AI Article Synopsis

  • Glioblastoma is the most common and aggressive primary brain tumor, making diagnosis difficult due to its genetic variability and poor prognosis.
  • A complex case study utilized multiple cytogenomic methods to identify key genetic markers, revealing classical glioblastoma characteristics and distinct pathological clones.
  • The study suggests an integrated approach for diagnosis, focusing on detecting genetic alterations to potentially improve patient outcomes in terms of diagnosis, prognosis, and treatment predictions.

Article Abstract

Glioblastoma is the commonest primary malignant brain tumor, with a very poor prognosis and short overall survival. It is characterized by its high intra- and intertumoral heterogeneity, in terms of both the level of single-nucleotide variants, copy number alterations, and aneuploidy. Therefore, routine diagnosis can be challenging in some cases. We present a complicated case of glioblastoma, which was characterized with five cytogenomic methods: interphase fluorescence hybridization, multiplex ligation-dependent probe amplification, comparative genomic hybridization array and single-nucleotide polymorphism, targeted gene panel, and whole-genome sequencing. These cytogenomic methods revealed classical findings associated with glioblastoma, such as a lack of and mutations, gain of chromosome 7, and loss of chromosome 10. At least three pathological clones were identified, including one with whole-genome duplication, and one with loss of 1p and suspected loss of 19q. Deletion and mutation of the gene were detected with numerous breakends on 17p and 20q. Based on these findings, we recommend a combined approach to the diagnosis of glioblastoma involving the detection of copy number alterations, mutations, and aneuploidy. The choice of the best combination of methods is based on cost, time required, staff expertise, and laboratory equipment. This integrated strategy could contribute directly to tangible improvements in the diagnosis, prognosis, and prediction of the therapeutic responses of patients with brain tumors.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11554483PMC
http://dx.doi.org/10.3389/pore.2024.1611875DOI Listing

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