neurological sequelae due to brainstem irradiation for an assumed glioma.
Acta Neurol Taiwan. 2014; 23(2):55-8 [PubMed] Related Publications
PURPOSE: There is ongoing discussion whether radiotherapy might be beneficial in the treatment of intracranial cavernomas, however long-term sequelae due to brainstem irradiation may exist.
CASE REPORT: The case of a 72-year-old female is reported who received radiotherapy in the pre-MRI era due to a suspected intra-axial pontine lesion. Later on she developed severe trigeminal neuropathy and an MRI was performed 27 years after irradiation of the brainstem. On these images a large cavernous malformation with signs of multiple haemorrhages instead of the pontine glioma was seen accompanied by a substantial atrophy of brainstem structures.
CONCLUSION: This case impressively demonstrates the long-term outcome of brainstem irradiation and reflects that cavernomas do not respond to radiotherapy.

Kong X, Wang Y, Liu S, et al.
Dysphasia and phantosmia as first presentation of multifocal cerebral anaplastic astrocytomas: case report and review of the literatures.
Medicine (Baltimore). 2015; 94(20):e877 [PubMed] Related Publications
Multifocal cerebral gliomas (MCGs) represent approximately 10% of gliomas and are frequently mistaken as metastases of an unknown primary cancer site. Most MCGs are glioblastomas with <4 lesions supratentorially, and are lack of typical symptoms and special detections.Through a rare MCG case, we aim to present this rarity and emphasize the need to correctly diagnose multiple intracranial lesions using a variety of diagnostic modalities to ensure that the patient receives proper treatment.We present a case of multifocal cerebral anaplastic astrocytomas with a total of 8 lesions located in the left frontal lobe and invading the lateral ventricle, presenting with dysphasia and phantosmia. The disease course, including diagnosis and treatment, is presented and analyzed in detail. The pertinent literature is reviewed regarding this uncommon entity.After an initial impression of brain metastasis from lung cancer because of the magnetic resonance imaging (MRI) resemblance and history of chronic bronchitis, we were able to use positron emission tomography (PET) and excisional biopsy to get the final diagnosis. After 10 months, the patient's overall condition deteriorated and succumbed to his disease.MCGs are easy to be misdiagnosed as metastatic diseases. In addition to MRI, PET adds more biochemical and molecular information and is helpful in the differentiation. Although uncommon, if multiple lesions are present in various locations in the hemispheres, MCG should be kept in mind.

Sun H, Du S, Liao G, et al.
Do glioma patients derive any therapeutic benefit from taking a higher cumulative dose of temozolomide regimens?: a meta-analysis.
Medicine (Baltimore). 2015; 94(20):e827 [PubMed] Related Publications
Temozolomide (TMZ) is an oral alkylating agent with established effects on the central nervous system of glioblastoma (GBM) patients. Clinical trials have demonstrated a significant impact on overall survival (OS) with TMZ. Ever since, several TMZ regimens have been designed to improve treatment efficacy by increasing the cumulative dose per cycle. We report a meta-analysis to systematically evaluate different treatment schedules of TMZ in GBM patients.All searches that were conducted in the Cochrane library, Science Direct, and PubMed Databases, and 3 randomized controlled trials (1141 patients) were included. OS and progression-free survival (PFS) were the primary outcomes to be pooled.Unexpectedly, this analysis did not reveal any OS or PFS advantage for the high cumulative dose (HCD) regimen compared with the normal cumulative dose regimen (1141 total patients; hazard ratio [HR] 1.07, 95% CI 0.94-1.22, P = 0.31). Then after analyzing the characteristics of the results from each trial, we found that the regimen with a higher peak concentration during a short-term period (daily doses ≥150 mg/m/d within ≤7 days/cycle) always had a more superior clinical benefit. So we generated a new pooled HR of 1.10 with a 95% CI of 0.96-1.25 (P = 0.17), which prefers the high peak concentration schedule even without a significant difference. The adverse outcome also indicates a significant increased risk of leukopenia (risk ratio 1.59, 95% CI 1.03-2.46, P = 0.04) among the HCD group.Our study suggests that increasing the cumulative dose per cycle is not an ideal way to improve the efficacy of TMZ, and it will lead to increased risk for leukopenia. Future trials should be designed to examine schedules of higher peak concentration rather than the cumulative dose per cycle.

