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2.
Cancers (Basel) ; 16(8)2024 Apr 22.
Artigo em Inglês | MEDLINE | ID: mdl-38672677

RESUMO

PURPOSE: The study aims to examine the possible correlation between genomic alterations and preoperative olfactory function in patients with olfactory groove meningioma (OGM), due to the frequent presence of olfactory impairment. METHODS: We utilised next-generation sequencing to analyse samples from 22 individuals with OGM in order to detect driver mutations. Tumour morphology was assessed using preoperative imaging, whereas olfactory function was examined using Sniffin' Sticks. RESULTS: In a study of 22 OGM patients, mutations were as follows: 10 with SMO/SUFU, 7 with AKT1, and 5 as wild type. Planum sphenoidale hyperostosis (PSH) was present in 75% of patients, showing significant variation by mutation (p = 0.048). Tumour volumes, averaging 25 cm3, significantly differed among groups. PSH negatively impacted olfaction, notably affecting odour threshold, discrimination, identification, and global olfactory performance score (TDI) (p values ranging from <0.001 to 0.003). Perifocal oedema was associated with lower TDI (p = 0.009) and altered threshold scores (p = 0.038). Age over 65 and female gender were linked to lower thresholds and discrimination scores (p = 0.037 and p = 0.019). CONCLUSION: The study highlights PSH and perifocal oedema's significant effect on olfactory function in OGM patients but finds no link between olfactory impairment and tumour mutations, possibly due to the small sample size. This suggests that age and gender affect olfactory impairment. Additional research with a larger group of participants is needed to explore the impact of OGM driver mutations on olfactory performance.

4.
J Neurooncol ; 160(1): 55-65, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36103000

RESUMO

OBJECTIVE: The goal of this retrospective study is the evaluation of risk factors for postoperative neurological deficits after petroclival meningioma (PCM) surgery with special focus on standard craniotomies. MATERIALS AND METHODS: One-hundred-fifty-eight patients were included in the study, of which 133 patients suffered from primary and 25 from recurrent PCM. All patients were operated on and evaluated concerning age, tumor size, histology, pre- and postoperative cranial nerve (CN) deficits, morbidity, mortality, and surgical complications. Tumor-specific features-e.g., consistency, surface, arachnoid cleavage, and location-were set in a four-grade classification system that was used to evaluate the risk of CN deficits and tumor resectability. RESULTS: After primary tumor resection, new CN deficits occurred in 27.3% of patients. Preoperative ataxia improved in 25%, whereas 10% developed new ataxia. Gross total resection (GTR) was achieved in 59.4%. The morbidity rate, including hemiparesis, shunt-dependence, postop-hemorrhage, and tracheostomy was 22.6% and the mortality rate was 2.3%. In recurrent PCM surgery, CN deficits occurred in 16%. GTR could be achieved in three cases. Minor complications occurred in 20%. By applying the proposed new classification system to patients operated via standard craniotomies, the best outcome was observed in type I tumor patients (soft tumor consistency, smooth surface, plane arachnoid cleavage, and unilateral localization) with GTR in 78.7% (p < 0.001) and 11.9% new CN deficits (p = 0.006). CONCLUSION: Standard craniotomies as the retrosigmoid or subtemporal/pterional approaches are often used for the resection of PCMs. Whether these approaches are sufficient for GTR-and avoidance of new neurological deficits-depends mainly on the localization and intrinsic tumor-specific features.


Assuntos
Neoplasias Meníngeas , Meningioma , Neoplasias da Base do Crânio , Humanos , Meningioma/patologia , Neoplasias Meníngeas/patologia , Estudos Retrospectivos , Procedimentos Neurocirúrgicos/efeitos adversos , Procedimentos Neurocirúrgicos/métodos , Resultado do Tratamento , Recidiva Local de Neoplasia/cirurgia , Recidiva Local de Neoplasia/complicações , Neoplasias da Base do Crânio/patologia , Craniotomia/efeitos adversos , Craniotomia/métodos , Ataxia/etiologia
5.
J Neurointerv Surg ; 13(3): 221-225, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32527939

