scholarly journals Diffuse astrocytoma myb or mybl1 altered

2021 ◽  
Author(s):  
Francesco Buemi
Keyword(s):  
Diffuse Astrocytoma

scholarly journals EPID-09. QUANTIFYING SOCIAL DETERMINANTS OF HEALTH AMONG GLIOMA PATIENTS

2020 ◽  
Vol 22 (Supplement_2) ◽  
pp. ii80-ii80
Author(s):  
Angelica Hutchinson ◽  
Alexandria Marshall ◽  
Fang-Chi Hsu ◽  
Kathryn Weaver ◽  
Alisha DeTroye ◽  
...  
Keyword(s):  
Health Risk ◽  
Social Determinants Of Health ◽  
Social Determinants ◽  
Active Treatment ◽  
Economic Education ◽  
Neighborhood Environment ◽  
Determinants Of Health ◽  
Risk Scores ◽  
Diffuse Astrocytoma ◽  
Modifiable Factors

Abstract BACKGROUND Social determinants of health (SDH) are modifiable factors that contribute to health outcomes. Despite studies linking SDHs with cervical, ovarian, and prostate cancer outcomes, few studies have explored SDHs in glioma patients. We conducted a cross-sectional survey to characterize and contextualize SDHs in glioma patients by community income, rural/urban residence, and treatment status. METHODS Two validated instruments: PRAPARE (Protocol for responding to and assessing patents’ assets risks and experiences) and AHC (accountable health communities instrument) quantified SDHs; along with study-specific supplemental questions. Risk scores were calculated and combined into an overall and domain-specific (economic, education, neighborhood environment, social context, and healthcare) SDH risk, with a higher score being indicative of higher SDH risk. Scores were compared between low-income (LIC) vs high-income (HIC) communities (defined by median household income), urban vs rural (defined by zip code), and active treatment vs surveillance (determined by patient medical record) using Wilcoxon rank-sum test. RESULTS 100 glioma patients were enrolled: mean age 53 years (range: 22–78); 49% male; 18% oligodendroglioma, 34% diffuse astrocytoma, 38% glioblastoma, 10% other glioma; 68% resided in LICs, 27% in rural zip codes, and 51% were on active treatment. Overall, SDH risk scores were low (mean= 4.43-out-of-38). Scores in the healthcare domain were the highest. Compared to patients from LICs, patients from HICs had higher healthcare risk scores (p< 0.05). Surveillance patients had higher overall SDH risk on the AHC than patients in active treatment (p< 0.05), with age being a confounder. In multivariable analysis, younger age, and astrocytoma histology were associated with higher social health risk. CONCLUSION Glioma patients report relatively few SDH risk factors on standardized instruments designed for general clinic populations. The higher health risk observed in patients in HICs and higher AHC risk for those in surveillance will be further explored in planned qualitative analysis.

scholarly journals Molecular diagnostics helps to identify distinct subgroups of spinal astrocytomas

2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Annamaria Biczok ◽  
Felix L. Strübing ◽  
Julia M. Eder ◽  
Rupert Egensperger ◽  
Oliver Schnell ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Molecular Markers ◽  
Prognostic Significance ◽  
The Elderly ◽  
Molecular Profile ◽  
Diffuse Astrocytoma ◽  
Molecular Alterations ◽  
High Grade Astrocytoma ◽  
Dismal Prognosis ◽  
Few Data

AbstractPrimary spinal cord astrocytomas are rare, hence few data exist about the prognostic significance of molecular markers. Here we analyze a panel of molecular alterations in association with the clinical course. Histology and genome sequencing was performed in 26 spinal astrocytomas operated upon between 2000 and 2020. Next-generation DNA/RNA sequencing (NGS) and methylome analysis were performed to determine molecular alterations. Histology and NGS allowed the distinction of 5 tumor subgroups: glioblastoma IDH wildtype (GBM); diffuse midline glioma H3 K27M mutated (DMG-H3); high-grade astrocytoma with piloid features (HAP); diffuse astrocytoma IDH mutated (DA), diffuse leptomeningeal glioneural tumors (DGLN) and pilocytic astrocytoma (PA). Within all tumor entities GBM (median OS: 5.5 months), DMG-H3 (median OS: 13 months) and HAP (median OS: 8 months) showed a fatal prognosis. DMG-H3 tend to emerge in adolescence whereas GBM and HAP develop in the elderly. HAP are characterized by CDKN2A/B deletion and ATRX mutation. 50% of PA tumors carried a mutation in the PIK3CA gene which is seemingly associated with better outcome (median OS: PIK3CA mutated 107.5 vs 45.5 months in wildtype PA). This exploratory molecular profiling of spinal cord astrocytomas allows to identify distinct subgroups by combining molecular markers and histomorphology. DMG-H3 tend to develop in adolescence with a similar dismal prognosis like GBM and HAP in the elderly. We here describe spinal HAP with a distinct molecular profile for the first time.

