Genetic alterations in a papillary glioneuronal tumor (original) (raw)

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Case report

Claudia Faria

Claudia Faria Departments of Neurosurgery and

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José Miguéns

José Miguéns Departments of Neurosurgery and

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João Lobo Antunes

João Lobo Antunes Departments of Neurosurgery and

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Cândida Barroso

Cândida Barroso Neuropathology, Hospital de Santa Maria; and

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José Pimentel

José Pimentel Neuropathology, Hospital de Santa Maria; and

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Maria Do Carmo Martins

Maria Do Carmo Martins Centro de Investigação de Patobiologia Molecular, Instituto Português de Oncologia de Francisco Gentil, Lisbon, Portugal

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Vasco Moura-Nunes

Vasco Moura-Nunes Centro de Investigação de Patobiologia Molecular, Instituto Português de Oncologia de Francisco Gentil, Lisbon, Portugal

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, and

Lúcia Roque

Lúcia Roque Centro de Investigação de Patobiologia Molecular, Instituto Português de Oncologia de Francisco Gentil, Lisbon, Portugal

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ABSTRACT

✓Papillary glioneuronal tumors (PGNTs) are rare lesions of the central nervous system, and no information exists on the genetic alterations in these neoplasms. The authors report on such a case in a child. Genetic studies revealed that the tumor was characterized by gains and structural alterations involving only chromosome 7 with breakpoints at 7p22. By using comparative genomic hybridization, the authors observed a high-level amplification region at 7p14~q12. Fluorescence in situ hybridization with a probe for EGFR revealed that this gene was not amplified. Similar to other patients with PGNTs, the patient in the present case fared well. From a genetic point of view the data in the present case are in accordance with previous findings of EGFR amplifications as uncommon in low-grade gliomas and gangliogliomas. Recurrent rearrangements of chromosome 7 have been noted in other mixed glioneuronal tumors. The data in this case suggest that genes located at chromosome 7 can also be involved in the pathogenesis of PGNT. In clinical terms it will be especially important to corroborate, through the analysis of further cases, the involvement of the chromosome 7p22 locus, a region where glial and neuronal linked genes (RAC1 and NXPH1) are known to be located.

Abbreviations used in this paper:

CGH = comparative genomic hybridization ; FISH = fluorescence in situ hybridization ; GFAP = glial fibrillary acidic protein ; MR = magnetic resonance ; PGNT = papillary glioneuronal tumor .