PATH-35. AKT1(E17K) MUTATIONS ARE FREQUENT GENOMIC EVENTS IN CERVICAL SPINAL MENINGIOMAS

2021 ◽  
Vol 23 (Supplement_6) ◽  
pp. vi122-vi123
Author(s):  
Majd Alkhatib ◽  
Gabriele Schackert ◽  
Tareq Juratli
Keyword(s):  
Cervical Spine ◽  
Hot Spot ◽  
Molecular Study ◽  
Targeted Sequencing ◽  
Molecular Profile ◽  
Imaging Data ◽  
Who Grade ◽  
Simpson Grade ◽  
Spinal Meningiomas ◽  
Male Patients

Abstract INTRODUCTION Spinal meningiomas represent about one-third of all spine tumors. To date, little is known about the molecular profile of spinal meningiomas and their clinical impact. In this study, we correlate clinical parameters with targeted sequencing findings in a well-characterized cohort of 42 patients with spinal meningiomas. METHODS Samples from 42 spinal meningiomas (31 females and 11 males) were collected. Targeted sequencing for AKT1 E17K hot spot mutations was performed. Furthermore, clinical and imaging data were collected and correlated with the AKT1 mutation status. RESULTS Gross total resection (Simpson grade I /II) was achieved in all patients. The mean follow-up period was 60 months (6 –288 months). None of the patients demonstrated a tumor recurrence. AKT1E17K mutations were detected in 8 patients (19%), in five male and three female patients (p= 0.019). Although the majority of resected meningiomas (n= 28, 66.6%) were located in the thoracic spine, meningiomas originating in the cervical spine harbored significantly more AKT1 E17K mutations (6 out of 14, p= 0.010). Notably, all AKT1 mutated meningiomas arose ventrally or ventrolaterally to the spinal cord. The histologic examination revealed a WHO Grade 1 in 36 meningiomas (85.7%): 21 meningothelial, 8 psammomatous, 5 transitional, 2 fibrous. The remaining six meningiomas were classified as atypical WHO grade 2. Remarkably, AKT1 E17K mutations were significantly related to a meningothelial subtype (p= 0.044). CONCLUSIONS Our molecular study demonstrates that AKT1 E17K mutations are a frequent genomic event in spinal meningiomas. The majority of AKT1 mutated meningiomas occurred in male patients, originate in the cervical spine, and exhibit meningothelial histology.

Factors Leading to a Poor Functional Outcome in Spinal Meningioma Surgery: Remarks on 173 Cases

Neurosurgery ◽  
2017 ◽  
Vol 80 (4) ◽  
pp. 602-609 ◽  
Author(s):  
Antonino Raco ◽  
Alessandro Pesce ◽  
Giada Toccaceli ◽  
Maurizio Domenicucci ◽  
Massimo Miscusi ◽  
...  
Keyword(s):  
Functional Outcome ◽  
Functional Improvement ◽  
Motor Deficit ◽  
Spinal Tumors ◽  
Functional Grade ◽  
Who Grade ◽  
Axial Location ◽  
Simpson Grade ◽  
Spinal Meningiomas

Abstract BACKGROUND: Spinal meningiomas are common spinal tumors, in most cases benign and with a good surgical prognosis. However, specific location, infiltration of spinal cord, vascular encasement, or spinal root involvement can bring a less favorable prognosis. OBJECTIVE: To correlate these data with clinical/functional outcome. METHODS: Two hundred twenty-four consecutive patients with spinal meningiomas treated from 1976 to 2013 in our institution were analyzed; among these, 51 were excluded for incomplete clinical data or follow-up. The remaining 173 cases were classified in regards to sex, age, symptoms, axial location, Simpson grade resection, and functional pre-/postoperative status. RESULTS: Most recurring onset symptoms were pain (32.9%) and motor deficit (31.8%); thoracic spine was the most severely affected (69.8%). Functional improvement on the follow-up was observed in 86.7% of cases; 6.4% of patients resulted stable and 6.9% worsened. A low functional grade before surgery was connected to a lesser improvement after. Anterolateral meningiomas were the most represented (42.2%); a gross total resection (Simpson grades I and II) was conducted in 98.8%, and a macroscopically complete removal without dural resection or coagulation (Simpson grade III) was performed in 1.2%. Of the meningiomas, 98.3% were classified as WHO grade I. Recurrence rate was 2.3%, and 7 cases presented complications (4 of 7 required surgical procedure). CONCLUSION: We can affirm that negative prognostic factors in our study were anterior or anterolateral axial location, prolonged presentation before diagnosis, WHO grade >I, Simpson grade resections II and III, sphincter involvement, and worse functional grade at onset.

