An epilepsy‐associated glioneuronal tumor with mixed morphology harboring <i>FGFR1</i> mutation

Yamada, Seiji; Nobusawa, Sumihito; Yamazaki, Tatsuya; Teranishi, Takao; Watanabe, Sadayoshi; Murayama, Kazuhiro; Ohba, Shigeo; Okabe, Asako; Sakurai, Kouhei; Urano, Makoto; Tsukamoto, Tetsuya; Yokoo, Hideaki; Hirose, Yuichi; Abe, Masato

doi:10.1111/pin.12799

Cited by 8 publications

(6 citation statements)

References 18 publications

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“…The most common genetic marker associated with RGNT is the PIK3CA mutation. 28 , 29 , 51 , 74 , 84 , 85 FGFR1 mutations have also been implicated in tumor pathogenesis 51 , 84–86 as well as IDH1 , 40 KIAA1549/BRAF gene fusion, 20 PPP1R1A , 51 and RNF21 . 51 …”

Section: Discussionmentioning

confidence: 99%

Rosette-forming glioneuronal tumor: an illustrative case and a systematic review

Wilson

Chakraborty

Pelargos

et al. 2020

Neuro-Oncology Advances

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Background Rosette-forming glioneuronal tumors (RGNTs) are rare, low-grade, primary central nervous system tumors first described in 2002 by Komori et al. RGNTs were initially characterized as WHO grade I tumors typically localized to the fourth ventricle. Although commonly associated with an indolent course, RGNTs have the potential for aggressive behavior. Methods A comprehensive search of PubMed and Web of Science was performed through November 2019 using the search term “rosette-forming glioneuronal tumor.” Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were followed. English, full-text case reports and series with histopathological confirmation were included. Patient demographics, presentations, magnetic resonance imaging (MRI) features, tumor location, treatment, and follow-up of all 130 cases were extracted. Results : Case Report:A 19-year-old man with a history of epilepsy and autism presented with acute hydrocephalus. MRI scans from 2013 and 2016 demonstrated unchanged abnormal areas of cortex in the left temporal lobe with extension into the deep gray-white matter. On presentation to our clinic in 2019, the lesion demonstrated significant progression. The patient’s tumor was identified as RGNT, WHO grade I, Systematic Review:130 patients were identified across 80 studies. Conclusion RGNT has potential to transform from an indolent tumor to a tumor with more aggressive behavior. The results of our systematic review provide insight into the natural history and treatment outcomes of these rare tumors

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Section: Discussionmentioning

confidence: 99%

Rosette-forming glioneuronal tumor: an illustrative case and a systematic review

Wilson

Chakraborty

Pelargos

et al. 2020

Neuro-Oncology Advances

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“…DLGNT is characterized by the proliferation of relatively monomorphic OLCs 1–4 . However, OLC itself is not a specific feature of DLGNT, and is detected in a wide variety of gliomas and glioneuronal tumors, such as PA, DNT, RGNT, and oligodendroglioma 16–20 . OLCs were certainly identified in this case as well, but floating neuron‐like structures and neurocytic rosette‐like structures, resembling DNT and RGNT, were also observed, respectively.…”

Section: Discussionmentioning

confidence: 66%

“…[1][2][3][4] However, OLC itself is not a specific feature of DLGNT, and is detected in a wide variety of gliomas and glioneuronal tumors, such as PA, DNT, RGNT, and oligodendroglioma. [16][17][18][19][20] OLCs were certainly identified in this case as well, but floating neuron-like structures and neurocytic rosette-like structures, resembling DNT and RGNT, were also observed, respectively. In addition, atypical astrocytes, eosinophilic granular bodies, and Rosenthal fibers, which have been reported to be rare or absent in DLGNT, 1,2 were also observed in this case.…”

Section: Discussionmentioning

confidence: 79%

DNA methylation array analysis for diffuse leptomeningeal glioneuronal tumor with conspicuous hypothalamic mass. A case report

et al. 2022

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Diffuse leptomeningeal glioneuronal tumor (DLGNT) is a rare glioneuronal neoplasm newly included in the 2016 World Health Organization Classification of Tumors of the Central Nervous System. Owing to the wide spectrum of its histopathological and radiological features, accurate diagnosis can be challenging. Recently, molecular testing including DNA methylation array has been introduced with the possibility of improving diagnostic accuracy and contributing to the subtyping especially for brain tumors with ambiguous histology. Two molecularly distinct subtypes of DLGNT have been reported: methylation class-1 (MC-1) with an indolent clinical course and MC-2, the latter aggressive. Herein, we report a case of a 14-year-old girl with a conspicuous hypothalamic mass lesion and diffuse leptomeningeal enhancement on magnetic resonance imaging. Biopsy specimens obtained from the hypothalamic lesion endoscopically were mainly composed of oligodendrocyte-like cells. However, it was difficult to make a definite diagnosis from these non-specific histological findings. Thus, DNA methylation array analysis was performed additionally by using formalin-fixed, paraffinembedded tissue, resulting in a diagnosis of "MC-1 subtype of DLGNT" with a high calibrated score (0.99). Consequently, she was treated conservatively, with neither progression of the tumor nor aggravation of symptoms for the next 12 months. It was concluded that DNA methylation array analysis for DLGNT, a rare glioneuronal tumor, could be a powerful tool not only for accurate diagnosis but also decision-making in selecting the best treatment.

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“…The elderly PLNTY in this report showed unusual positivity of EMA, suggesting an intermediate nature between LGG, MYB , and PLNTY. There have been several reports of “mixed”, “composite”, or “collision” glioma/glioneuronal tumors 32–35 . These glioma and glioneuronal tumors could be interpreted as members of a single spectrum with diverse MAPK alterations, exhibiting multiple phenotypes 36 …”

Section: Discussionmentioning

confidence: 99%

Pediatric and elderly polymorphous low‐grade neuroepithelial tumor of the young: Typical and unusual case reports and literature review

et al. 2022

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Polymorphous low-grade neuroepithelial tumor of the young (PLNTY), one of the pediatric-type diffuse lowgrade gliomas, is characterized by a diffuse infiltrating pattern of oligodendroglioma-like tumor cells showing CD34 positivity and harbors mitogen-activated protein kinase (MAPK) alteration, such as vRAF murine sarcoma viral oncogene homolog B1 (BRAF) p.V600E or fibroblast growth factor fusion genetically. It occurs mainly in pediatric and adolescents with seizures due to the dominant location of the temporal lobe. However, there have been a few cases of PLNTY in adult patients, suggesting the wide range of this tumor spectrum. Here, we describe two cases of PLNTY, one in a 14-year-old female and the other in a 66-year-old female. The pediatric tumor showed typical clinical course and histopathology with BRAF p.V600E mutation, whereas the elderly tumor was unusual because of non-epileptic onset clinically and ependymal differentiation histopathologically harboring KIAA1549-BRAF fusion. There might be unusual but possible PLNTY, as in our elderly case. We also compared typical pediatric and unusual elderly tumors by reviewing the literature.

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An epilepsy‐associated glioneuronal tumor with mixed morphology harboring FGFR1 mutation

Cited by 8 publications

References 18 publications

Rosette-forming glioneuronal tumor: an illustrative case and a systematic review

Rosette-forming glioneuronal tumor: an illustrative case and a systematic review

DNA methylation array analysis for diffuse leptomeningeal glioneuronal tumor with conspicuous hypothalamic mass. A case report

Pediatric and elderly polymorphous low‐grade neuroepithelial tumor of the young: Typical and unusual case reports and literature review

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