RESUMO

BACKGROUND: To assess whether thrombus surface morphology has an impact on first pass reperfusion in contact aspiration (CA) and stent retriever (SR) thrombectomy. METHODS: From January 2016 to December 2018, consecutive stroke patients with an occlusion of the middle cerebral artery and thrombectomy (CA or SR) were examined in this retrospective study. We assessed patients' characteristics, procedural data and clinical outcome. Thrombus surface on pretreatment digital subtraction angiography (DSA) was categorized into regular versus irregular phenotype by blinded three-reader-consensus. Primary outcome was successful reperfusion (modified treatment in cerebral ischemia (mTICI) 2b-3) after first pass. Data analysis was stratified according to thrombectomy technique and thrombus phenotype. RESULTS: Among 203 patients (76 years (IQR 65.5-81.9), 47.3% male, National Institutes of Health Stroke Scale Score 16 (IQR 12-20)), 155 patients were treated primarily with CA and 48 with SR. 40% (n=62/155) CA and 41.7% (n=20/48) SR-treated patients had a regular thrombus phenotype. In the CA group, successful reperfusion after first pass was more frequently obtained in patients with regular compared with irregular phenotype (69.4% (n=43/62) vs 34.4% (n=32/93); P<0.0001). In contrast, in the SR group, reperfusion after first pass was achieved in 35% (n=7/20; P=0.01) of patients with regular phenotypes. In the CA group, median number of passes (1 (1-2) vs 2 (1-4); P<0.00001) and time from reaching the thrombus to reperfusion (19±27 vs 38±36 min; P=0.0001) were lower among patients with a regular phenotype. CONCLUSION: Direct CA is associated with higher rates of successful first pass reperfusion in patients with a regular thrombus phenotype in pretreatment DSA.


Assuntos
Isquemia Encefálica/cirurgia , Paracentese/métodos , Reperfusão/métodos , Stents , Acidente Vascular Cerebral/cirurgia , Trombectomia/métodos , Idoso , Idoso de 80 Anos ou mais , Angiografia Digital/métodos , Isquemia Encefálica/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Estudos Retrospectivos , Stents/efeitos adversos , Acidente Vascular Cerebral/diagnóstico por imagem , Trombose/diagnóstico por imagem , Trombose/cirurgia , Resultado do Tratamento
6.
Neurooncol Pract ; 7(2): 185-195, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32626587

RESUMO

BACKGROUND: Pseudoprogression (psPD) represents false radiologic evidence of tumor progression and is observed in some glioblastoma (GBM) patients after postoperative chemoradiation (CRT) with temozolomide (TMZ). The ambiguity of the psPD diagnosis confounds identification of true progression and may lead to unnecessary interventions. The association between psPD and isocitrate dehydrogenase 1 (IDH1) mutational (mut) status is understudied, and its incidence may alter clinical decision making. METHODS: We retrospectively evaluated 120 patients with IDH1-mut (n = 60) and IDH1-wild-type (IDH-WT; [n = 60]) GBMs who received postoperative CRT with TMZ at 4 academic institutions. Response Assessment in Neuro-Oncology criteria were used to identify psPD rates in routine brain MRIs performed up to 90 days after CRT completion. RESULTS: Within 90 days of completing CRT, 9 GBM patients (1 [1.7%] IDH1-mut and 8 [13.3%] IDH1-WTs) demonstrated true progression, whereas 17 patients (3 [5%] IDH1-muts and 14 [23.3%] IDH1-WTs) demonstrated psPD (P = .004). IDH1-mut GBMs had a lower probability of psPD (hazard ratio: 0.173, 95% CI, 0.047-0.638, P = .008). Among the patients with radiologic signs suggestive of progression (n = 26), psPD was found to be the cause in 3 of 4 (75.0%) of the IDH1-mut GBMs and 14 of 22 (63.6%) of the IDH1-WT GBMs (P = .496). Median overall survival for IDH1-mut and IDH1-WT GBM patients was 40.3 and 23.0 months, respectively (P < .001). CONCLUSIONS: IDH1-mut GBM patients demonstrate lower absolute rates of psPD expression. Irrespective of GBM subtype, psPD expression was more likely than true progression within 90 days of completing CRT. Continuing adjuvant treatment for IDH1-mut GBMs is suggested if radiologic progression is suspected during this time interval.

7.
Eur J Cancer ; 110: 11-20, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30739835

RESUMO

BACKGROUND: Combining stereotactic radiosurgery (SRS) and active systemic therapies (STs) achieved favourable survival outcomes in patients with melanoma brain metastases (MBMs) in retrospective analyses. However, several aspects of this treatment strategy remain poorly understood. We report on the overall survival (OS) of patients with MBM treated with a combination of radiotherapy (RT) and ST as well as the impact of the v-Raf murine sarcoma viral oncogene homolog B (BRAF)-V600 mutation (BRAFmut) status, types of RT and ST and their sequence. PATIENTS AND METHODS: Data of 208 patients treated with SRS or whole brain radiation therapy (WBRT) and either immunotherapy (IT) or targeted therapy (TT) within a 6-week interval to RT were analysed retrospectively. OS was calculated from RT to death or last follow-up. Univariate and multivariate Cox proportional hazard analyses were performed to determine prognostic features associated with OS. RESULTS: The median follow-up was 7.3 months. 139 patients received IT, 67 received TT and 2 received IT and TT within 6 weeks to RT (WBRT 45%; SRS 55%). One-year Kaplan-Meier OS rates were 69%, 65%, 33% and 18% (P < .001) for SRS with IT, SRS with TT, WBRT with IT and WBRT with TT, respectively. Patients with a BRAFmut receiving IT combined with RT experienced higher OS rates (88%, 65%, 50% and 18%). TT following RT or started before and continued thereafter was associated with improved median OS compared with TT solely before RT (12.2 [95% confidence interval {CI} 9.3-15.1]; 9.8 [95% CI 6.9-12.6] versus 5.1 [95% CI 2.7-7.5]; P = .03). CONCLUSION: SRS and IT achieved the highest OS rates. A BRAFmut appears to be a favourable prognostic factor for OS. For the combination of RT and TT, the sequence appears to be crucial. Combinations of WBRT and ST achieved unprecedentedly high OS rates and warrant further studies.


