Molecular characterization of histopathological ependymoma variants

Spohn, Michael; Obrecht, Denise; Mynarek, Martin; Thomas, Christian; Hasselblatt, Martin; Dorostkar, Mario M.; Wefers, Annika K.; Frank, Stephan; Monoranu, Camelia‐Maria; Koch, Arend; Witt, Hendrik; Kool, Marcel; Pajtler, Kristian W.; Rutkowski, Stefan; Glatzel, Markus; Schüller, Ulrich

doi:10.1007/s00401-019-02090-0

Cited by 55 publications

(45 citation statements)

References 27 publications

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“…The ependymal classes constituted the known PFA and PFB groups as well as the previously described supratentorial RELA ‐fusion‐positive ependymoma , and three new molecular classes consisting of supratentorial YAP1 ‐fusion‐positive ependymomas, a benign spinal ependymoma class and a class closely related to the histological group of myxopapillary ependymoma . Several series of histologically diagnosed ependymomas that were additionally classified by DNA methylation profiling have demonstrated a high rate of histological misdiagnoses, in particular within histologically diagnosed supratentorial ependymomas or ependymomas of the non‐classical histological subtypes . In contrast, a missed diagnosis of an ependymoma seems to be a rare event .…”

Section: Methylation Profiling Of Established Paediatric Brain Tumourmentioning

confidence: 99%

“…Therefore, for ependymoma the most central role of DNA methylation profiling may be the validation of the histological diagnosis, in particular for supratentorial cases. A second observation from histology validation studies is that a substantial number of cases cannot be molecularly classified yet . This may indicate further rare molecular classes of ependymal tumours not yet established as methylation classes of their own and the requirement for further improvement of DNA methylation‐based classification.…”

Section: Methylation Profiling Of Established Paediatric Brain Tumourmentioning

confidence: 99%

“…DNA methylation profiling offers some guidance for additional molecular testing for ependymomas. In particular the tight association of RELA and YAP1 fusion proteins with certain molecular classes strongly indicates which tumours to test for these gene fusions and in which tumours testing can be omitted . Among ependymomas, recurrent mutations in EZHIP , HIST1H3C , HIST1H2B and H3F3A seem to be specific for PFA ependymomas and thus for other ependymoma classes testing may likely be less relevant .…”

Section: Methylation Profiling Of Established Paediatric Brain Tumourmentioning

confidence: 99%

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Invited Review: DNA methylation‐based classification of paediatric brain tumours

Perez

Capper

2020

Neuropathology Appl Neurobio

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2020) Neuropathology and Applied Neurobiology 46, 28-47 DNA methylation-based classification of paediatric brain tumours DNA methylation-based machine learning algorithms represent powerful diagnostic tools that are currently emerging for several fields of tumour classification. For various reasons, paediatric brain tumours have been the main driving forces behind this rapid development and brain tumour classification tools are likely further advanced than in any other field of cancer diagnostics. In this review, we will discuss the main characteristics that were important for this rapid advance, namely the high clinical need for improvement of paediatric brain tumour diagnostics, the robustness of methylated DNA and the consequential possibility to generate high-quality molecular data from archival formalin-fixed paraffin-embedded pathology specimens, the implementation of a single array platform by most laboratories allowing data exchange and data pooling to an unprecedented extent, as well as the high suitability of the data format for machine learning. We will further discuss the four most central output qualities of DNA methylation profiling in a diagnostic setting (tumour classification, tumour sub-classification, copy number analysis and guidance for additional molecular testing) individually for the most frequent types of paediatric brain tumours. Lastly, we will discuss DNA methylation profiling as a tool for the detection of new paediatric brain tumour classes and will give an overview of the rapidly growing family of new tumours identified with the aid of this technique.

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Section: Methylation Profiling Of Established Paediatric Brain Tumourmentioning

confidence: 99%

Section: Methylation Profiling Of Established Paediatric Brain Tumourmentioning

confidence: 99%

Section: Methylation Profiling Of Established Paediatric Brain Tumourmentioning

confidence: 99%

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Invited Review: DNA methylation‐based classification of paediatric brain tumours

Perez

Capper

2020

Neuropathology Appl Neurobio

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“…Although astroblastoma was included as an initial histopathological diagnosis, ependymoma was the most frequent pathological diagnosis we observed. Indeed, a recent study shows that the diagnosis of supratentorial ependymoma by morphology alone is fraught with challenges, where upwards of 40% did not match to the epigenetic profile including a subset that was in fact HGNET with MN1 alteration 11 . Methylation profiling was consistent with CNS‐HGNET‐ MN1 in 12 of our patients; however, routine clinical application of genome‐wide methylation profiling is challenging, and considering the prevalence of this entity, methods to diagnose CNS‐HGNET‐ MN1 tumors routinely in CLIA‐certified settings are required.…”

Section: Discussionmentioning

confidence: 99%

Treatment response of CNS high‐grade neuroepithelial tumors with MN1 alteration

Baroni

Rugilo

Lubieniecki

et al. 2020

Pediatric Blood & Cancer

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Central nervous system high-grade neuroepithelial tumor with MN1 alteration (CNS HGNET-MN1) is a rare recently described entity. Fourteen CNS HGNET-MN1 patients were identified using genome-wide methylation arrays/RT-PCR across seven institutions. All patients had surgery (gross total resection: 10; subtotal resection: four) as initial management followed by observation alone in three patients, followed by radiotherapy in eight patients (focal: five; craniospinal: two; CyberKnife: one) and systemic chemotherapy in three patients. Seven patients relapsed; five local and two

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“…They are extremely rare as primary intracranial tumours. 16 Myxopapillary ependymoma is far more common in the conus medullaris and filum terminale region than in the brain. However, intracerebral involvement has been described in very rare cases.…”

Section: Microscopic Pathology and Neuroimagingmentioning

confidence: 99%

Intracranial ependymomas: The role of advanced neuroimaging in diagnosis and management

et al. 2021

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Intracranial ependymomas represent a rare subgroup of glial tumours, showing a wide variety of imaging characteristics, often representing a challenging diagnosis for neuroradiologists. Here, we review the most recent scientific Literature on intracranial ependymomas, highlighting the most characteristic computed tomography and magnetic resonance imaging features of these neoplasms, along with epidemiologic data, recent classification aspects, clinical presentation and conventional therapeutic strategies. In addition, we report an illustrative case of an 18-year-old girl presenting with an intracranial supratentorial, anaplastic ependymoma, with the aim of contributing to the existing knowledge and comprehension of this rare tumour.

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Molecular characterization of histopathological ependymoma variants

Cited by 55 publications

References 27 publications

Invited Review: DNA methylation‐based classification of paediatric brain tumours

Invited Review: DNA methylation‐based classification of paediatric brain tumours

Treatment response of CNS high‐grade neuroepithelial tumors with MN1 alteration

Intracranial ependymomas: The role of advanced neuroimaging in diagnosis and management

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