A radiopathological classification of dural tail sign of meningiomas

2012 ◽  
Vol 117 (4) ◽  
pp. 645-653 ◽  
Author(s):  
Song-tao Qi ◽  
Yi Liu ◽  
Jun Pan ◽  
Silky Chotai ◽  
Lu-xiong Fang
Keyword(s):  
Tumor Cells ◽  
Histopathological Examination ◽  
Who Grade ◽  
Simpson Grade ◽  
Mri Studies ◽  
Dural Tail Sign ◽  
Significant Difference ◽  
Different Types ◽  
Dural Tail

Object The completeness of meningioma resection depends on the resection of dura mater invaded by the tumor. The pathological changes of the dura around the tumor can be interpreted by evaluating the dural tail sign (DTS) on MRI studies. The goal of this study was to clarify the pathological characteristics of the DTSs, propose a classification based on the histopathological and radiological correlation, and identify the invasive range of tumor cells in different types of DTS. Methods The authors retrospectively reviewed 179 patients with convexity meningiomas who underwent Simpson Grade I resection. All patients underwent an enhanced MRI examination preoperatively. The convexity meningiomas were dichotomized into various subtypes in accordance with the 2007 WHO classification of tumors of the CNS, and the DTS was identified based on the Goldsher criteria. The range of resection of the involved dura was 3 cm from the base of the tumor, which corresponded with the length of DTS on MRI studies. Histopathological examination of dura at 0.5, 1.0, 1.5, 2.0, 2.5, and 3.0 cm from the base of the tumor was conducted, and the findings were correlated with the preoperative MRI appearance of the DTS. Results A total of 154 (86%) of 179 convexity meningiomas were classified into WHO Grade I subtype, including transitional (44 [28.6%] of 154), meningothelial (36 [23.4%] of 154), fibrous (23 [14.9%] of 154), psammomatous (22 [14.3%] of 154), secretory (10 [6.5%] of 154), and angiomatous (19 [12.3%] of 154). The other 25 (14%) were non–Grade I (WHO) tumors, including atypical (12 [48%] of 25), anaplastic (5 [20%] of 25), and papillary (8 [32%] of 25). The DTS was classified into 5 types: smooth (16 [8.9%] of 179), nodular (36 [20.1%] of 179), mixed (57 [31.8%] of 179), symmetrical multipolar (15 [8.4%] of 179), and asymmetrical multipolar (55 [30.7%] of 179). There was a significant difference in distribution of DTS type between Grade I and non–Grade I tumors (p = 0.004), whereas the difference was not significant among Grade I tumors (0.841) or among non–Grade I tumors (p = 0.818). All smooth-type DTSs were encountered in Grade I tumors, and the mixed DTS (52 [33.8%] of 154) was the most common type in these tumors. Nodular-type DTS was more commonly seen in non–Grade I tumors (12 [48%] of 25). Tumor invasion was found in 88.3% (158 of 179) of convexity meningiomas, of which the range of invasion in 82.3% (130 of 158) was within 2 cm and that in 94.9% (150 of 158) was within 2.5 cm. The incidence of invasion and the range invaded by tumor cells varied in different types of DTS, and differences were statistically significant (p < 0.001). Conclusions Nodular-type DTS on MRI studies might be associated with non–Grade I tumors. The range of dural resection for convexity meningiomas should be 2.5 cm from the tumor base, and if this extent of resection is not feasible, the type of DTS should be considered. However, for skull base meningiomas, in which mostly Simpson Grade II resection is achieved, the use of this classification should be further validated. The classification of DTS enables the surgeon to predict preoperatively and then to achieve the optimal range of dural resection that might significantly reduce the recurrence rate of meningiomas.

scholarly journals The Clinical Value of PET with Amino Acid Tracers for Gliomas WHO Grade II

2011 ◽  
Vol 2011 ◽  
pp. 1-11 ◽  
Author(s):  
Anja Smits ◽  
Brigitta G. Baumert
Keyword(s):  
Amino Acid ◽  
Hot Spot ◽  
Imaging Techniques ◽  
Biological Behavior ◽  
Optimal Timing ◽  
Low Grade ◽  
Clinical Value ◽  
Who Grade ◽  
Positron Emission ◽  
Therapeutic Procedures