Assuntos
Neoplasias Cutâneas , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Encefálicas/mortalidade , Neoplasias Encefálicas/secundário , Neoplasias Encefálicas/terapia , Terapia Combinada , Feminino , Alemanha/epidemiologia , Humanos , Imunoterapia/métodos , Imunoterapia/mortalidade , Masculino , Melanoma/mortalidade , Melanoma/secundário , Melanoma/terapia , Pessoa de Meia-Idade , Terapia de Alvo Molecular , Mutação/genética , Proteínas Proto-Oncogênicas B-raf/genética , Radiocirurgia/métodos , Radiocirurgia/mortalidade , Estudos Retrospectivos , Taxa de Sobrevida , Resultado do Tratamento
8.
J Neurooncol ; 141(2): 327-335, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30536195

RESUMO

PURPOSE: With the updated World Health Organization (WHO) 2016 neuropathological diagnostic criteria, radiographic prognostic associations in lower-grade gliomas (LGG, WHO grade II and III) are undergoing re-evaluation. METHODS: We identified 316 LGG patients (151 grade II and 165 grade III) for a combined cohort from three independent databases. We analyzed the preoperative axial FLAIR, axial T2-weighted and post-gadolinium volumetric T1-weighted MR images. The molecular data collected included the status of IDH1/2, TP53, TERT promoter and ATRX mutations, in addition to 1p/19q co-deletions. In a subset of cases (n = 133), we assessed the "T2-FLAIR mismatch" sign. RESULTS: Gliomas were assigned to one of the three molecular groups: Group O (IDH-mutant, 1p/19q co-deleted oligodendrogliomas, n = 95), Group A (IDH-mutant, ATRX inactivated astrocytomas, n = 175) and Group G (IDH wild-type, GBM-like, n = 46). A contrast-enhancing tumor was seen in 98 patients (31%), most frequently in Group G (n = 28/45, 57%), when compared to Group A (n = 49/175, 28%) and Group O (n = 24/95, 25.3%) tumors (p = 0.008 and p = 0.0011, respectively). Consistent with previous reports, T2-FLAIR mismatch was preferentially found in Group A tumors (73.1%, 60 of 82), although its presence was not associated with survival, after controlling for molecular group. False positive mismatch sign was noted in 28.5% (12/42) Group O tumors, but none of the tumors in Group G. A combination of all three factors: age under 40 years at first diagnosis, a tumor size larger than 6 cm and T2-FLAIR mismatch was highly specific for IDH mutant astrocytoma (Group A). CONCLUSION: We identify radiographic correlates of molecular groups in lower-grade gliomas, which join clinical demographic features in defining the characteristic presentation of these tumors. Radiographic correlates of prognosis in LGG require re-evaluation within molecular group.


Assuntos
Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/patologia , Glioma/diagnóstico por imagem , Glioma/patologia , Imageamento por Ressonância Magnética/métodos , Intensificação de Imagem Radiográfica , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Encefálicas/genética , Glioma/genética , Humanos , Isocitrato Desidrogenase/genética , Estimativa de Kaplan-Meier , Pessoa de Meia-Idade , Mutação , Gradação de Tumores , Intervalo Livre de Progressão , Estudos Retrospectivos , Sensibilidade e Especificidade , Proteína Supressora de Tumor p53/genética , Proteína Nuclear Ligada ao X/genética , Adulto Jovem
9.
J Med Case Rep ; 12(1): 374, 2018 Dec 20.
Artigo em Inglês | MEDLINE | ID: mdl-30567605