scholarly journals NI-19 Use of 11C-methionine PET for decision of discontinuation of adjuvant chemotherapy with temozolomide

2020 ◽  
Vol 2 (Supplement_3) ◽  
pp. ii14-ii14
Author(s):  
Takaaki Beppu ◽  
Yuichi Sato ◽  
Toshiaki Sasaki ◽  
Kazunori Terasaki ◽  
Kuniaki Ogasawara
Keyword(s):  
Adjuvant Chemotherapy ◽  
Small Sample Size ◽  
Standardized Uptake Value ◽  
Progression Free Survival ◽  
Residual Tumor ◽  
Small Sample ◽  
Tumor Type ◽  
Diffuse Astrocytoma ◽  
Significant Difference ◽  
Met Pet

Abstract Background: The aim was to clarify whether positron emission tomography with 11C-methyl-L-methionine (met-PET) is useful to decide on discontinuation of TMZ-adjuvant therapy in patients with residual diffuse astrocytic tumor. Methods: Subjects were 44 patients with residual tumor comprising 17 with IDH1-mutant diffuse astrocytoma (DA), 13 with IDH1-mutant anaplastic astrocytoma (AA), and 14 with IDH1-wild glioblastoma (GB). All patients received TMZ-adjuvant chemotherapy (median, 12 courses), and whether to discontinue or continue TMZ-adjuvant chemotherapy was decided on the basis of the tumor-to-normal ratio in standardized uptake value from met-PET (T/N); patients with T/N < 1.6 immediately discontinued TMZ, and patients with T/N > 1.6 were either to continued or discontinued TMZ. Progression-free survival (PFS) was compared between patients with T/N > 1.6 and T/N < 1.6 in each tumor type. Median observation period was 434 days after met-PET scanning. Results: The number of patient who underwent recurrence was 10 in DA, 7 in AA, and 11 in GB. All patients showing T/N > 1.6 underwent tumor recurrence. PFS was significantly longer in patients with T/N < 1.6 than T/N > 1.6 in DA and AA (p < 0.01 in both types), but was no significant difference between 2 groups in GB (p = 0.06). Sixteen of 17 patients (94%) in DA and AA showed recurrence from residual tumor, whereas 4 of 11 patients (36%) in GB showed recurrent tumor at remote regions which were different from residual tumor. Conclusions: The present study suggested that met-PET is beneficial to decide to discontinue adjuvant chemotherapy with TMZ in patients with residual tumors of DA and AA, but not useful for patients with GB. Reasons for unsuccessful results in GB might have been small sample size, failure of establishing the cut off value in T/N, recurrences at remote regions where not be assessed by met-PET.

scholarly journals CSIG-13. TRPM7 INDUCES TUMORIGENESIS AND STEMNESS THROUGH NOTCH ACTIVATION IN GLIOMA

2020 ◽  
Vol 22 (Supplement_2) ◽  
pp. ii30-ii30
Author(s):  
Jingwei Wan ◽  
Alyssa Guo ◽  
Mingli Liu
Keyword(s):  
Notch Signaling ◽  
Glioma Cell ◽  
Glioma Cells ◽  
Inhibitory Effect ◽  
Notch Signaling Pathway ◽  
Normal Brain ◽  
Diffuse Astrocytoma ◽  
Notch1 Signaling ◽  
Signaling Activation ◽  
Proliferation And Invasion

Abstract Our group found that the inhibitory effect of TRPM7 on proliferation and invasion of human glioma cell is mediated by multiple mechanisms. TRPM7 regulates miR-28-5p expression, which suppresses cell proliferation and invasion in glioma cells by targeting Ras-related protein Rap1b. In particular, our group found that TRPM7 channels regulate glioma stem cell (GSC) growth/proliferation through STAT3 and Notch signaling. However, which Notch component(s) is crucial for its activity regulated by TRPM7, and its relationship with other GSC markers, such as CD133 and ALDH1, remain unclear. In the current project, we elucidate the mechanisms of TRMP7’s regulation of Notch signaling pathway that contribute to the development and progression of glioma and maintenance of self-renewal and tumorigenicity of GSC using multiple glioma cell lines (GC) with different molecular subtypes and GSCs derived from the GC lines. 1) We first analyzed TRPM7 expression using the Oncomine database (https://www.oncomine.org) and found that the TRPM7 mRNA expression is significantly increased in anaplastic astrocytoma, diffuse astrocytoma, and GBM patients compared to that in normal brain tissue controls. 2) TRPM7 is expressed in GBM, and its channel activity is correlated with Notch1 activation. Inhibition of TRPM7 downregulates Notch1 signaling, while upregulation of TRPM7 upregulates Notch1 signaling. 3) GSC markers, CD133 and ALDH1, are correlated with TRPM7 in GBM. 4) Targeting TRPM7 suppresses the growth and proliferation of glioma cells through G1/S arrests and apoptosis of glioma cells. 5) Targeting Notch1 suppresses the TRPM7-induced growth and proliferation of glioma cells, as well as the expression of GSC markers CD133 and ALDH1. In summary, TRPM7 is responsible for sustained Notch signaling activation, enhanced expression of GSC markers, and regulation of glioma stemness, which contribute to malignant glioma cell growth and invasion. Notch1 and ligand DII4 are key components that contribute GSC stemness.

