Glioneuronal tumours in neurofibromatosis type 1: MRI-pathological study

Fedi, Marco; Mitchell, L. Anne; Gutmann, David H.; Perry, Arie; Newton, Mark R.; Brodtmann, Amy; Berkovic, Samuel F.

doi:10.1016/j.jocn.2003.10.017

Cited by 22 publications

(16 citation statements)

References 14 publications

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“…Besides presenting with common tumor phenotypes and skin/skeletal abnormalities, these disorders are highly associated with macrocephaly, learning disabilities, mental retardation, and autism (Mbarek et al 1999;Costa et al 2002;Marui et al 2004;Schubbert et al 2007). Although some of the CNS defects are due to the important role of Ras signaling in learning and plasticity (Cui et al 2008), patients can also exhibit developmental malformations that could contribute to neural impairmentfor example, cell heterotopia, cortical lamination defects, and periventricular tumors-indicating a significant function in CNS progenitor cells (Korf et al 1999;Balestri et al 2003;Vivarelli et al 2003;Fedi et al 2004).…”

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confidence: 99%

Spred1, a negative regulator of Ras–MAPK–ERK, is enriched in CNS germinal zones, dampens NSC proliferation, and maintains ventricular zone structure

Phoenix

Temple²

2010

Genes Dev.

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Neural stem cells (NSCs) have great potential for self-renewal, which must be tightly regulated to generate appropriate cell numbers during development and to prevent tumor formation. The Ras-MAPK-ERK pathway affects mitogen-stimulated proliferation, and negative regulators are likely to be important for keeping selfrenewal in check. Sprouty-related protein with an EVH1 domain (Spred1) is a recently discovered negative Ras-MAPK-ERK regulator linked to a neurofibromatosis 1 (NF-1)-like human syndrome; however, its role in CNS development has not been explored. We show that Spred1 is highly enriched in CNS germinal zones during neurogenesis. Spred1 knockdown increases NSC self-renewal and progenitor proliferation cell-autonomously, and overexpression causes premature differentiation. Surprisingly, Spred1 knockdown in vivo in the embryonic mouse forebrain frequently resulted in periventricular heterotopia, developmental abnormalities often associated with mutations in genes in the vesicular trafficking pathway that cause disruption of germinal zones and impair cell migration. In cortical progenitor cells, Spred1 localizes within distinct vesicles, indicating a potential role in transport. Spred1 knockdown gradually leads to disruption of the apical ventricular zone and loss of radial glia alignment. This impairs late neuronal migration, resulting in the formation of periventricular masses. Thus, Spred1 is critical for normal cortical development, as it modulates progenitor self-renewal/proliferation and helps maintain the integrity and organization of germinal zones.[Keywords: Spred1; neural stem cells; self-renewal; MAPK-ERK signaling; periventricular heterotopia] Supplemental material is available at http://www.genesdev.org.

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confidence: 99%

Spred1, a negative regulator of Ras–MAPK–ERK, is enriched in CNS germinal zones, dampens NSC proliferation, and maintains ventricular zone structure

Phoenix

Temple²

2010

Genes Dev.

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“…Partially or completely differentiated glioneuronal tumors such as gangliogliomas and dysembryoplastic neuroepithelial tumors have been infrequently reported in the brain of NF1 patients [13,14,15]. Sporadic gangliogliomas of the spinal cord are rare tumors suitable for total/subtotal resections [6,16].…”

Section: Discussionmentioning

confidence: 99%

Ganglioglioma of the Spinal Cord in Neurofibromatosis Type 1

et al. 2013

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The oncologic involvement of the spinal cord in neurofibromatosis type 1 (NF1) is not a typical feature of the disease. Here, we present a case of ganglioglioma of the spinal cord in a child with NF1 and try to define if this tumor can be considered coincidental or not. A 4-year-old boy affected by NF1 was diagnosed with a spinal cord-enhancing tumor extending from C4 to D3, with a disappearance in the T2 MRI sequences of the cerebrospinal fluid signal. The patient underwent a subtotal resection. The pathological exam revealed a ganglioglioma. To the best of our knowledge, only 1 other case of spinal cord ganglioglioma has been described in an NF1 patient. We suggest considering ganglioglioma in the differential diagnosis of an NF1 patient with a spinal cord tumor due to its favorable survival rate, especially in relation to the anatomical and surgical issues of this tumor that do not always entail a gross total resection.

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“…The most common CNS tumor in NF1 is a pilocytic astrocytoma; nonetheless, a glioneuronal tumor including ganglioglioma is relatively rare [4]. Although glioneuronal tumors are rare, FASI are frequently found in the MR images of patients with NF1.…”

Section: Discussionmentioning

confidence: 99%

“…Although both gangliogliomas and glial hamartomas have been recognized as possible sequelae of NF1 and could be related in terms of glioneuronal maldevelopment in patients with NF1, no somatic NF1 gene mutations have been identified in association with these lesions [4]. To the best of our knowledge, ganglioglioma in the thoracolumbar spinal cord, including the conus medullaris, or even in the spinal cord, concomitant with NF1 has not been reported thus far, and the combined occurrence of these 2 conditions may be purely coincidental and unrelated.…”

Section: Discussionmentioning

confidence: 99%

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Ganglioglioma of the Thoracolumbar Spinal Cord in a Patient with Neurofibromatosis Type 1: A Case Report and Literature Review

Hayashi¹,

Nakada²,

Mohri³

et al. 2011

Pediatr Neurosurg

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Gangliogliomas of the spinal cord are rare, and the conus medullaris is an extremely rare site for their occurrence. The authors present a case in which a ganglioglioma was found in the thoracolumbar spinal cord, including the conus medullaris, of a 5-year-old female patient with neurofibromatosis type 1 (NF1) who presented with paraparesis and urinary disturbance. MRI revealed an intramedullary lesion within the thoracolumbar spinal cord, including the conus medullaris, which was surgically removed. Pathological investigation showed a ganglioglioma consisting of glioneuronal tumor cells. This is the first report to provide a pathological description of a spinal cord ganglioglioma in a patient with NF1. Because gangliogliomas usually have a good prognosis following resection, it is important to clearly distinguish them from other NF1-associated lesions, even though ganglioglioma of the thoracolumbar spinal cord, including the conus medullaris, is an extremely rare condition.

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Glioneuronal tumours in neurofibromatosis type 1: MRI-pathological study

Cited by 22 publications

References 14 publications

Spred1, a negative regulator of Ras–MAPK–ERK, is enriched in CNS germinal zones, dampens NSC proliferation, and maintains ventricular zone structure

Spred1, a negative regulator of Ras–MAPK–ERK, is enriched in CNS germinal zones, dampens NSC proliferation, and maintains ventricular zone structure

Ganglioglioma of the Spinal Cord in Neurofibromatosis Type 1

Ganglioglioma of the Thoracolumbar Spinal Cord in a Patient with Neurofibromatosis Type 1: A Case Report and Literature Review

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