RESUMO

BACKGROUND: Alterations of mental status are characteristic of psychiatric disorders but may also result from a multitude of organic causes. Generally, physical examination and blood analysis are a part of basic psychiatric differential diagnostics, whereas more sophisticated procedures (for example, brain imaging) are applied only in cases with pathologic diagnostic findings. Our report challenges this approach by describing a case of glioblastoma multiforme presenting as postpartum depression without abnormalities in basic differential diagnostics. CASE PRESENTATION: A 28-year-old white woman who had been in outpatient treatment for postpartum depression was taken to the psychiatric emergency room. The psychopathological assessment, however, showed mild disorientation and severe deficits of long-term memory. Moreover, she complained of stabbing, bilateral headaches, but results of her physical examination and blood analysis were unremarkable. Magnetic resonance imaging of the brain was performed, which showed a contrast-enhanced mass lesion in the left frontal lobe. The patient underwent urgent tumor resection, and histologic results revealed an IDH-mutant glioblastoma multiforme. The patient was discharged with a substantially improved psychopathology and without neurological deficits. CONCLUSIONS: This report adds to the evidence that postpartum depression may have organic causes in some cases, a fact that needs to be considered in the clinical setting. Atypical neurocognitive findings in a psychiatric interview may alone justify brain imaging, despite normal physical examination and blood analysis results.


Assuntos
Neoplasias Encefálicas/diagnóstico por imagem , Depressão Pós-Parto/psicologia , Neuroimagem Funcional , Glioblastoma/diagnóstico por imagem , Cefaleia/diagnóstico por imagem , Imageamento por Ressonância Magnética , Adulto , Neoplasias Encefálicas/psicologia , Neoplasias Encefálicas/cirurgia , Diagnóstico Diferencial , Feminino , Glioblastoma/psicologia , Glioblastoma/cirurgia , Cefaleia/etiologia , Humanos , Comportamento Materno , Procedimentos Neurocirúrgicos , Recuperação de Função Fisiológica/fisiologia , Resultado do Tratamento
10.
Front Neurol ; 9: 694, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30186227

RESUMO

Background: The diagnostic value of cerebrospinal fluid (CSF) analysis in juvenile stroke, i.e., stroke in young adult patients, is not well studied. We sought to determine the therapeutic impact of routine CSF-analysis in young adults with acute ischemic stroke or transient ischemic attack (TIA). Methods: We abstracted data from patients with acute cerebral ischemia aged 18-45 years who were consecutively admitted to our stroke center between 01/2008 and 12/2015. We routinely performed CSF-analysis in patients with hitherto unknown stroke etiology after complete diagnostic work up. We assessed the frequency and underlying causes of abnormal CSF-findings and their impact on secondary stroke prevention therapy. Results: Among 379 patients (median [IQR:IQR3-IQR1] age 39 [10:43-33] years, 48% female) with acute ischemic stroke (n = 306) or TIA (n = 73), CSF analysis was performed in 201 patients (53%). Of these, 25 patients (12.4 %) had CSF pleocytosis (leucocyte cell count ≥ 5 Mpt/L), that was rated as non-specific (e.g., traumatic lumbar puncture, reactive pleocytosis) in 22 patients. Only 3 patients (1.5% of all patients who underwent CSF-analysis) with CSF-pleocytosis had specific CSF-findings that were related to stroke etiology and affected secondary stroke prevention therapy. Imaging findings had already suggested cerebral vasculitis in two of these patients. Conclusions: The diagnostic yield of routine CSF-analysis in juvenile stroke was remarkably low in our study. Our data suggest that CSF-analysis should only be performed if further findings raise the suspicion of cerebral vasculitis.

11.
Acta Neuropathol ; 136(5): 779-792, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30123936

RESUMO

Progressive meningiomas that have failed surgery and radiation have a poor prognosis and no standard therapy. While meningiomas are more common in females overall, progressive meningiomas are enriched in males. We performed a comprehensive molecular characterization of 169 meningiomas from 53 patients with progressive/high-grade tumors, including matched primary and recurrent samples. Exome sequencing in an initial cohort (n = 24) detected frequent alterations in genes residing on the X chromosome, with somatic intragenic deletions of the dystrophin-encoding and muscular dystrophy-associated DMD gene as the most common alteration (n = 5, 20.8%), along with alterations of other known X-linked cancer-related genes KDM6A (n =2, 8.3%), DDX3X, RBM10 and STAG2 (n = 1, 4.1% each). DMD inactivation (by genomic deletion or loss of protein expression) was ultimately detected in 17/53 progressive meningioma patients (32%). Importantly, patients with tumors harboring DMD inactivation had a shorter overall survival (OS) than their wild-type counterparts [5.1 years (95% CI 1.3-9.0) vs. median not reached (95% CI 2.9-not reached, p = 0.006)]. Given the known poor prognostic association of TERT alterations in these tumors, we also assessed for these events, and found seven patients with TERT promoter mutations and three with TERT rearrangements in this cohort (n = 10, 18.8%), including a recurrent novel RETREG1-TERT rearrangement that was present in two patients. In a multivariate model, DMD inactivation (p = 0.033, HR = 2.6, 95% CI 1.0-6.6) and TERT alterations (p = 0.005, HR = 3.8, 95% CI 1.5-9.9) were mutually independent in predicting unfavorable outcomes. Thus, DMD alterations identify a subset of progressive/high-grade meningiomas with worse outcomes.