The clinical management of adults with low-grade gliomas (LGGs) remains a challenge. There is no curative treatment, and management of individual patients is a matter of deciding optimal timing as well as right treatment modality. In addition to conventional imaging techniques, positron emission tomography (PET) with amino acid tracers can facilitate diagnostic and therapeutic procedures. In this paper, the clinical applications of PET with amino acid tracers 11C-methyl-L-methionine (MET) and 18F-fluoro-ethyl-L-tyrosine (FET) for patients with LGG are summarized. We also discuss the value of PET for the long-term followup of this patient group. Monitoring metabolic activity by PET in individual patients during course of disease will provide insight in the biological behavior and evolution of these tumors. As such, spatial changes in tumor activity over time, including shifts of hot-spot regions within the tumor, may reflect intratumoral heterogeneity and correlate to clinical parameters.

PATH-40. SPORADIC NF2 WILD-TYPE MULTIPLE MENINGIOMAS HARBOR DISTINCT DRIVER MUTATIONS

2021 ◽  
Vol 23 (Supplement_6) ◽  
pp. vi124-vi124
Author(s):  
Insa Prilop ◽  
Thomas Pinzer ◽  
Daniel Cahill ◽  
Priscilla Brastianos ◽  
Gabriele Schackert ◽  
...  
Keyword(s):  
Hot Spot ◽  
Low Frequency ◽  
Neurofibromatosis Type ◽  
Driver Mutations ◽  
Wild Type ◽  
Driver Genes ◽  
Who Grade ◽  
Genetic Changes ◽  
Histologic Subtype ◽  
Multiple Meningiomas

Abstract OBJECTIVE Multiple meningiomas (MM) are rare and present a unique management challenge. While the mutational landscape of single meningiomas has been extensively studied, understanding the molecular pathogenesis of sporadic MM remains incomplete. The objective of this study is to elucidate the genetic features of sporadic MM. METHODS We identified nine patients with MM (n=19) defined as ≥2 spatially separated synchronous or metachronous meningiomas. We profiled genetic changes in these tumors using next-generation sequencing (NGS) assay that covers a large number of targetable and frequently mutated genes in meningiomas including AKT1, KLF4, NF2, PIK3CA/PIK3R1, POLR2A, SMARCB1, SMO, SUFU, TRAF7, and the TERT promoter. RESULTS Most of MM were WHO grade 1 (n= 16, 84.2%). Within individual patients, no driver mutation was shared between separate tumors. All but two cases harbored different hot spot mutations in known meningioma-driver genes like TRAF7 (n= 5), PIK3CA (n= 4), AKT1 (n= 3), POLR2A (n=1) and SMO (n= 1). Moreover, individual tumors differed in histologic subtype in 8/9 patients. The low frequency of NF2 mutations in our series stands in contrast to previous studies that included hereditary cases arising in the setting of neurofibromatosis type 2 (NF2). CONCLUSIONS Our findings provide evidence for genomic inter-tumor heterogeneity and an independent molecular origin of sporadic NF2 wild-type MM. Furthermore, these findings suggest that genetic characterization of each lesion is warranted in sporadic MM.

scholarly journals Dorsal spinal epidural psammomatous meningioma in an adult male

2016 ◽  
Vol 7 (01) ◽  
pp. 125-127 ◽  
Author(s):  
Sharad Pandey ◽  
Kulwant Singh ◽  
Vivek Sharma ◽  
Amrita Ghosh ◽  
Saurabh Suman
Keyword(s):  
Differential Diagnosis ◽  
Adult Male ◽  
Dorsal Spine ◽  
Who Grade ◽  
Grade Ii ◽  
Spinal Meningiomas ◽  
Spinal Epidural ◽  
Dorsal Spinal ◽  
Grade Iii ◽  
Extradural Meningioma

ABSTRACTMeningiomas are benign in nature and arise from the arachnoid cells. They are mostly situated in the intracranial compartment, whereas spinal meningiomas are rare. Approximately, in 10% of cases, an extradural component is seen but an exclusively extradural meningioma is quite uncommon. However, WHO Grade II (atypical) and Grade III (anaplastic) tumors can behave aggressively. We reported a case of purely extradural psammomatous meningioma in an adult male affecting the dorsal spine although uncommon meningiomas should be included in the differential diagnosis of extradural intraspinal masses.