Zhang L, Zhao D
Applications of nanoparticles for brain cancer imaging and therapy.
J Biomed Nanotechnol. 2014; 10(9):1713-31 [PubMed] Related Publications
The most common types of malignant brain tumors in adults are brain metastasis and primary glioblastoma multiforme (GBM), both of which are highly lethal, with a median survival of less than a year. A critical challenge in treating brain tumors is the delivery of drugs to the central nervous system (CNS). The blood brain barrier (BBB), which has been shown to be partially disruptive even in the late stage of these brain tumors, prevents the access of therapeutic concentrations of systemic drugs to the tumor in brain parenchyma. Nanoparticle systems can represent optimal carriers for delivery of therapeutic agents. We will summarize various strategies used to improve nano-delivery of imaging contrast or therapeutic agents across BBB to brain tumors. Recent advances in molecular and cellular identifications of neurooncological biomarkers promise the advent of nanotechnology-based brain tumor-targeted detection and therapy. In this review, we will further discuss the current understanding of brain tumor biology and tumor type-specific genetic and epigenetic alterations, and advances in development of the novel nanoparticles for brain tumor imaging and therapy.

Lien RJ, Corcuera-Solano I, Pawha PS, et al.
Three-Tesla imaging of the pituitary and parasellar region: T1-weighted 3-dimensional fast spin echo cube outperforms conventional 2-dimensional magnetic resonance imaging.
J Comput Assist Tomogr. 2015 May-Jun; 39(3):329-33 [PubMed] Related Publications
OBJECTIVE: We explored how a novel T1-weighted 3-dimensional (3D) fast spin echo (FSE) sequence (Cube; GE, Waukesha, Wis) might outperform conventional 2-dimensional (2D) FSE techniques for contrast-enhanced imaging of the pituitary and parasellar region.
METHODS: Ninety-one patients were imaged with 3D Cube and conventional 2D FSE on a 3.0-T magnetic resonance scanner. Two neuroradiologists independently assessed images for anatomical delineation (infundibulum, optic apparatus, and cavernous sinus), degree of artifact, and confidence in lesion definition or exclusion using a 5-point scale. In addition, the readers were asked to rank overall preference.
RESULTS: Readers A and B found 3D Cube to be better or equal to 2D FSE in 84% and 86% of the cases. Three-dimensional Cube provided significantly better images than 2D FSE with respect to delineation of the infundibulum (P < 0.0001), cavernous sinus (P < 0.0001), optic apparatus (P = 0.002 for reader A and P = 0.265 for reader B), and fewer artifacts at the sellar floor (P < 0.0001). Three-dimensional Cube provided greater lesion conspicuity or confidence in lesion exclusion (P < 0.0001).
CONCLUSIONS: Three-dimensional Cube provides superior quality with thinner slices as well as diminished artifact and can replace conventional 2D FSE sequences for routine evaluations of the pituitary and parasellar region.

Lipp ES, Clark AC, McLendon RE
Consultative issues in surgical neuropathology: a retrospective review of the rationale for submitting cases for expert review.
Am J Clin Pathol. 2015; 143(6):807-11 [PubMed] Related Publications
OBJECTIVES: Second opinions on neuropathology cases are sought for a variety of reasons. We investigated the rationales for seeking expert neuropathologic review.
METHODS: A retrospective review was done of the correspondence accompanying neuropathology cases submitted over a 5-year period. The review used a taxonomy of referral reasons, the submitting diagnoses, and requests for ancillary tests.
RESULTS: In total, 508 adult cases were submitted, including glioblastoma (n = 94), anaplastic astrocytoma (n = 49), low-grade glioma (n = 49), oligodendroglioma (n = 48), and pituitary adenoma (n = 12). Thirty-nine cases submitted requested ancillary testing. A taxonomy of four categories revealed the following: preliminary diagnosis (n = 228 cases) was the most common reason for requesting review, followed by no diagnosis rendered (n = 183 cases), second opinion (n = 53), and confirmation/quality assurance (n = 43); the remaining case was "other." Overall, 456 cases were submitted by pathologists, 40 by clinicians and 12 by patients.
CONCLUSIONS: Pathologists who predominately submit cases with a preliminary diagnosis rendered seek expert consultation while clinicians seek a second opinion.