scholarly journals Molecular Landscape for Malignant Transformation in Diffuse Astrocytoma

2021 ◽  
Author(s):  
Thara Tunthanathip ◽  
Surasak Sangkhathat ◽  
Kanet Kanjanapradit
Keyword(s):  
Malignant Transformation ◽  
Extent Of Resection ◽  
Low Grade ◽  
Diffuse Astrocytoma ◽  
Continuous Variables ◽  
Isocitrate Dehydrogenase 1 ◽  
Molecular Alteration ◽  
Exact Test ◽  
Molecular Abnormalities ◽  
Biological Variables

Abstract Background Malignant transformation (MT) of low-grade gliomas changes dramatically the natural history to poor prognosis. Currently, factors associated with MT of gliomas have been inconclusive, in particular, diffuse astrocytoma (DA). Objective The present study aims to explore the molecular abnormalities related to MT in the same patients with different MT stages. Methods Twelve specimens from five DA patients with MT were genotyped using next-generation sequencing (NGS) to identify somatic variants in different stages of MT. We used cross-tabulated categorical biological variables and compared the mean of continuous variables to assess for association with MT. Results Ten samples succussed to perform NGS from one male and four females, with ages ranging from 28 to 58 years. The extent of resection was commonly a partial resection following postoperative temozolomide with radiotherapy in 25% of cases. For molecular findings, poly-T-nucleotide insertion in isocitrate dehydrogenase 1 (IDH1) was significantly related to MT as a dose–response relationship (Mann–Whitney's U test, p = 0.02). Also, mutations of KMT2C and GGT1 were frequently found in the present cohort, but those did not significantly differ between the two groups using Fisher's exact test. Conclusion In summary, we have identified a novel relationship between poly-T insertion polymorphisms that established the pathogenesis of MT in DA. A further study should be performed to confirm the molecular alteration with more patients.

scholarly journals HGG-02. ADOLESCENT AND YOUNG ADULT (AYA) GLIOMA WITH BRAF V600E-MUTANTATION

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii344-iii344
Author(s):  
Yui Kimura ◽  
Yukitomo Ishi ◽  
Yuko Watanabe ◽  
Yoshiko Nakano ◽  
Shigeru Yamaguchi ◽  
...  
Keyword(s):  
Braf Inhibitor ◽  
Clinical Information ◽  
Early Recurrence ◽  
Pleomorphic Xanthoastrocytoma ◽  
Adolescent And Young Adult ◽  
Braf V600e ◽  
Low Grade ◽  
Diffuse Astrocytoma ◽  
Genetic Features ◽  
Epithelioid Glioblastoma

Abstract BACKGROUND Biological features of pediatric glioma differ significantly from those of adult glioma, and limited data are available on those of AYA patients. Here, we focused on AYA patients with glioma, especially those harboring BRAF V600E mutation, and investigated their clinical and genetic features. METHOD: We retrospectively analyzed AYA patients with brain tumors harboring BRAF V600E, who were treated in two hospitals in Japan. RESULTS Clinical information was available for 14 patients. The median age at diagnosis was 25 years (range: 15–38). Five patients were diagnosed with glioblastoma (GBM), including one epithelioid type. These patients were over 25. Although one patient with GBM died of the disease 6.9 years after initial diagnosis, the remaining patients were alive. Two patients were alive without recurrence at 38 and 51 months after the treatment. The patient with epithelioid glioblastoma experienced early recurrence. The remaining nine patients (64%) were diagnosed with low-grade glioma, including ganglioglioma, pilocytic astrocytoma, diffuse astrocytoma, oligodendroglioma, pleomorphic xanthoastrocytoma, and polymorphous low-grade neuroepithelial tumor of the young. No patients died of the disease, and four patients are alive without recurrence after initial operation without adjuvant treatment. Two patients are (epithelioid glioblastoma and ganglioglioma) currently undergoing treatment with a BRAF inhibitor for recurrent tumors. DISCUSSION Although the number of this study is limited, our study suggested that the prognosis of AYA patients with BRAF-V600E positive GBM may not be as dismal as that of children or adults.

