Olinda Rebelo

A palette of copy number changes in long-term epilepsy-associated tumors (LEATs) have been reported, but the data are heterogeneous. To better understand the molecular basis underlying the development of LEATs, we performed array-comparative genomic hybridization analysis to investigate chromosomal imbalances across the entire genome in 8 cases of LEATs. A high number of aberrations were found in 4 patients, among which deletions predominated. Both whole-chromosome and regional abnormalities were observed, including monosomy 19, deletion of 1p, deletions of 4p, 12p, and 22q, and gain of 20p. The common altered regions are located mainly on chromosomes 19 and 4p, identifying genes potentially involved in biological processes and cellular mechanisms related to tumorigenesis. Our study highlights new genomic alterations and reinforces others previously reported, offering new molecular insights that may help in diagnosis and therapeutic decision-making.

Chordoid glioma is a rare tumor of the third ventricle whose imaging features are difficult to distinguish from other more common lesions in this location. There are only 83 cases described so far in the literature. Although gross total resection (GTR) is the treatment of choice, immediate postoperative mortality with this approach can be as high as 29%, and morbidity among survivors can reach 67%. We report a case of a male patient of advanced age, with a third ventricle mass lesion, who presented with a progressive right temporal hemianopia. Imaging was compatible with craniopharyngioma, meningioma or even metastasis. Chordoid glioma was not considered in the differential diagnosis. The patient underwent surgery and GTR was achieved. There were no postoperative complications, and the patient was discharged from the hospital three weeks later. Unexpectedly, two days afterwards, he suffered a major brainstem hemorrhagic stroke and, unfortunately, died. O glioma cordoide é um tumor raro do terceiro ventrículo, e as suas características imagiológicas são difíceis de distinguir de outras lesões mais comuns nesta localização. Até a data presente, existem apenas 83 casos de gliomas cordoides descritos na literatura. A remoção macroscópica total destes tumores deve ser o tratamento de escolha; no entanto, a mortalidade pós-operatória imediata pode chegar aos 29%, e a morbilidade pode atingir os 67% entre os sobreviventes. Nós descrevemos o caso de um homem idoso com uma lesão tumoral no terceiro ventrículo, que se manifestou com uma hemianopsia temporal direita progressiva. Os exames de imagem eram compatíveis com craniofaringioma, meningioma ou até metástase. O glioma cordoide não foi considerado como uma das hipóteses no diagnóstico diferencial inicial. O paciente foi submetido a cirurgia, tendo-se obtido a remoção macroscópica total. Não houve qualquer complicação no período pós-operatório, e o paciente teve alta hospitalar após três semanas. Inesperadamente, dois dias após a alta clínica, o paciente sofreu um AVC hemorrágico do tronco cerebral, e acabou por falecer.