Publications by authors named "Ismael Lombardi"
Article Synopsis
- * The study reports on two cases, an atypical choroid plexus papilloma in a 3-year-old and a choroid plexus carcinoma in a 6-month-old, utilizing whole-exome sequencing to analyze genetic variants and copy-number alterations in both tumors.
- * Findings revealed a tier II variant and specific copy-number gains and losses in the aCPP, while the CPC showed a pathogenic germline variant linked to Li-Fraumeni syndrome, highlighting a lack of common
Background/aim: Breast cancer 1, early onset (BRCA1) gene is expressed in the cells of the breast and other tissues, where it plays a role in cell-cycle regulation, transcription, repair of DNA double-stranded breaks, ubiquitination, transcriptional regulation as well as other functions, such as cell response regulation to mitogenic signals triggered by estrogens. Considering that meningioma shows greater tumor growth during pregnancy, can express estrogen receptors and proliferate in response to estrogenic stimulation, the hypothesis that this type of tumor may share molecular mechanisms that involve exposure to estrogen should be investigated. Therefore, the aim of the present study was to investigate the BRCA1 gene methylation profile in meningioma.
View Article and Find Full Text PDFA pilomyxoid astrocytoma is a recently described tumor that occurs predominantly in the hypothalamic-chiasmatic region and is rarely found elsewhere. It has similar features as pilocytic astrocytomas, but has distinct histological characteristics and a poorer prognosis. A pilomyxoid astrocytoma is an aggressive tumor, and increased awareness is necessary with a suspect case.
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