Pajtler KW, Witt H, Sill M, et al.
Molecular Classification of Ependymal Tumors across All CNS Compartments, Histopathological Grades, and Age Groups.
Cancer Cell. 2015; 27(5):728-43 [PubMed] Related Publications
Ependymal tumors across age groups are currently classified and graded solely by histopathology. It is, however, commonly accepted that this classification scheme has limited clinical utility based on its lack of reproducibility in predicting patients' outcome. We aimed at establishing a uniform molecular classification using DNA methylation profiling. Nine molecular subgroups were identified in a large cohort of 500 tumors, 3 in each anatomical compartment of the CNS, spine, posterior fossa, supratentorial. Two supratentorial subgroups are characterized by prototypic fusion genes involving RELA and YAP1, respectively. Regarding clinical associations, the molecular classification proposed herein outperforms the current histopathological classification and thus might serve as a basis for the next World Health Organization classification of CNS tumors.

Tong Y, Merino D, Nimmervoll B, et al.
Cross-Species Genomics Identifies TAF12, NFYC, and RAD54L as Choroid Plexus Carcinoma Oncogenes.
Cancer Cell. 2015; 27(5):712-27 [PubMed] Article available free on PMC after 11/05/2016 Related Publications
Choroid plexus carcinomas (CPCs) are poorly understood and frequently lethal brain tumors with few treatment options. Using a mouse model of the disease and a large cohort of human CPCs, we performed a cross-species, genome-wide search for oncogenes within syntenic regions of chromosome gain. TAF12, NFYC, and RAD54L co-located on human chromosome 1p32-35.3 and mouse chromosome 4qD1-D3 were identified as oncogenes that are gained in tumors in both species and required for disease initiation and progression. TAF12 and NFYC are transcription factors that regulate the epigenome, whereas RAD54L plays a central role in DNA repair. Our data identify a group of concurrently gained oncogenes that cooperate in the formation of CPC and reveal potential avenues for therapy.

Archer TC, Pomeroy SL
Defining the molecular landscape of ependymomas.
Cancer Cell. 2015; 27(5):613-5 [PubMed] Related Publications
Ependymomas have a variable prognosis. In this issue of Cancer Cell, Pajtler and colleagues identify nine subgroups of ependymoma using DNA methylation profiles. Two subgroups, predominately pediatric, are responsible for most of the mortality, with all others having nearly 100% overall survival after 5 years.

Di Giacomo AM, Margolin K
Immune checkpoint blockade in patients with melanoma metastatic to the brain.
Semin Oncol. 2015; 42(3):459-65 [PubMed] Related Publications
Metastatic disease to the brain is a frequent manifestation of melanoma and is associated with a very poor outcome. Systemic therapy with cytotoxic chemotherapy provide only a minimal benefit, while surgery and radiotherapy provide in some patients local control but they less frequently affect the overall outcome of melanoma brain metastases (MBM). The advent of active systemic drugs has revolutioned the care of metastatic melanoma, but this benefit has not been translated into intracranial activity. However, since 2010 the anti-CTLA-4 antibody ipilimumab and the BRAF inhibitors, dabrafenib and vemurafenib, have demonstrated initial signs of efficacy in active brain metastases. This chapter reviews the available data and rationale for ongoing and future trials of immune checkpoint-based combination therapy.

Griffith B, Jain R
Perfusion imaging in neuro-oncology: basic techniques and clinical applications.
Radiol Clin North Am. 2015; 53(3):497-511 [PubMed] Related Publications
Perfusion imaging is a method for assessing the flow of blood occurring at the tissue level and can be accomplished by both CT and MR perfusion techniques. The use of perfusion imaging has increased substantially in the past decade, particularly in neuro-oncologic imaging, where it is has been used for brain tumor grading and directing biopsies or targeted therapy, as well as for the evaluation of treatment response and disease progression. This article discusses the basic principles and techniques of perfusion imaging, as well as its applications in neuro-oncology.