Assuntos
Distrofina/genética , Deleção de Genes , Neoplasias Meníngeas/genética , Meningioma/genética , Idoso , Idoso de 80 Anos ou mais , Linhagem Celular Tumoral/patologia , Linhagem Celular Tumoral/ultraestrutura , Estudos de Coortes , Progressão da Doença , Distrofina/metabolismo , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Neoplasias Meníngeas/diagnóstico por imagem , Neoplasias Meníngeas/patologia , Meningioma/diagnóstico por imagem , Meningioma/patologia , Microscopia Eletrônica de Transmissão , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase Multiplex , RNA Mensageiro/metabolismo , Cromatina Sexual/genética , Telomerase/genética , Telomerase/metabolismo , Sequenciamento do Exoma
12.
Clin Cancer Res ; 24(21): 5282-5291, 2018 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-29941484

RESUMO

Purpose: We conducted a pilot study to assess the feasibility and the potential implications of detecting TERT promoter (TERTp)-mutant cell-free tumor-derived DNA (tDNA) in the cerebrospinal fluid (CSF) and plasma of glioblastoma patients.Experimental Design: Matched CSF and plasma samples were collected in 60 patients with glial tumors. The CSF collection was obtained during surgery, before any surgical manipulation of the tumor. The extracted tDNA and corresponding tumor DNA samples were analyzed for TERTp and isocitrate dehydrogenase (IDH) hotspot mutations. In addition, the variant allele frequency (VAF) of TERTp mutation in the CSF-tDNA was correlated with tumor features and patients' outcome.Results: Thirty-eight patients had TERTp-mutant/IDH wild-type glioblastomas. The matched TERTp mutation in the CSF-tDNA was successfully detected with 100% specificity (95% CI, 87.6-100%) and 92.1% sensitivity (95% CI, 78.6-98.3%) (n = 35/38). In contrast, the sensitivity in the plasma-tDNA was far lower [n = 3/38, 7.9% (95% CI, 1.6-21.4%)]. We concordantly observed a longer overall survival of patients with low VAF in the CSF-tDNA when compared with patients with high VAF, irrespective of using the lower quartile VAF [11.45%; 14.0 mo. (95% confidence interval, CI, 10.3-17.6) vs. 8.6 mo. (95% CI, 4.1-13.2), P = 0.035], the lower third VAF [13%; 15.4 mo. (95% CI, 11.6-19.2) vs. 8.3 mo. (95% CI, 2.3-14.4), P = 0.008], or the median VAF [20.3%; 14.0 mo. (95% CI, 9.2-18.7) vs. 8.6 mo. (95% CI, 7.5-9.8), P = 0.062] to dichotomize the patients.Conclusions: This pilot study highlights the value of CSF-tDNA for an accurate and reliable detection of TERTp mutations. Furthermore, our findings suggest that high TERTp mutation VAF levels in the CSF-tDNA may represent a suitable predictor of poor survival in glioblastoma patients. Further studies are needed to complement the findings of our exploratory analysis. Clin Cancer Res; 24(21); 5282-91. ©2018 AACR.


Assuntos
Neoplasias Encefálicas/genética , DNA Tumoral Circulante , Glioblastoma/genética , Isocitrato Desidrogenase/genética , Mutação , Regiões Promotoras Genéticas , Telomerase/genética , Idoso , Biomarcadores Tumorais , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/mortalidade , Neoplasias Encefálicas/terapia , Metilação de DNA , Análise Mutacional de DNA , Feminino , Glioblastoma/diagnóstico , Glioblastoma/mortalidade , Glioblastoma/terapia , Humanos , Estimativa de Kaplan-Meier , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Prognóstico
13.
Oncology ; 93(1): 43-50, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28395288

RESUMO

OBJECTIVE: To assess the safety and effectiveness of bis-chloroethylnitrosourea (BCNU) wafers in elderly patients with recurrent glioblastoma (GBM). METHODS: Patients with recurrent GBM operated on between 2007 and 2014 were divided into 3 groups: >65 years with BCNU wafer implantation, >65 years without BCNU wafer implantation, and ≤65 years with BCNU wafer implantation. We compared survival and complications. RESULTS: A total of 79 patients were identified: 24 in the older BCNU group (median age 68.2 years, 33.3% with a methylated MGMT promoter), 16 in the older non-BCNU group (median age 68.6 years, 31.3% with a methylated MGMT promoter), and 39 in the younger BCNU group (median age 56.8 years). Survival after progression was 9.2 months in the elderly BCNU group and 7.6 months in the elderly non-BCNU group (p = 0.34); overall survival was 17.2 and 15.9 months, respectively (p = 0.35). We found a tendency toward a higher rate of seizures and pneumonia in the older BCNU group. CONCLUSION: BCNU wafer implantation after resection of recurrent GBM is a reasonably safe treatment in patients aged >65 years. Seizures and systemic infections may occur more frequently, but the trade-off is still favorable as survival may be influenced positively. Higher age should not be regarded as a contraindication for BCNU wafers.


