<i><scp>FGFR</scp>1</i> N546K and <i>H3F3A</i> K27M mutations in a diffuse leptomeningeal tumour with glial and neuronal markers

Dyson, Kyle; Rivera‐Zengotita, Marie; Kresak, Jesse; Weaver, Kristin J.; Stover, Brian; Fort, John; Rahman, Maryam; Pincus, David W.; Sayour, Elias

doi:10.1111/his.12983

Cited by 20 publications

(22 citation statements)

References 17 publications

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“…[5][6][7][8][9][10][11][12][13] Several cases in adults have been reported. 3,8,12 Most common symptoms include nausea and vomiting, 2-4,12-14 headache, [2][3][4][5][6][7]9,11,12,14 seizures, 11,12,15 limbs weakness, 2,4,7,9,11 loss of vision, 9,11 and altered mental state (confusion). 2,8,9 Our patient presented with headache, vomiting, and right eye convergent strabismus.…”

Section: Discussionmentioning

confidence: 99%

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Diffuse Leptomeningeal Glioneuronal Tumor in a 4.5-year-old Girl: A Case Report and Review of the Literature

Gabryś

Kuzaj

Pawełczak

et al. 2020

Journal of Pediatric Neurology

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Diffuse leptomeningeal glioneuronal tumor (DLGNT) is an entity introduced in 2016 World Health Organization classification of tumors of the central nervous system. The tumor occurs very rarely. Due to the lack of specific clinical and radiological features, biopsy is necessary to be performed and histological and immunohistochemical testing is essential to reach the diagnosis. A 4.5-year-old girl presented with a history of headache, vomiting, and right eye convergent squint. Imaging revealed multiple enhancing lesions located supra- and infratentorially and intramedullary. Histopathological examination demonstrated diffused growth of neoplastic cells. Molecular testing revealed KIAA1549-BRAF fusion and the diagnosis of DLGNT was stated.

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Section: Discussionmentioning

confidence: 99%

“…Next-generation sequencing detected BRAF and KIAA1549 gene fusion: KIAA1549 4 -BRAF. 5 BRAF gene was analyzed for point mutations in G466V, G469, Y472, L597V, V600, and D59G codons in exons 11 and 15. No mutations in these fragments were detected.…”

Section: Introductionmentioning

confidence: 99%

Diffuse Leptomeningeal Glioneuronal Tumor in a 4.5-year-old Girl: A Case Report and Review of the Literature

Gabryś

Kuzaj

Pawełczak

et al. 2020

Journal of Pediatric Neurology

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“…Although underlying genetic abnormalities were not detected, there were two reported RGNT cases, one with Noonan syndrome and the other with neurofiburomatosis 1, which were diagnosed based on clinical symptoms . In cases of other mixed neuronal‐glial tumors, FGFR1 mutations were frequent in dysembryoplastic neuroepithelial tumors (DNTs) , and was detected in one case of papillary glioneuronal tumor (PGNT) and one case of diffuse leptomeningial glioneuronal tumor (DLGNT) . Intragenic duplications of the portion of FGFR1 encoding the tyrosine kinase domain were also frequently detected in DNTs , and in one case of ganglioglioma .…”

Section: Discussionmentioning

confidence: 99%

Comprehensive genetic characterization of rosette‐forming glioneuronal tumors: independent component analysis by tissue microdissection

et al. 2017

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A rosette-forming glioneuronal tumor (RGNT) is a rare mixed neuronal-glial tumor characterized by biphasic architecture of glial and neurocytic components. The number of reports of genetic analyses of RGNTs is few. Additionally, the genetic background of the unique biphasic pathological characteristics of such mixed neuronal-glial tumors remains unclear. To clarify the genetic background of RGNTs, we performed separate comprehensive genetic analyses of glial and neurocytic components of five RGNTs, by tissue microdissection. Two missense mutations in FGFR1 in both components of two cases, and one mutation in PIK3CA in both components of one case, were detected. In the latter case with PIK3CA mutation, the additional FGFR1 mutation was detected only in the glial component. Moreover, the loss of chromosome 13q in only the neurocytic component was observed in one other case. Their results suggested that RGNTs, which are tumors harboring two divergent differentiations that arose from a single clone, have a diverse genetic background. Although previous studies have suggested that RGNTs and pilocytic astrocytomas (PAs) represent the same tumor entity, their results confirm that the genetic background of RGNTs is not identical to that of PA.

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“…In a minority of cases, astrocytic features are also seen [2]. Immunohistochemistry studies show positive staining for OLIG2 in 100% of cases with staining for other molecules such as S100, GFAP, synaptophysin, and chromogranin A also present [2,9]. On the molecular level previous studies have shown both 1p19q codeletion at rate of about 20%, however there are no phenotypic differences based on deletion status of this gene [2,10,11].…”

Section: Case Presentationmentioning

confidence: 98%

Diffuse Leptomeningeal Glioneuronal Tumor: Case Report and Review of Literature

J¹,

Netanel²,

Toledano³

et al. 2020

J Pediatr Neurol Neurosci

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In this study, we describe a rare case of disseminated CNS malignancy of childhood. A seven-year-old boy with headache, vomiting and gait disturbances was diagnosed with non-obstructive hydrocephalus and papilledema. Initial MRI revealed no significant findings, however subsequent studies revealed bilateral extradural and leptomeningeal enhancement. Biopsy was eventually obtained with pathology report confirming leptomeningeal oligodendrogliomatosis. We discuss the recent description in literature of this rarely reported diagnosis. This entity primarily affects pediatric patients. It has a unique clincopathological identity, which can be easily mistaken for an inflammatory process. The diagnosis of this tumor can be complicated due to the rather nonspecific clinical presentation and findings on imaging.

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FGFR1 N546K and H3F3A K27M mutations in a diffuse leptomeningeal tumour with glial and neuronal markers

Cited by 20 publications

References 17 publications

Diffuse Leptomeningeal Glioneuronal Tumor in a 4.5-year-old Girl: A Case Report and Review of the Literature

Diffuse Leptomeningeal Glioneuronal Tumor in a 4.5-year-old Girl: A Case Report and Review of the Literature

Comprehensive genetic characterization of rosette‐forming glioneuronal tumors: independent component analysis by tissue microdissection

Diffuse Leptomeningeal Glioneuronal Tumor: Case Report and Review of Literature

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