Ba JL, Jandial R, Nesbit A, et al.
Current and emerging treatments for brain metastases.
Oncology (Williston Park). 2015; 29(4):250-7 [PubMed] Related Publications
Brain metastasis in patients with cancer can be indicative of multisystem spread or lead to neurological demise if not locally controlled, and is associated with poor survival and high morbidity. Compared with metastasis to other areas of the body, brain metastasis possesses a unique biology that confers high resistance to systemic therapies. This phenomenon has been historically attributed to the inability of chemotherapeutic agents to pass through the blood-brain barrier. Recent studies challenge this premise, revealing other potentially targetable mechanism(s). Therapies that exploit recent advances in the understanding of brain metastasis are still in early stages of development. Encouragingly, and discovered by happenstance, some molecularly targeted drugs already appear to have efficacy against certain tumors and accompanying cerebral edema. In the meantime, conventional treatment modalities such as surgery and radiation have iteratively reached new levels of refinement. However, these achievements are somewhat muted by the emergence of magnetic resonance (MR)-guided laser interstitial thermal therapy, a minimally invasive neuroablative technique. On the horizon, MR-guided focused ultrasound surgery is similarly intriguing. Even in the absence of further advances, local control is frequently achieved with state-of-the-art therapies. Dramatic improvements will likely require sophisticated approaches that account for the particular effects of the microenvironment of the central nervous system on metastasis.

Doron O, Carmon E
An incidental suprasellar mass in a military flying cadet: implications for aircrew.
Aerosp Med Hum Perform. 2015; 86(5):477-80 [PubMed] Related Publications
BACKGROUND: Incidental findings pose a dilemma in aviation medicine, where every finding must be carefully considered in order to ensure the well-being of the aircrew for flight and mission safety. Since suprasellar masses are not uncommon, their possible effects should be addressed.
CASE REPORT: We present an incidental finding of 11.5 mm × 14.4 mm, hyper-intense on T2 and iso-intense on T1-weighted images, of a suprasellar mass in a 19-yr-old man. This finding led to the re-evaluation of his position as a military flight cadet, followed by his later disqualification.
DISCUSSION: No medical waiver regarding asymptomatic suprasellar mass exists. We have carefully examined the differential diagnosis and generated a profile for each possible diagnosis consisting of risks for sudden incapacitation, progression likelihood, and the effect of an aerial environment on a brain lesion. We were able to draw up a medical waiver for some of the possible diagnoses (namely, Rathke's cyst or craniopharyngioma) for nonhigh performance aircraft.

Netravathi M, Kumari R, Kapoor S, et al.
Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.
BMC Med Genet. 2015; 16:5 [PubMed] Article available free on PMC after 11/05/2016 Related Publications
BACKGROUND: Coats plus syndrome is an autosomal recessive, pleiotropic, multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is caused by compound heterozygous mutations in the CTC1 gene.
CASE PRESENTATION: We encountered a case of an eight-year old boy from an Indian family with manifestations of Coats plus syndrome along with an unusual occurrence of dextrocardia and situs inversus. Targeted resequencing of the CTC1 gene as well as whole exome sequencing (WES) were conducted in this family to identify the causal variations. The identified candidate variations were screened in ethnicity matched healthy controls. The effect of CTC1 variation on telomere length was assessed using Southern blot. A novel homozygous missense mutation c.1451A > C (p.H484P) in exon 9 of the CTC1 gene and a rare 3'UTR known dbSNP variation (c.*556 T > C) in HES7 were identified as the plausible candidates associated with this complex phenotype of Coats plus and dextrocardia. This CTC1 variation was absent in the controls and we also observed a reduced telomere length in the affected individual's DNA, suggesting its likely pathogenic nature. The reported p.H484P mutation is located in the N-terminal 700 amino acid regionthat is important for the binding of CTC1 to ssDNA through its two OB domains. WES data also showed a rare homozygous missense variation in the TEK gene in the affected individual. Both HES7 and TEK are targets of the Notch signaling pathway.
CONCLUSIONS: This is the first report of a genetically confirmed case of Coats plus syndrome from India. By means of WES, the genetic variations in this family with unique and rare complex phenotype could be traced effectively. We speculate the important role of Notch signaling in this complex phenotypic presentation of Coats plus syndrome and dextrocardia. The present finding will be useful for genetic diagnosis and carrier detection in the family and for other patients with similar disease manifestations.