Assuntos
Antineoplásicos Alquilantes/efeitos adversos , Antineoplásicos Alquilantes/uso terapêutico , Neoplasias Encefálicas/tratamento farmacológico , Carmustina/efeitos adversos , Carmustina/uso terapêutico , Glioblastoma/tratamento farmacológico , Recidiva Local de Neoplasia/tratamento farmacológico , Idoso , Protocolos de Quimioterapia Combinada Antineoplásica , Neoplasias Encefálicas/mortalidade , Neoplasias Encefálicas/patologia , Intervalo Livre de Doença , Feminino , Glioblastoma/mortalidade , Glioblastoma/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/mortalidade , Recidiva Local de Neoplasia/patologia , Estudos Retrospectivos , Análise de Sobrevida
14.
Neuroradiology ; 59(3): 297-304, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28251328

RESUMO

INTRODUCTION: The study aimed to compare efficacy and safety of aspiration thrombectomy (AT) to stentriever thrombectomy (SRT) in patients with basilar artery (BA) occlusion (BAO). METHODS: We retrospectively included patients with the following characteristics: acute BAO or occlusion of the intracranial vertebral artery (ICVA) and endovascular therapy (EVT) with stentriever (SRT) or aspiration thrombectomy (AT). Additional extra- but not intracranial EVT and intravenous thrombolysis (IVT) were allowed. RESULTS: Between January 2013 and April 2016, 33 patients fulfilled the criteria (13 treated with SRT, 20 with AT). Prior to EVT, 23 (70%) patients received IVT. The proximal intracranial occlusion was ICVA in 2 patients, proximal BA in 5 patients, middle BA in 20 patients, and distal BA in 6 patients. Mean time to treatment was 334 min (95% CI 276-391 min). Procedure duration differed significantly (p = 0.002) as follows: 97 min with SRT (95% CI 69-124 min) and 55 min with AT (95% CI 43-66 min). Recanalization (arterial occlusive lesion (AOL) 2/3) was achieved in 26 patients (79%). Complete recanalization (AOL 3) happened more often with AT (75% (95% CI 65-85%)) compared to SRT (46% (95% CI 32-60%)). Conversion rate 6% (two patients). Hemorrhages occurred in 12 (36%) patients, periprocedural complications in eight (three dissections, five embolizations to new territory) (no group difference). Ten patients (30%) had a favorable outcome (mRS ≤3) at discharge; mortality rate was 24% (eight deaths) (no group difference). CONCLUSION: In primarily embolic BAO, aspiration thrombectomy was faster, effective and not detrimental to outcome as compared to stentriever thrombectomy. Thus, it may be justified to use aspiration thrombectomy as first-line treatment in these patients.


Assuntos
Arteriopatias Oclusivas/diagnóstico por imagem , Arteriopatias Oclusivas/terapia , Artéria Basilar , Stents , Acidente Vascular Cerebral/terapia , Sucção/métodos , Trombectomia/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Angiografia Cerebral , Angiografia por Tomografia Computadorizada , Remoção de Dispositivo , Feminino , Humanos , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento
15.
Oncotarget ; 8(65): 109228-109237, 2017 Dec 12.
Artigo em Inglês | MEDLINE | ID: mdl-29312603

RESUMO

BACKGROUND: Recent studies have reported mutations in the telomerase reverse transcriptase promoter (TERTp) in meningiomas. We sought to determine the frequency, clonality and clinical significance of telomere gene alterations in a cohort of patients with progressive/higher-grade meningiomas. METHODS: We characterized 64 temporally- and regionally-distinct specimens from 26 WHO grade III meningioma patients. On initial diagnoses, the meningiomas spanned all WHO grades (3 grade I, 13 grade II and 10 grade III). The tumor samples were screened for TERTp and ATRX/DAXX mutations, and TERT rearrangements. Additionally, TERTp was sequenced in a separate cohort of 19 patients with radiation-associated meningiomas. We examined the impact of mutational status on patients' progression and overall survival. RESULTS: Somatic TERTp mutations were detected in six patients (6/26 = 23%). Regional intratumoral heterogeneity in TERTp mutation status was noted. In 4 patients, TERTp mutations were detected in recurrent specimens but not in the available specimens of the first surgery. Additionally, a TERT gene fusion (LPCAT1-TERT) was found in one sample. In contrary, none of the investigated samples harbored an ATRX or DAXX mutation. In the cohort of radiation-induced meningiomas, TERTp mutation was detected in two patients (10.5%). Importantly, we found that patients with emergence of TERTp mutations had a substantially shorter OS than their TERTp wild-type counterparts (2.7 years, 95% CI 0.9 - 4.5 years versus 10.8 years, 95% CI 7.8 -12.8 years, p=0.003). CONCLUSIONS: In progressive/higher-grade meningiomas,TERTp mutations are associated with poor survival, supporting a model in which selection of this alteration is a harbinger of aggressive tumor development. In addition, we observe spatial intratumoral heterogeneity of TERTp mutation status, consistent with this model of late emergence in tumor evolution. Thus, early detection of TERTp mutations may define patients with more aggressive meningiomas. Stratification for TERT alterations should be adopted in future clinical trials of progressive/higher-grade meningiomas.

