Histologically defined central nervous system primitive neuro-ectodermal tumours (CNS-PNETs) display heterogeneous DNA methylation profiles and show relationships to other paediatric brain tumour types

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.

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55 Malignant primary brain and other central nervous system tumours diagnosed in the Canadian population from 2009 to 2013

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/cjn.2018.306 ◽

2018 ◽

Vol 45 (S3) ◽

pp. S16-S17

Author(s):

EV Walker ◽

F Davis ◽

Keyword(s):

United States ◽

Central Nervous System ◽

Nervous System ◽

Brain Tumour ◽

Age Distribution ◽

Paediatric Population ◽

The United States ◽

Incidence Rates ◽

Canadian Population ◽

Cns Tumours

The Canadian Brain Tumour Registry (CBTR) project was established in 2016 with the aim of enhancing infrastructure for surveillance and clinical research to improve health outcomes for brain tumour patients in Canada. We present a national surveillance report on malignant primary brain and central nervous system (CNS) tumours diagnosed in the Canadian population from 2009-2013. Patients were identified through the Canadian Cancer Registry (CCR); an administrative dataset that includes cancer incidence data from all provinces/territories in Canada. Cancer diagnoses are coded using the ICD-O3 system. Tumour types were classified by site and histology using The Central Brain Tumour Registry of the United States definitions. Incidence rates (IR) and 95% confidence intervals (CI) were calculated per 100,000 person-years and standardized to the 2011 census population age-distribution. Overall, 12,115 malignant brain and CNS tumours were diagnosed in the Canadian population from 2009-2013 (IR:8.43;95%CI:8.28,8.58). Of these, 6,845 were diagnosed in males (IR:9.72;95%CI:9.49,9.95) and 5,270 in females (IR:7.20;95%CI:7.00,7.39). The most common histology overall was glioblastoma (IR:4.06;95%CI:3.95,4.16). Among those aged 0-19 years, 1,130 malignant brain and CNS tumours were diagnosed from 2009-2013 (IR:3.36;95%CI:3.16,3.56). Of these, 625 were diagnosed in males (IR:3.32;95%CI:3.34,3.92) and 505 in females (IR:3.08;95%CI:2.81,3.36). The most common histology among the paediatric population was pilocytic astrocytoma (IR:0.73;95%CI:0.64,0.83). The presentation will include: IRs for other histologies, the geographic distribution of cases and a comparison between Canada and the United States.

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