Kawamura T, Hata A, Takeshita J, et al.
High-dose erlotinib for refractory leptomeningeal metastases after failure of standard-dose EGFR-TKIs.
Cancer Chemother Pharmacol. 2015; 75(6):1261-6 [PubMed] Related Publications
BACKGROUND: After initial response to epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs), approximately one-third of patients develop central nervous system (CNS) metastases, including leptomeningeal metastases (LM). To achieve longer survival, control of CNS metastases is important, but therapeutic options are limited for LM after failure of standard-dose EGFR-TKIs.
METHODS: We retrospectively evaluated the efficacy and safety of high-dose erlotinib in EGFR-mutant non-small cell lung cancer (NSCLC) patients with refractory LM after failure of standard-dose EGFR-TKIs. Survivals from diagnosis of LM to death were compared in patients with or without high-dose erlotinib.
RESULTS: Between January 2007 and April 2013, we identified 35 patients with EGFR-mutant NSCLC, complicated with LM, and 12 underwent high-dose erlotinib, while the other 23 received only standard-dose EGFR-TKIs. In patients receiving high-dose erlotinib, magnetic resonance imaging response was confirmed in 3 (30 %) of 10 evaluable patients. Median time to CNS progression was 2.3 months (95 % confidence interval [CI] 1.8-5.5 months). Performance status and neurological symptoms improved in 4 (33 %) of 12 and 6 (50 %) of 12 patients, respectively. No severe adverse events (≥grade 3) associated with high-dose erlotinib were observed. Median survival time from diagnosis of LM in patients with high-dose erlotinib was 6.2 months (95 % CI 2.5-8.5 months), and in those without 5.9 months (95 % CI 1.3-7.8 months) (p = 0.94).
CONCLUSION: High-dose erlotinib suggested its efficacy and safety in some patients with refractory LM. It represents a potential therapeutic option against LM after failure of standard-dose EGFR-TKIs, especially to palliate LM-related neurological symptoms.

Cimino PJ, Bredemeyer A, Abel HJ, Duncavage EJ
A wide spectrum of EGFR mutations in glioblastoma is detected by a single clinical oncology targeted next-generation sequencing panel.
Exp Mol Pathol. 2015; 98(3):568-73 [PubMed] Related Publications
With the advent of large-scale genomic analysis, the genetic landscape of glioblastoma (GBM) has become more clear, including characteristic genetic alterations in EGFR. In routine clinical practice, genetic alterations in GBMs are identified using several disparate techniques that consume already limited amounts of tissue and add to overall testing costs. In this study, we sought to determine if the full spectrum of EGFR mutations in GBMs could be detected using a single next generation sequencing (NGS) based oncology assay in 34 consecutive cases. Using a battery of informatics tools to identify single nucleotide variants, insertions and deletions, and amplification (including variants EGFRvIII and EGFRvV), twenty-one of the 34 (62%) individuals had at least one alteration in EGFR by sequencing, consistent with published datasets. Mutations detected include several single nucleotide variants, amplification (confirmed by fluorescence in situ hybridization), and the variants EGFRvIII and EGFRvV (confirmed by multiplex ligation-dependent probe amplification). Here we show that a single NGS assay can identify the full spectrum of relevant EGFR mutations. Overall, sequencing based diagnostics have the potential to maximize the amount of genetic information obtained from GBMs and simultaneously reduce the total time, required specimen material, and costs associated with current multimodality studies.

Tsai WC, Hueng DY, Lin CK
Nuclear overexpression of urocortin discriminates primary brain tumors from reactive gliosis.
APMIS. 2015; 123(6):465-72 [PubMed] Related Publications
The role of urocortin (UCN) is still ambiguous in human cancers. We tested the hypothesis that using UCN expression discriminates reactive gliosis from primary brain tumors (PBTs). Immunohistochemical analysis of UCN was performed in six reactive gliosis and 99 PBTs. The immunostain scores of UCN were calculated as the degree of intensity multiplied by the percentage of expressed tumor cells. Nuclear staining of UCN revealed weak intensity and small portion of positively stained cells in reactive gliosis. However, comparing with non-neoplastic tissues, higher immunostain scores of UCN were identified in each WHO grade of astrocytomas and meningiomas. Finally, neither WHO grade nor overall survival rate did not significantly correlate with UCN expression in astrocytomas and meningiomas. Our findings demonstrate for the first time that the application of UCN might be a novel biomarker for not only discriminating reactive gliosis from PBTs, but also deciding where the clear surgical margin was.