16.
Childs Nerv Syst ; 31(11): 2193-8, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26077595

RESUMO

BACKGROUND: Only a few cases have been previously published about clear cell meningiomas in children, the majority of them in the location of the spine. We describe an unusual case of clear cell meningioma occurring at the petro-clival region in a 5-year-old child. We further seek to determine the impact of several growth factors as well as the AKT1 mutation on the tumor growth pattern. CASE PRESENTATION: A five-year-old girl was presented with a one-week history of cephalgia, ataxia, and left sided torticollis. Magnetic resonance imaging (MRI) revealed a dumbbell-shaped homogeneously petro-clival gadolinium-enhancing mass. A staged operative approach was chosen, and a complete removal of the tumor was achieved. Due to recurrent tumor progression, the child underwent several tumor surgeries and two cranial radiations. None of the treatments were able to stop tumor progression. Consequently, the child died at the age of 14 after further extensive intracranial and extracranial tumor progression. The initial histological examination revealed a clear cell meningioma WHO grade II with an MIB-1 labeling index of <1%, which gradually increased with every recurrence up to 10% by the last progression at the age of 13 years. Analogically, an increasing overexpression of epidermal growth factor receptor (EGFR), the platelet-derived growth factor receptor (PDGFR), and the vascular endothelial growth factor receptor (VEGFR) was observed with each recurrence. The AKT1 (E17K) mutation in the tumor was not detectable in all investigated specimens. CONCLUSION: Pediatric clear cell meningiomas WHO grade II are very rare. Our data demonstrate the progressive overexpression of EGF-, PDGF-, and VEGF-receptors in each recurrence, providing one of these receptors as targeted therapy in such cases. Further evaluation of these growth factors in clear cell meningioma is required to establish the optimal treatment of these aggressive tumors.


Assuntos
Encéfalo/patologia , Neoplasias Meníngeas/patologia , Meningioma/patologia , Encéfalo/metabolismo , Pré-Escolar , Receptores ErbB , Feminino , Humanos , Estudos Longitudinais , Imageamento por Ressonância Magnética , Neoplasias Meníngeas/genética , Neoplasias Meníngeas/cirurgia , Meningioma/genética , Meningioma/cirurgia , Mutação/genética , Proteínas Proto-Oncogênicas c-akt/genética , Receptor alfa de Fator de Crescimento Derivado de Plaquetas/metabolismo , Receptores de Fatores de Crescimento do Endotélio Vascular/metabolismo
17.
BMC Med Imaging ; 15: 4, 2015 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-25885469

RESUMO

BACKGROUND: Hibernomas are rare benign soft-tissue tumours arising from brown fat tissue. Although imaging characteristics are not specific certain imaging features, common locations and patient demographics may suggest hibernoma as a differential diagnosis. CASE PRESENTATION: We report on two 48-year-old male patients with hibernoma. The tumour presented with local swelling of the inguinal region in the first patient and was an incidental imaging finding in the second patient. Imaging included magnetic resonance imaging in both patients and computed tomography as well as 18F-fluorodeoxyglucose positron emission tomography-computed tomography in the second patient. In both cases histological diagnosis was initially based on excisional and needle core biopsy, respectively. Complete surgical resection confirmed the diagnosis of hibernoma thereafter. CONCLUSION: In soft tissue tumours with fatty components hibernoma may be included into the differential diagnosis. Because of the risk of sampling errors in hibernoma-like tissue components of myxoid and well-differentiated liposarcoma, complete resection is mandatory. This article also reviews the current imaging literature of hibernomas.


