High frequency of IDH-1 mutation links glioneuronal tumors with neuropil-like islands to diffuse astrocytomas

Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY, 10065, USA, .
Acta Neuropathologica (Impact Factor: 10.76). 07/2011; 122(3):367-9. DOI: 10.1007/s00401-011-0855-6
Source: PubMed
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    ABSTRACT: The term long-term epilepsy associated tumor (LEAT) encompasses lesions identified in patients investigated for long histories (often 2 years or more) of drug-resistant epilepsy. They are generally slowly growing, low grade, cortically based tumors, more often arising in younger age groups and in many cases exhibit neuronal in addition to glial differentiation. Gangliogliomas and dysembryoplastic neuroepithelial tumors predominate in this group. LEATs are further united by cyto-architectural changes that may be present in the adjacent cortex which have some similarities to developmental focal cortical dysplasias (FCD); these are now grouped as FCD type IIIb in the updated International League Against Epilepsy (ILAE) classification. In the majority of cases, surgical treatments are beneficial from both perspectives of managing the seizures and the tumor. However, in a minority, seizures may recur, tumors may show regrowth or recurrence, and rarely undergo anaplastic progression. Predicting and identifying tumors likely to behave less favorably are key objectives of the neuropathologist. With immunohistochemistry and modern molecular pathology, it is becoming increasingly possible to refine diagnostic groups. Despite this, some LEATs remain difficult to classify, particularly tumors with "non-specific" or diffuse growth patterns. Modification of LEAT classification is inevitable with the goal of unifying terminological criteria applied between centers for accurate clinico-pathological-molecular correlative data to emerge. Finally, establishing the epileptogenic components of LEAT, either within the lesion or perilesional cortex, will elucidate the cellular mechanisms of epileptogenesis, which in turn will guide optimal surgical management of these lesions.
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    ABSTRACT: Abstract Glioneuronal tumor with neuropil-like islands is a rare tumor. The first reported cases were localized in the cerebral hemispheres of adults, showed homogeneous histo-pathological features (infiltrating astrocytic growth and neuropil-like islands rimmed by neuronal cells) and had an unfavorable behavior. We report three pediatric cases (one boy and two girls; 4, 6 and 8 years- old). The boy had a cerebral tumor. The girls had a spinal tumor. The younger girl also had multiple posterior fossa lesions. The boy and the older girl underwent a gross total resection. The younger girl underwent a sub-total resection of the spinal tumor; posterior fossa lesions were not surgically treated. The boy and the younger girl are in complete remission at 33 and 24 months after the surgery and the subsequent high-dose chemo-radiotherapy. The older girl had a recurrence which was partially resected. Afterward, she started the previously mentioned chemo-radiotherapy program with an optimal radiological response at 4 months of follow-up. Microscopically, the common denominator was the presence of synaptophysin positive neuropil-like islands. One tumor showed ependymal features (pseudorosettes and punctate EMA immunopositivity). Two tumors had 1p deletion.. 19q deletion, MGMT gene promoter methylation, EGFR amplifications or polysomy, and EGFR, IDH1, IDH2 and TP53 genes mutation analyses resulted negative. In conclusion, glioneuronal tumor with neuropil-like islands can affect children, can arise in the spinal cord and can show ependymal features in its glial component. Finally, a high-dose chemo-radiotherapy program is effective.
    Pediatric and Developmental Pathology 05/2012; 15(5). DOI:10.2350/12-01-1147-OA.1 · 0.87 Impact Factor
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