Wang Y, Fan X, Li H, et al.
Tumor border sharpness correlates with HLA-G expression in low-grade gliomas.
J Neuroimmunol. 2015; 282:1-6 [PubMed] Related Publications
Human leukocyte antigen-G (HLA-G) is a tumor microenvironment molecule that is involved in the escape of cancerous tumors from host immune recognition and destruction. This study investigated the potential relationship between HLA-G expression levels and the sharpness of low-grade glioma tumor borders in magnetic resonance images. Preoperative T2-weighted images from 72 patients were retrospectively examined by manually segmenting the hyperintensive tumor areas and subsequently registering them to a standard brain template. Then, the intensity of the voxels inside the tumor border (tumor voxels) was compared with that of the voxels outside the tumor border (paratumor voxels). The radiologic sharpness of a tumor was defined as the mean ratio of the intensity of the tumor voxels to the intensity of the paratumor voxels. Tumors with high HLA-G expression were associated with larger tumors and lower mean hyperintensive contrast. These findings suggest that tumors with blurred boundaries may be those prone to diffuse invasion. Additionally, patients with tumors having high HLA-G expression were less likely to have undergone complete resections. Thus, this study is the first to identify an association between HLA-G expression and the radiologic morphology of the tumor border, and may further our understanding of the role of the HLA gene in immune escape in patients with low-grade gliomas.

Durno CA, Sherman PM, Aronson M, et al.
Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome.
Eur J Cancer. 2015; 51(8):977-83 [PubMed] Related Publications
Lynch syndrome, the most common inherited colorectal cancer syndrome in adults, is an autosomal dominant condition caused by heterozygous germ-line mutations in DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. Inheriting biallelic (homozygous) mutations in any of the MMR genes results in a different clinical syndrome termed biallelic mismatch repair deficiency (BMMR-D) that is characterised by gastrointestinal tumours, skin lesions, brain tumours and haematologic malignancies. This recently described and under-recognised syndrome can present with adenomatous polyps leading to early-onset small bowel and colorectal adenocarcinoma. An important clue in the family history that suggests underling BMMR-D is consanguinity. Interestingly, pedigrees of BMMR-D patients typically show a paucity of Lynch syndrome cancers and most parents are unaffected. Therefore, a family history of cancers is often non-contributory. Detection of BMMR-D can lead to more appropriate genetic counselling and the implementation of targeted surveillance protocols to achieve earlier tumour detection that will allow surgical resection. This review describes an approach for diagnosis and management of these patients and their families.

Lin DC, Xu L, Chen Y, et al.
Genomic and Functional Analysis of the E3 Ligase PARK2 in Glioma.
Cancer Res. 2015; 75(9):1815-27 [PubMed] Article available free on PMC after 01/05/2016 Related Publications
PARK2 (PARKIN) is an E3 ubiquitin ligase whose dysfunction has been associated with the progression of Parkinsonism and human malignancies, and its role in cancer remains to be explored. In this study, we report that PARK2 is frequently deleted and underexpressed in human glioma, and low PARK2 expression is associated with poor survival. Restoration of PARK2 significantly inhibited glioma cell growth both in vitro and in vivo, whereas depletion of PARK2 promoted cell proliferation. PARK2 attenuated both Wnt- and EGF-stimulated pathways through downregulating the intracellular level of β-catenin and EGFR. Notably, PARK2 physically interacted with both β-catenin and EGFR. We further found that PARK2 promoted the ubiquitination of these two proteins in an E3 ligase activity-dependent manner. Finally, inspired by these newly identified tumor-suppressive functions of PARK2, we tested and proved that combination of small-molecule inhibitors targeting both Wnt-β-catenin and EGFR-AKT pathways synergistically impaired glioma cell viability. Together, our findings uncover novel cancer-associated functions of PARK2 and provide a potential therapeutic approach to treat glioma.