scholarly journals MNG-07 A CASE OF TRANSFORMED ANAPLASTIC MENINGIOMA IN 18 YEARS

2019 ◽  
Vol 1 (Supplement_2) ◽  
pp. ii36-ii36
Author(s):  
Yu Fujii ◽  
Toshihiro Ogiwara ◽  
Daisuke Yamazaki ◽  
Kohei Nagamine ◽  
Tetsuyoshi Horiuchi
Keyword(s):  
Malignant Transformation ◽  
Histopathological Diagnosis ◽  
Ki 67 ◽  
Who Grade ◽  
Anaplastic Meningioma ◽  
Sagittal Sinus ◽  
Simpson Grade ◽  
Perifocal Edema ◽  
Consciousness Disturbance ◽  
Surgical Manipulation

Abstract INTRODUCTION Although 95% of meningiomas are benign tumor (WHO grade I), they rarely exist malignant transformation. It is well known that WHO II or III meningiomas rapidly grow and recurrent frequently. However, there are no common sense about duration of malignant transformation between previous reports. Here we report a case of anaplastic meningioma which showed malignant transformation in 18 years. CASE The patient was 77-year-old man. He was pointed out as having a 20-mm mass in the left occipital convexity at brain checkup 19 years before. After 6 months, the mass was totally removed (Simpson grade I) at previous hospital. Histopathological diagnosis revealed meningioma with psammoma body, whose Ki-67 index was below 1 %. Postoperative course was good and periodic follow up was abandoned. The patient presented with consciousness disturbance and right hemiparesis after 18 years from the first operation. CT scan showed a 30-mm mass with intratumoral hemorrhage and perifocal edema in the left occipital lesion. Tumor removal was performed. The border of the tumor was clear and the macroscopic view was compatible with meningioma at intraoperative findings. The tumor was removed as much as possible, but partially remained which were extended to superior sagittal sinus (Simpson grade III). Histopathological findings were anaplastic meningioma with sarcoid change, whose Ki-67 index was 70%. His neurological abnormality improved postoperatively. DISCUSSION In the previous report, anaplastic meningioma is a rare tumor, which is 1% of whole meningioma. The rate of malignant transformation is reported 12–38%. The cause of malignant transformation is reported to be radiation therapy, mechanical stimulation by surgical manipulation, viral infection, and loss of chromosome. Although recurrence rate is low at total resection of meningioma, there rarely exists malignant transformation after a long period of time like our case.

WHO grade 1 meningioma recurrence: Are location and Simpson grade still relevant?

2016 ◽  
Vol 141 ◽  
pp. 117-121 ◽  
Author(s):  
Mathew J. Gallagher ◽  
Michael D. Jenkinson ◽  
Andrew R. Brodbelt ◽  
Samantha J. Mills ◽  
Emmanuel Chavredakis
Keyword(s):  
Who Grade ◽  
Simpson Grade ◽  
Meningioma Recurrence

scholarly journals Benign meningiomas (WHO Grade I) with atypical histological features: correlation of histopathological features with clinical outcomes

2016 ◽  
Vol 124 (1) ◽  
pp. 106-114 ◽  
Author(s):  
Ariel E. Marciscano ◽  
Anat O. Stemmer-Rachamimov ◽  
Andrzej Niemierko ◽  
Mykol Larvie ◽  
William T. Curry ◽  
...  
Keyword(s):  
Prognostic Significance ◽  
Risk Groups ◽  
World Health ◽  
Who Grade ◽  
Simpson Grade ◽  
Atypical Features ◽  
Additional Surgery ◽  
Increased Risk ◽  
Grade Ii ◽  
Health Organization