Assuntos
Diagnóstico por Imagem/métodos , Lipoma/diagnóstico , Neoplasias Musculares/diagnóstico , Diagnóstico Diferencial , Humanos , Lipoma/cirurgia , Masculino , Pessoa de Meia-Idade , Doenças Raras/diagnóstico , Resultado do Tratamento
18.
Clin Neurol Neurosurg ; 124: 25-31, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24999541

RESUMO

PURPOSE: To determine if minimally invasive transforaminal lumbar interbody fusion (TLIF) using the Medtronic Sextant system is a reliable surgical treatment option in patients with recurrent lumbar disc herniation, compared with the traditional open procedure. PATIENTS AND METHODS: Clinical and radiographic data were retrospectively collected from a total of 33 patients who underwent single level lumbar fusion between 2007 and 2010. 14 underwent minimally invasive TLIF using the Sextant system, and the other 19 patients underwent the open procedure. All patients suffered from at least first recurrent lumbar disc herniation, and additionally from disc degeneration associated with erosive chondrosis Modic grade I-II due to previous surgical, non-instrumental interventions. RESULTS: Median operation time in the minimally invasive group was 140 min (95-190); average X-ray exposure time: 2.35 min (1.5-3.5); median postoperative resting time in hospital: 5 days (3-7). Postoperative pain relief and mobility improvement were documented with the visual analogue scale (6.9-3.0) and the Oswestry Disability Index (6.8-2.4). All patients benefited from surgery at follow up. These data were on many terms significantly superior compared with data of patients in the open surgery group. CONCLUSION: Percutaneous minimally invasive TLIF technique with the Medtronic Sextant system is a gentle, tissue protecting and safe alternative procedure for lumbar fusion in patients with recurrent lumbar disc herniation and erosive chondrosis.


Assuntos
Pinos Ortopédicos , Deslocamento do Disco Intervertebral/cirurgia , Vértebras Lombares/cirurgia , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Parafusos Pediculares , Fusão Vertebral/métodos , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva , Resultado do Tratamento
19.
J Neurotrauma ; 31(17): 1521-7, 2014 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-24738836

RESUMO

The focus of this paper is to identify and quantify risk factors for early hemorrhagic progression of brain contusions (HPC) in patients with traumatic brain injury (TBI) and to evaluate their impact on patients' outcome. Further, based on abnormal values in routine blood tests, the role of trauma-induced coagulopathy is analyzed in detail. Therefore, a prospective study of 153 TBI patients was completed at one institution between January 2008 and June 2012. The collected data included demographics, initial Glasgow Coma Scale pupillary response, initial and 6 h follow-up computed tomography scan findings, coagulation parameters (international normalized ratio, partial thromboplastin time, platelet count, fibrinogen, D-dimer and factor XIII), as well as outcome data using the modified Rankin score at discharge and after one year. The overall rate of early HPC within the first 6 h was 43.5%. The frequency of coagulopathy was 47.1%. When analyzing for risk factors that independently influenced outcome in the form of mRS ≥4 at both points, the following variables appeared: elevated D-dimer level (≥10,000 µg/L), HPC, and initial brain contusions ≥3 cm. Patients sustaining early HPC had a hazard ratio of 5.4 for unfavorable outcome at discharge (p=0.002) and of 3.9 after one year (p=0.006). Overall, patients who developed early HPC were significantly more likely to be gravely disabled or to die. Unfavorable neurological outcome after an isolated TBI is determined largely by early HPC and coagulopathy, which seem to occur very frequently in TBI patients, irrespective of the severity of the trauma.


Assuntos
Transtornos da Coagulação Sanguínea/epidemiologia , Hemorragia Encefálica Traumática/epidemiologia , Lesões Encefálicas/complicações , Adolescente , Adulto , Idoso , Hemorragia Encefálica Traumática/etiologia , Lesões Encefálicas/mortalidade , Progressão da Doença , Feminino , Escala de Coma de Glasgow , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Prospectivos , Fatores de Risco , Tomografia Computadorizada por Raios X , Adulto Jovem
20.
Ann Thorac Surg ; 95(4): 1445-7, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23522211

RESUMO

Although cardiac contusions are common, cardiac rupture is an uncommon sequela of blunt chest trauma. The mortality rate associated with cardiac rupture is very high, and patients usually do not survive long enough to reach the hospital. We report a 66-year-old man with a history of coronary artery bypass grafting 15 years previously, who was involved in a traffic accident and experienced multiple trauma, including a small contained rupture of the right ventricular outflow tract. He survived, and a false aneurysm developed at the site of the rupture within the next 6 months. The patient then underwent a cardiac operation, and the aneurysm was successfully resected. The intraoperative and postoperative courses were uneventful. In this case, the previous cardiac operation with the resulting pericardial adhesions proved to be lifesaving.


Assuntos
Acidentes de Trânsito , Ponte de Artéria Coronária , Doença da Artéria Coronariana/cirurgia , Traumatismos Cardíacos/cirurgia , Ventrículos do Coração/lesões , Esternotomia/métodos , Ferimentos não Penetrantes/cirurgia , Idoso , Ecocardiografia , Seguimentos , Traumatismos Cardíacos/etiologia , Humanos , Masculino , Tomografia Computadorizada por Raios X , Ferimentos não Penetrantes/etiologia
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