Lau SK, Cykowski MD, Desai S, et al.
Primary rhabdomyosarcoma of the pineal gland.
Am J Clin Pathol. 2015; 143(5):728-33 [PubMed] Related Publications
OBJECTIVES: To report a case of primary rhabdomyosarcoma (RMS) of the pineal gland in an adult, as well as review the literature on this rare entity.
METHODS: The case is compared with previous reports of similar entities, with emphasis on this patient's characteristics and clinical presentation, investigations, and management.
RESULTS: Diagnosis of primary RMS of the pineal gland was based on the presence of strap cells and multinucleated myotube-like structures, as well as tumor cell expression of skeletal muscle markers consistent with myogenic differentiation. Multimodality treatment was initiated based on pediatric protocols. Unfortunately, the disease progressed on treatment, and the patient survived only 5 months from diagnosis.
CONCLUSIONS: Pineal RMS is a rare disease with poor prognosis. Optimal management is unknown but likely to involve aggressive multimodality therapy.

Rotim K, Sajko T, Škoro I, et al.
Complete neurological recovery after surgery for mesencephalic cavernoma: case report.
Acta Clin Croat. 2014; 53(4):494-8 [PubMed] Related Publications
Cavernous malformations are classified as a group of vascular malformations of the central nervous system. Conservative treatment of brainstem cavernomas is accompanied with poor outcome. Surgery ofbrainstem cavernomas still poses a challenge due to the high risk of neurological damage and respectable morbidity. We report a case of complete neurological recovery in a 24-year-old female patient with mesencephalic cavernoma treated surgically. This case highlights that careful microsurgical treatment with the goal of complete cavernoma excision remains the treatment of choice in cases with de novo or recurrent hemorrhage. Intraoperative neurophysiologic monitoring should be used as the gold standard during brainstem cavernoma operations in order to avoid nuclear and long tract damages.

Morina A, Kelmendi F, Morina Q, Morina D
Cerebellar dermoid cyst with contrast enhancement mural nodule: case report.
Acta Clin Croat. 2014; 53(4):479-82 [PubMed] Related Publications
Typical dermoid cysts are well-circumscribed fat-density masses with no associated contrast enhancement; rarely, they may appear hyperattenuating on CT scan. CT hyperattenuating dermoid cyst (CHADC) is very uncommon, with only nine case reports in the literature update, which occurs exclusively in the posterior fossa. CHADC with mural nodule is extremely rare and, to the best of our knowledge, only two cases have been documented previously in the literature. A 49-year-old farmer had a 2-month history of occipital headaches, which were not suggestive of raised intracranial pressure. During the last month, he experienced loss of balance, frequent falls, anorexia and loss of weight. Magnetic resonance imaging (MRI) showed a huge mass from the tentorium to the foramen occipitale magnum with obliteration of the fourth ventricle; the lesion was well circumscribed. We completely removed the tumor and postoperative MRI showed no residual tumor. Epidermoid tumors with enhancing mural nodule on MRI and with hyperattenuating lesion on CT are extremely rare. Dermoid cysts are never associated with edema and extremely rarely cause obstructive hydrocephalus. MRI investigations are mandatory to diagnose these cases. The best curative treatment is total removal of the lesion.

Iv M, Telischak N, Feng D, et al.
Clinical applications of iron oxide nanoparticles for magnetic resonance imaging of brain tumors.
Nanomedicine (Lond). 2015; 10(6):993-1018 [PubMed] Related Publications
Current neuroimaging provides detailed anatomic and functional evaluation of brain tumors, allowing for improved diagnostic and prognostic capabilities. Some challenges persist even with today's advanced imaging techniques, including accurate delineation of tumor margins and distinguishing treatment effects from residual or recurrent tumor. Ultrasmall superparamagnetic iron oxide nanoparticles are an emerging tool that can add clinically useful information due to their distinct physiochemical features and biodistribution, while having a good safety profile. Nanoparticles can be used as a platform for theranostic drugs, which have shown great promise for the treatment of CNS malignancies. This review will provide an overview of clinical ultrasmall superparamagnetic iron oxides and how they can be applied to the diagnostic and therapeutic neuro-oncologic setting.

