Supratentorial clear cell ependymomas with branching capillaries demonstrate characteristic clinicopathological features and pathological activation of nuclear factor-kappaB signaling

Figarella‐Branger, Dominique; Lechapt‐Zalcman, Emmanuèle; Tabouret, Émeline; Jünger, Stephanie T.; Paula, André Maues De; Bouvier, Corinne; Colin, Carole; Jouvet, Anne; Forest, Fabien; Andreiuolo, Felipe; Quintin-Roué, Isabelle; Machet, Marie‐Christine; Heitzmann, Anne; Milin, Serge; Sevestre, Henri; Godfraind, Catherine; Labrousse, François; Métellus, Philippe; Scavarda, Didier; Pietsch, Torsten

doi:10.1093/neuonc/now025

Cited by 70 publications

(49 citation statements)

References 23 publications

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“…RELA fusion‐positive ependymoma has already been included in the last amendment of the WHO classification of brain tumors as a novel, genetically defined disease entity . Most RELA fusion‐positive ependymomas have a characteristic morphological aspect, often displaying clear cells and branching capillaries, although some pleomorphic tumors can also be seen in this group . RELA fusions have been shown to be oncogenic by activation of the NFKB pathway.…”

Section: Introductionmentioning

confidence: 99%

Childhood supratentorial ependymomas with YAP1‐MAMLD1 fusion: an entity with characteristic clinical, radiological, cytogenetic and histopathological features

et al. 2018

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Ependymoma with YAP1-MAMLD1 fusion is a rare, recently described supratentorial neoplasm of childhood, with few cases published so far. We report on 15 pediatric patients with ependymomas carrying YAP1-MAMLD1 fusions, with their characteristic histopathology, immunophenotype and molecular/cytogenetic, radiological and clinical features. The YAP1-MAMLD1 fusion was documented by RT-PCR/ Sanger sequencing, and tumor genomes were studied by molecular inversion probe (MIP) analysis. Significant copy number alterations were identified by GISTIC Brain Pathology 29 (2019) 205-216

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Section: Introductionmentioning

confidence: 99%

Childhood supratentorial ependymomas with YAP1‐MAMLD1 fusion: an entity with characteristic clinical, radiological, cytogenetic and histopathological features

et al. 2018

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“…We have previously shown that anaplastic glioma with 1p19q codeletion can be stratified in three pathological groups predictive of prognosis according to microvascular proliferation and necrosis . CNV events associated with the grouping variable are given in supplemental online Table 7.…”

Section: Resultsmentioning

confidence: 99%

Machine Learning for Better Prognostic Stratification and Driver Gene Identification Using Somatic Copy Number Variations in Anaplastic Oligodendroglioma

Rosenberg¹,

Alentorn²,

Elarouci³

et al. 2018

The Oncologist

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“…In ependymomas, the RELA fusion protein accumulates preferentially in the nucleus of ependymoma cells compared to the wild-type RELA protein, which is sequestered in the cytoplasm of unstimulated controls 13 , indicating pathologic activation of the NF-kB pathway. 14 …”

Section: Discussionmentioning

confidence: 99%

Recurrent SRF-RELA Fusions Define a Novel Subset of Cellular Myofibroma/Myopericytoma

Antonescu

Sung

Zhang

et al. 2017

American Journal of Surgical Pathology

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Cellular myofibroblastic tumors other than desmoid-type fibromatosis are often diagnostically challenging due to their relative rarity, lack of known genetic abnormalities, and expression of muscle markers which may be confused with sarcomas with myogenic differentiation. In this study we investigate the molecular alterations of a group of cellular myofibroblastic lesions showing morphologic overlap with the myofibroma and myopericytoma spectrum for better sub-classification. Two index cases were studied by paired-end RNA sequencing for potential fusion gene discovery. One chest wall soft tissue tumor in a 3 month-old girl case showed a SRF-C3orf62 fusion, while the other, a forearm lesion in an 8 year-old female, showed a SRF-RELA fusion. Further screening of 42 cellular examples of myofibroma/myopericytoma by FISH identified additional 8 cases with recurrent SRF gene rearrangements, 6 of them showing identical SRF-RELA fusions. The cohort was composed of 7 females and 3 males, with a wide age range of 3 months–63 years (mean 17). All tumors showed a densely packed growth of oval to spindle cells with fibrillary eosinophilic cytoplasm, arranged either in intersecting fascicles or with a distinct nested pattern around a rich vascular network. Despite the dense cellularity and variable mitotic activity none of the lesions displayed nuclear pleomorphism or necrosis. All tumors showed co-expression for SMA and desmin, in most cases with a strong and diffuse pattern of staining, while myogenin was consistently negative. No distant metastases were seen in the few cases with follow-up information. A control group of 34 well-characterized myofibroblastic tumors, including 10 typical myofibromas and 3 myopericytomas, were also investigated for SRF gene abnormalities by FISH and were negative. In summary, we report a subset of cellular variants of myofibroma and myopericytoma showing a smooth muscle-like immunophenotype and harboring recurrent SRF-RELA gene fusions, which mimic sarcomas with myogenic differentiation.

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Supratentorial clear cell ependymomas with branching capillaries demonstrate characteristic clinicopathological features and pathological activation of nuclear factor-kappaB signaling

Cited by 70 publications

References 23 publications

Childhood supratentorial ependymomas with YAP1‐MAMLD1 fusion: an entity with characteristic clinical, radiological, cytogenetic and histopathological features

Childhood supratentorial ependymomas with YAP1‐MAMLD1 fusion: an entity with characteristic clinical, radiological, cytogenetic and histopathological features

Machine Learning for Better Prognostic Stratification and Driver Gene Identification Using Somatic Copy Number Variations in Anaplastic Oligodendroglioma

Recurrent SRF-RELA Fusions Define a Novel Subset of Cellular Myofibroma/Myopericytoma

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