Diffuse astrocytoma arising within a demyelinating plaque

2016 ◽  
Vol 128 (2) ◽  
pp. 373-375
Author(s):  
David Ryan Ormond ◽  
B. K. Kleinschmidt-DeMasters
Keyword(s):  
Diffuse Astrocytoma

DIAGNOSTIC ACCURACY OF SQUASH CYTOLOGY OF ASTROCYTOMA

2021 ◽  
pp. 57-58
Author(s):  
M. S. Lalitha ◽  
A. G. Krishnaveni ◽  
A. Vijayalakshmi
Keyword(s):  
Central Nervous System ◽  
Cost Effective ◽  
Rapid Diagnosis ◽  
Accurate Diagnosis ◽  
Intracranial Tumour ◽  
Diffuse Astrocytoma ◽  
Squash Preparation ◽  
Central Nervous System Tumours ◽  
Extent Of Surgery ◽  
Haematoxylin And Eosin Stain

BACKGROUND: Primary Central nervous system tumours occupies less than 2% of overall human cancers in adults. The accurate diagnosis of intracranial tumour is necessary for therapeutic and prognostic purpose. Intraoperative smear cytology provides a rapid diagnosis which helps the neurosurgeon for immediate decision regarding the extent of surgery. To Objectives: determine the accuracy of squash preparation, by comparing it with histopathological sections and analysing the cytomorphological features of astrocytoma This was both retrospective and prospective study. We receive Methods: d nineteen radiologically and clinically suspected Astrocytoma in saline with xatives. Crush smear were made and stained with rapid Haematoxylin and Eosin. The corresponding biopsy materials were xed in 10% neutral buffered formalin and submitted for tissue processing. Staining was done with routine Haematoxylin and Eosin stain. The cytomorphologicalfeatures of these tumours were correlated with histopathological sections. In our study, we received Results: nineteen radiologically and clinically suspected Astrocytoma , tissue of all the tumours were soft and easy to smear . Glioblastomamultiforme was the most commonly encounterd tumor amomgneuroepithelial tumor constituting about 42.1% followed by diffuse astrocytoma (36.8%), WHOgrade II and IV tumors of astrocytoma were commonly encountered in ourstudy. Astrocytoma was common in males than females with majority of them fall in 5 th decade. we got 94.7% correlation between squash cytology and histopathology. Squash cytology is Conclusion: simple,rapid, accurate and cost effective diagnostic tool for Astrocytoma

Molecular Alterations in Pediatric Low-Grade Gliomas That Led to Death

2021 ◽  
Author(s):  
Jared T Ahrendsen ◽  
Claire Sinai ◽  
David M Meredith ◽  
Seth W Malinowski ◽  
Tabitha M Cooney ◽  
...  
Keyword(s):  
Braf V600e ◽  
Molecular Characteristics ◽  
Low Grade ◽  
Diffuse Astrocytoma ◽  
Term Survival ◽  
Pten Loss ◽  
Low Grade Gliomas ◽  
Molecular Alterations ◽  
Idh1 R132h ◽  
Poor Outcomes

Abstract Pediatric low-grade gliomas (PLGGs) have excellent long-term survival, but death can occasionally occur. We reviewed all PLGG-related deaths between 1975 and 2019 at our institution: 48 patients were identified; clinical data and histology were reviewed; targeted exome sequencing was performed on available material. The median age at diagnosis was 5.2 years (0.4–23.4 years), at death was 13.0 years (1.9–43.2 years), and the overall survival was 7.2 years (0.0–33.3 years). Tumors were located throughout CNS, but predominantly in the diencephalon. Diagnoses included low-grade glioma, not otherwise specified (n = 25), pilocytic astrocytoma (n = 15), diffuse astrocytoma (n = 3), ganglioglioma (n = 3), and pilomyxoid astrocytoma (n = 2). Recurrence occurred in 42/48 cases, whereas progression occurred in 10. The cause of death was direct tumor involvement in 31/48 cases. Recurrent drivers included KIAA1549-BRAF (n = 13), BRAF(V600E) (n = 3), NF1 mutation (n = 3), EGFR mutation (n = 3), and FGFR1-TACC1 fusion (n = 2). Single cases were identified with IDH1(R132H), FGFR1(K656E), FGFR1 ITD, FGFR3 gain, PDGFRA amplification, and mismatch repair alteration. CDKN2A/B, CDKN2C, and PTEN loss was recurrent. Patients who received only chemotherapy had worse survival compared with patients who received radiation and chemotherapy. This study demonstrates that PLGG that led to death have diverse molecular characteristics. Location and co-occurring molecular alterations with malignant potential can predict poor outcomes.

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