Lin T, Wang M, Liang HS, Liu EZ
The expression of p53, mgmt and egfr in brain glioma and clinical significance.
J Biol Regul Homeost Agents. 2015 Jan-Mar; 29(1):143-9 [PubMed] Related Publications
In order to discuss the expression of P53, MGMT (O6-methylguanine-DNA methyltransferase) and EGFR (epidermal growth factor receptor) in brain glioma and their clinical significance, this paper collected clinical features of 40 patients. We observed the expression of P53, MGMT and EGFR in samples using immuohisto-chemistry assay and analyzed their interaction, as well as their relationship to brain glioma. It was found that among 40 cases of brain glioma samples, cases with positive P53 expression accounted for 47.5%, and its expression in high-grade brain glioma was higher than in low-grade brain glioma (P less than 0.05); cases with positive MGMT expression accounted for 37.5%;, and its expression in high-grade glioma and low-grade brain glioma had no statistical significance (P>0.05); cases with positive EGFR expression accounted for 55%, and its expression in high-grade brain glioma was higher than in low-grade brain glioma (P less than 0.05); the expression of P53, MGMT and EGFT were not correlated to age, gender or size of tumor; P53 expression was negatively correlated to MGMT expression (P < 0.05) but positively correlated to EGFR expression (P < 0.05) demonstration that P53, EGFR and MGMT play important roles in the occurrence and development of brain glioma.

Ladra MM, Mandeville HC, Niemierko A, et al.
Local failure in parameningeal rhabdomyosarcoma correlates with poor response to induction chemotherapy.
Int J Radiat Oncol Biol Phys. 2015; 92(2):358-67 [PubMed] Related Publications
BACKGROUND: Local control remains a challenge in pediatric parameningeal rhabdomyosarcoma (PM-RMS), and survival after local failure (LF) is poor. Identifying patients with a high risk of LF is of great interest to clinicians. In this study, we examined whether tumor response to induction chemotherapy (CT) could predict LF in embryonal PM-RMS.
METHODS: We identified 24 patients with embryonal PM-RMS, age 2 to 18 years, with complete magnetic resonance imaging and gross residual disease after surgical resection. All patients received proton radiation therapy (RT), median dose 50.4 GyRBE (50.4-55.8 GyRBE). Tumor size was measured before initial CT and before RT.
RESULTS: With a median follow-up time of 4.1 years for survivors, LF was seen in 9 patients (37.5%). The median time from the initiation of CT to the start of RT was 4.8 weeks. Patients with LF had a similar initial (pre-CT) tumor volume compared with patients with local controlled (LC) (54 cm(3) vs 43 cm(3), P=.9) but a greater median volume before RT (pre-RT) (40 cm(3) vs 7 cm(3), P=.009) and a smaller median relative percent volume reduction (RPVR) in tumor size (0.4% vs 78%, P<.001). Older age (P=.05), larger pre-RT tumor volume (P=.03), and smaller RPVR (P=.003) were significantly associated with actuarial LF on univariate Cox analysis.
CONCLUSIONS: Poor response to induction CT appears to be associated with an increased risk of LF in pediatric embryonal PM-RMS.

Nadi MM, Nadi AM, Zabara MY, Ahmad TM
Management of infiltrating spinal epidural angiolipoma.
Neurosciences (Riyadh). 2015; 20(2):159-63 [PubMed] Related Publications
Angiolipomas of the spine are rare benign tumors commonly presenting with compressive myelopathy. The present report describes a case of spinal angiolipoma with thoracic mediastinal extension in a 50-year-old woman. She presented with a long-standing history of mid-back pain with progressive lower extremities weakness. An MRI showed a heterogeneously enhancing mass located in the posterior epidural space of the thoracic spine with mediastinal extension. Histopathological examination demonstrated features consistent with spinal angiolipoma. This report emphasizes the diagnosis and therapeutic management options of infiltrating spinal angiolipomas.

Sabbagh AJ, Alaqeel AM
Focal brainstem gliomas. Advances in intra-operative management.
Neurosciences (Riyadh). 2015; 20(2):98-106 [PubMed] Related Publications
Improved neuronavigation guidance as well as intraoperative imaging and neurophysiologic monitoring technologies have enhanced the ability of neurosurgeons to resect focal brainstem gliomas. In contrast, diffuse brainstem gliomas are considered to be inoperable lesions. This article is a continuation of an article that discussed brainstem glioma diagnostics, imaging, and classification. Here, we address open surgical treatment of and approaches to focal, dorsally exophytic, and cervicomedullary brainstem gliomas. Intraoperative neuronavigation, intraoperative neurophysiologic monitoring, as well as intraoperative imaging are discussed as adjunctive measures to help render these procedures safer, more acute, and closer to achieving surgical goals.

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