scholarly journals DNA methylation-based classification of central nervous system tumours

Nature ◽  
2018 ◽  
Vol 555 (7697) ◽  
pp. 469-474 ◽  
Author(s):  
David Capper ◽  
David T. W. Jones ◽  
Martin Sill ◽  
Volker Hovestadt ◽  
Daniel Schrimpf ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Central Nervous System ◽  
Nervous System ◽  
Central Nervous System Tumours

The 2016 revision of the WHO Classification of Central Nervous System Tumours: retrospective application to a cohort of diffuse gliomas

2017 ◽  
Vol 137 (1) ◽  
pp. 181-189 ◽  
Author(s):  
Te Whiti Rogers ◽  
Gurvinder Toor ◽  
Katharine Drummond ◽  
Craig Love ◽  
Kathryn Field ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Who Classification ◽  
Central Nervous System Tumours ◽  
Diffuse Gliomas

scholarly journals PATH-21. CLINICAL UTILITY OF DNA METHYLATION PROFILING FOR DIAGNOSIS OF CHALLENGING CENTRAL NERVOUS SYSTEM TUMORS: THE TORONTO EXPERIENCE

2019 ◽  
Vol 21 (Supplement_6) ◽  
pp. vi147-vi147
Author(s):  
Shirin Karimi ◽  
Jeffrey Zuccato ◽  
Yasin Mamatjan ◽  
Sheila Mansouri ◽  
Suganth Suppiah ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Central Nervous System ◽  
Nervous System ◽  
Clinical Utility ◽  
Cns Tumors ◽  
Cns Tumor ◽  
Dna Methylation Profiling ◽  
Diffuse Gliomas ◽  
Methylation Profiling

Abstract The update on the WHO classification of central nervous system (CNS) tumors incorporated molecular signatures for a more accurate diagnosis. Recently, DKFZ has demonstrated the utility of DNA methylation profiling(MP) for molecular classification of CNS tumors. We performed a prospective clinical study over the last three years to evaluate the clinical utility ofDNA MP on FFPE samples of 66 challenging CNS tumor cases using online DKFZ classifier. Eleven samples were excluded due to low tumor DNA content or low calibration(predictive) scores(CS)< 0.3.DNA MP confirmed the original pathology diagnoses in 15(27%)cases. The integrated molecular diagnoses were changed in 38/55(70%) including establishment of a new diagnostic entity, change in molecular signature and subtyping. TheWHO grades were changed in 16(27%) of the tumors; about two-thirds resulted in upgrading. We detected non-canonical IDH mutations in 9 diffuse gliomas and the CNV plots revealed false positive FISH results for 1p/19q co-deletion in two diffuse gliomas. The CNV plots contributed to the final diagnosis in 40(72%) patients. The molecular subtypes of medulloblastoma, ependymoma and glioblastoma subclasses were determined in 36(65%) cases. Seventy-five percent of cases with confirmation of initial diagnosis or change in molecular diagnosis had CS > 0.5, among which 51% had a CS >0.9. The median and range CS of cases with new diagnostic entity and confirmed cases were 0.86(0.37–0.99) and 0.98(0.42–0.99), respectably. Furthermore, we detected higher CS in IDH-mutant gliomas in comparison to glioblastoma IDH-wild type(P=0.04). We also observed lower CS in mesenchymal glioblastoma in comparison to other subclasses. The MGMT promoter methylation was determined in 17/20(85%) glioblastoma cases. While the DKFZ group established CS of 0.9 as a cut-off for matching to methylation classes, our findings suggest lower threshold values in challenging CNS tumor cases. Our experience indicates clinical utility of MP of challenging CNS tumors as a reliable ancillary diagnostic tool in routine neuropathology practice.

scholarly journals Characteristic of Central Nervous System Tumours from 2011-2015: A Single Institution Study