OBJECT World Health Organization (WHO) Grade I (benign) meningiomas with atypical features may behave more aggressively than similarly graded tumors without atypical features. Here, the prognostic significance of atypical features in benign meningiomas was determined. METHODS Data from patients diagnosed with WHO Grade I benign meningiomas per the 2007 WHO criteria and who underwent surgery between 2002 and 2012 were retrospectively reviewed. Patients were stratified by the absence or presence of 1 to 2 atypical features with review of the clinical and histological factors. RESULTS A total of 148 patients met the inclusion criteria (n = 77 with atypia; n = 71 without atypia). The median follow-up duration after pathological diagnosis was 37.5 months. Thirty patients had progression/recurrence (P/R) after initial treatment, and 22 (73%) of 30 patients with P/R had 1–2 atypical features. The presence of atypical features was significantly associated with P/R (p = 0.03) and independent of the MIB-1 labeling index. The 1-year and 5-year actuarial rates of P/R were 9.6% versus 1.4% and 30.8% versus 13.8% fortumors with and without atypical features, respectively. Higher Simpson grade resection (II–IV vs I) was associated with the increased risk of P/R (p < 0.001). Stratification of patients into low-risk (Simpson Grade I), intermediate-risk (Simpson Grade II–IV with no atypical features), and high-risk groups (Simpson Grade II–IV with atypical features) was significantly correlated with increased risk of P/R (p < 0.001). CONCLUSIONS Patients with benign meningiomas with atypical features and those undergoing Simpson Grade II–IV resection are at significantly increased risk of P/R. Patients with these features may benefit from the consideration of additional surgery and/or radiation therapy.

scholarly journals Correlations between preoperative clinical factors and treatment outcome of spinal meningiomas – A retrospective study of a series of 31 cases

2021 ◽  
Vol 12 ◽  
pp. 236
Author(s):  
Atanas Davarski ◽  
Borislav Kitov ◽  
Georgi Apostolov ◽  
Ivo Kehayov ◽  
Rumyana Stoyanova
Keyword(s):  
Retrospective Study ◽  
Neurological Deficit ◽  
Motor Deficits ◽  
Clinical Factors ◽  
Total Resection ◽  
Simpson Grade ◽  
Initial Symptoms ◽  
Spinal Meningiomas ◽  
Outcome Of Surgery

Background: The purpose of the current study is to identify the correlations between the most important preoperative clinical factors and the outcome of surgery of spinal meningiomas (SM). Methods: We performed a retrospective analysis of the medical history, clinical, paraclinical, neuroimaging, and surgical protocol data in 31 patients with SM who underwent surgical resection at our institution from January 2011 to July 2020. The degree of resection was assessed on the Simpson scale. The modified McCormick scale was used to monitor the effect and outcome of treatment at admission, discharge, and at further follow-up. Results: The average age of the patients was 65 years (37-78). Vertebral pain and motor deficits were the most common initial symptoms that occurred in 26 (89.6%) and 29 (93.5%) patients, respectively. Sphincter disorders were found in 9 (29%) patients. Total resection (Simpson Grade I – II) was achieved in 29 patients (93.5%). We achieved a favorable outcome (McCormick Gr. I to III) in 93.3% of patients. The degree of the neurological deficit (P = 0.026) and the presence of sphincter disorders (P = 0.009) were the preoperative clinical factors that most significantly correlated with the outcome of treatment. Conclusion: The outcome from the surgical treatment of SM correlated significantly with the degree of the preoperative neurological deficit. Therefore, patients presenting with more severe symptoms are expected to have worse outcomes.

scholarly journals Radiogenomics and Radiomics in Liver Cancers

Diagnostics ◽  
2018 ◽  
Vol 9 (1) ◽  
pp. 4 ◽  
Author(s):  
Aman Saini ◽  
Ilana Breen ◽  
Yash Pershad ◽  
Sailendra Naidu ◽  
M. Knuttinen ◽  
...  
Keyword(s):  
Clinical Decision Making ◽  
Clinical Information ◽  
Clinical Decision ◽  
Molecular Profile ◽  
Imaging Features ◽  
Imaging Data ◽  
Prognostic Information ◽  
Cross Sectional ◽  
Related Field ◽  
Liver Cancers

Radiogenomics is a computational discipline that identifies correlations between cross-sectional imaging features and tissue-based molecular data. These imaging phenotypic correlations can then potentially be used to longitudinally and non-invasively predict a tumor’s molecular profile. A different, but related field termed radiomics examines the extraction of quantitative data from imaging data and the subsequent combination of these data with clinical information in an attempt to provide prognostic information and guide clinical decision making. Together, these fields represent the evolution of biomedical imaging from a descriptive, qualitative specialty to a predictive, quantitative discipline. It is anticipated that radiomics and radiogenomics will not only identify pathologic processes, but also unveil their underlying pathophysiological mechanisms through clinical imaging alone. Here, we review recent studies on radiogenomics and radiomics in liver cancers, including hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and metastases to the liver.

Sign in / Sign up

Export Citation Format

Share Document