Desmoplastic infantile ganglioglioma. Morphological, immunohistochemical and genetic features

Cerdá-Nicolás, Miguel; López‐Ginés, Concha; Gil-Benso, Rosario; Donat, J; Fernández‐Delgado, Rafael; Pellı́n, Antonio; Löpez‐Guerrero, José Antonio; Roldán, Pedro; Barberá, José

doi:10.1111/j.1365-2559.2005.02275.x

Cited by 25 publications

(11 citation statements)

References 13 publications

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“…In each case, either a normal karyotype or nonclonal abnormalities were described; these included alterations involving 1p, 5q, 9p, 11q, 14q, 17p, and 22q (3,12). One DIG showed loss of 8p22-pter, and 1 DIA had gain of 13q21 (3,12). The only 3 cases studied with comparative genomic hybridization did not show consistent gains or losses (3,16).…”

Section: Discussionmentioning

confidence: 99%

Genome-Wide DNA Copy Number Analysis of Desmoplastic Infantile Astrocytomas and Desmoplastic Infantile Gangliogliomas

Gessi

Mühlen

Hammes

et al. 2013

Journal of Neuropathology & Experimental Neurology

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Little is known about the molecular features of desmoplastic infantile ganglioglioma (DIG) and desmoplastic infantile astrocytoma (DIA). We performed a genome-wide DNA copy number analysis in combination with a multiplex ligation-dependent probe amplification-based analysis of copy number changes of candidate genes in 4 DIAs and 10 DIGs. Molecular inversion probe (MIP) assay showed that large chromosomal alterations were rare among DIG and DIA. Focal recurrent genomic losses were observed in chromosome regions such as 5q13.3, 21q22.11, and 10q21.3 in both DIA and DIG. Principal component analysis did not show any significant differences between the molecular profiles of DIG and DIA, and a hierarchical cluster analysis did not clearly separate the 2 tumor groups according to their molecular profiles. In 6 cases, gain of genomic material at 7q31 (corresponding to MET gene) was found in multiplex ligation-dependent probe amplification (MLPA) analysis. Furthermore, two cases showed gain at 4q12, and a single case showed BRAF mutation. In agreement with previous analyses, this study demonstrates the absence of consistent recurrent chromosomal alterations in DIA and DIG and overall rarity of the BRAF mutation in these tumors. Notably, these results suggest that DIA and DIG represent a histologic spectrum of the same tumor rather than 2 separate entities.

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Section: Discussionmentioning

confidence: 99%

Genome-Wide DNA Copy Number Analysis of Desmoplastic Infantile Astrocytomas and Desmoplastic Infantile Gangliogliomas

Gessi

Mühlen

Hammes

et al. 2013

Journal of Neuropathology & Experimental Neurology

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Section: Discussionmentioning

confidence: 99%

“…6,17,26,27,38,39 While DIG and DIA are considered to be the same entity clinically, 14,39 they differ histologically in that the neoplastic cells in DIAs appear restricted to astrocytes, while DIGs include a neuronal component or variable maturity DIAs. 6,38,39 Distinguishing DIG and DIA requires demonstration of a neoplastic neuronal component. 6,17,22,38,39 Significant progress has been made in understanding the molecular and genetic pathways underlying DIA/DIGs, yet the genetic and molecular pathways and the cellular origin of these tumors is not yet established.…”

Section: Discussionmentioning

confidence: 99%

“…6,38,39 Distinguishing DIG and DIA requires demonstration of a neoplastic neuronal component. 6,17,22,38,39 Significant progress has been made in understanding the molecular and genetic pathways underlying DIA/DIGs, yet the genetic and molecular pathways and the cellular origin of these tumors is not yet established. 26,29 A few studies have investigated this issue by interrogating known tumor suppressor genes and oncogenes using immunohistochemistry, chromogenic in situ hybridization, or genome-wide DNA copy number analysis with multiplex ligation-dependent probe amplification.…”

Section: Discussionmentioning

confidence: 99%

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Novel suprasellar location of desmoplastic infantile astrocytoma and ganglioglioma: a single institution’s experience

Naylor¹,

Wohl²,

Raghunathan³

et al. 2018

Journal of Neurosurgery: Pediatrics

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OBJECTIVEThe aim of this study was to describe the clinical presentation, imaging appearance, and differential outcomes based on tumor location in 7 patients with desmoplastic infantile astrocytoma and desmoplastic infantile gangliogliomas (DIA/DIG).METHODSData of 7 patients with histopathology-proven DIA/DIGs and preoperative imaging were retrospectively reviewed, and age, sex, clinical presentation, imaging characteristics, tumor location, surgical procedure, postoperative morbidity, and overall mortality were recorded.RESULTSTwo subgroups of patients with DIA/DIGs were found to exist based on whether their tumor was located in the cerebral hemispheres or suprasellar region. Nearly all patients presented with rapidly enlarging head circumference regardless of tumor location. However, ocular abnormalities, including nystagmus and preference for downward gaze, were specific for patients with suprasellar disease. These patients experienced significant postoperative complications and had poor long-term outcomes. In contrast, patients with hemispheric tumors underwent more extensive resection than patients with suprasellar tumors, had uneventful postoperative courses, and had no documented long-term comorbidities.CONCLUSIONSPostoperative course and long-term outcome for patients with DIA/DIGs were correlated to the anatomical location and radiographic appearance of their tumor at presentation, despite having histologically and molecularly indistinguishable, WHO grade I tumors.

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“…Nevertheless, there are reports of DIG in adolescents and young adults, with the oldest reported patient being 25 years of age [3, 4]. There is a slight male predominance [5].…”

Section: Discussionmentioning

confidence: 99%

Desmoplastic Infantile Ganglioglioma

Alexiou¹,

Stefanaki

Sfakianos³

et al. 2008

Pediatr Neurosurg

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Desmoplastic infantile gangliogliomas (DIG) are rare intracranial tumors that typically occur in infants and involve the cerebral cortex and the leptomeninges. They are usually very large in size and partially cystic. Total resection, if possible, is the treatment of choice, without the need for further adjuvant therapy. We report 2 cases of DIG. In both cases, computed tomography and magnetic resonance imaging revealed supratentorial mixed cystic and solid tumors, which presented as large cystic components with intense contrast enhancement of a mural nodule. The tumors were completely removed by surgery. The histological diagnosis was DIG. On follow-up examinations no tumor recurrence was noted.

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Desmoplastic infantile ganglioglioma. Morphological, immunohistochemical and genetic features

Cited by 25 publications

References 13 publications

Genome-Wide DNA Copy Number Analysis of Desmoplastic Infantile Astrocytomas and Desmoplastic Infantile Gangliogliomas

Genome-Wide DNA Copy Number Analysis of Desmoplastic Infantile Astrocytomas and Desmoplastic Infantile Gangliogliomas

Novel suprasellar location of desmoplastic infantile astrocytoma and ganglioglioma: a single institution’s experience

Desmoplastic Infantile Ganglioglioma

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