Medicinus ◽  
2018 ◽  
Vol 6 (2) ◽  
Author(s):  
Febrihardita Dwinovitch ◽  
Nadya Aisyah Widowati ◽  
Erna Kristiani
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Frontal Region ◽  
Neurological Deficits ◽  
Pathology Report ◽  
Histologic Type ◽  
Central Nervous System Tumours ◽  
Cns Tumours

<p>Background: Central nervous system (CNS) tumours affect the quality of life of patients since its neurological deficits. Data from Globocan 2012 reveals that there are 256,000 cases of CNS tumour. Epidemiology of the CNS tumours is very important for diagnosis and treatment, but data in Indonesia is still not fully reported.<br />Objective: The aim of this study was to determine the exact amount of the incidence, histologic type of the tumour and the characteristic of patient in our institution.<br />Methods: This is an observational study, all pathology report of CNS tumours that underwent surgery at Siloam Hospitals Lippo Village from 2011 until 2015. We classified based on gender, age, location of the tumour, and the histologic type according to WHO Classification of CNS tumour 2007.<br />Results and Discussion: There were 913 patients of CNS tumours from 2011 until 2015. The most common tumours were meningioma (32.96%) followed by glioma (21.35%) and pituitary adenoma (16.10%). In meningioma, most occur in women, 41 - 50 years old, located in the frontal region and the most common subtype is transitional meningioma. In glioma, most occur in men, 31 - 40 years old, located in the frontal region and the most common subtype is glioblastoma. In adenoma hipofisis, most occur in men, 41 - 50 years old.<br />Conclusion: The result of this study was accordance with the literature so this data could be a reference for further research.</p>

scholarly journals High-grade astrocytoma with piloid features (HGAP): the Charité experience with a new central nervous system tumor entity

2021 ◽  
Author(s):  
Katja Bender ◽  
Eilís Perez ◽  
Mihaela Chirica ◽  
Julia Onken ◽  
Johannes Kahn ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Central Nervous System ◽  
Nervous System ◽  
World Health ◽  
Central Nervous System Tumor ◽  
High Grade ◽  
Thoracic Spinal Cord ◽  
High Grade Astrocytoma ◽  
Tumor Entity

Abstract Purpose High-grade astrocytoma with piloid features (HGAP) is a recently described brain tumor entity defined by a specific DNA methylation profile. HGAP has been proposed to be integrated in the upcoming World Health Organization classification of central nervous system tumors expected in 2021. In this series, we present the first single-center experience with this new entity. Methods During 2017 and 2020, six HGAP were identified. Clinical course, surgical procedure, histopathology, genome-wide DNA methylation analysis, imaging, and adjuvant therapy were collected. Results Tumors were localized in the brain stem (n = 1), cerebellar peduncle (n = 1), diencephalon (n = 1), mesencephalon (n = 1), cerebrum (n = 1) and the thoracic spinal cord (n = 2). The lesions typically presented as T1w hypo- to isointense and T2w hyperintense with inhomogeneous contrast enhancement on MRI. All patients underwent initial surgical intervention. Three patients received adjuvant radiochemotherapy, and one patient adjuvant radiotherapy alone. Four patients died of disease, with an overall survival of 1.8, 9.1, 14.8 and 18.1 months. One patient was alive at the time of last follow-up, 14.6 months after surgery, and one patient was lost to follow-up. Apart from one tumor, the lesions did not present with high grade histology, however patients showed poor clinical outcomes. Conclusions Here, we provide detailed clinical, neuroradiological, histological, and molecular pathological information which might aid in clinical decision making until larger case series are published. With the exception of one case, the tumors did not present with high-grade histology but patients still showed short intervals between diagnosis and tumor progression or death even after extensive multimodal therapy.

Multidisciplinary treatment for central nervous system tumours with nitrosourea compounds

1978 ◽  
Vol 41 (4) ◽  
pp. 287-299 ◽  
Author(s):  
P. Paoletti ◽  
G. Robustelli della Cuna ◽  
R. Knerich ◽  
M. R. Strada
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Multidisciplinary Treatment ◽  
Central Nervous System Tumours
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