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Article

Molecular profile and clinical features of patients with gliomas using a broad targeted next generation‑sequencing panel

  • Authors:
    • Ourania Romanidou
    • Paraskevi Apostolou
    • Kyriakos Kouvelakis
    • Kyriakos Tsangaras
    • Alexia Eliades
    • Achilleas Achilleos
    • Charalambos Loizides
    • Christos Lemesios
    • Marios Ioannides
    • Elena Kypri
    • George Koumbaris
    • Kyriaki Papadopoulou
    • Athanasios Papathanasiou
    • Georgios Rigakos
    • Ioannis Xanthakis
    • Florentia Fostira
    • Vassiliki Kotoula
    • George Fountzilas
    • Philippos C. Patsalis
  • View Affiliations / Copyright

    Affiliations: Department of Medicine, Medical Oncology Unit, Giannitsa General Hospital, 58100 Giannitsa, Greece, Molecular Diagnostics Laboratory, InRASTES, National Centre for Scientific Research Demokritos, 15341 Athens, Greece, Section of Biostatistics, Hellenic Cooperative Oncology Group, Data Office, 11526 Athens, Greece, NIPD Genetics Ltd., 2409 Nicosia, Republic of Cyprus, Laboratory of Molecular Oncology, Hellenic Foundation for Cancer Research/Aristotle University of Thessaloniki, 54006 Thessaloniki, Greece, Third Department of Medical Oncology, Hygeia Hospital, 15123 Athens, Greece, Oncology Department, European Interbalkan Medical Center, 55535 Thessaloniki, Greece, Department of Pathology, School of Health Sciences, Faculty of Medicine, Aristotle University of Thessaloniki, 54006 Thessaloniki, Greece
  • Article Number: 38
    |
    Published online on: December 8, 2022
       https://doi.org/10.3892/ol.2022.13624
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Abstract

Gliomas are the most common malignant primary brain tumors characterized by poor prognosis. The genotyping of tumors using next generation sequencing (NGS) platforms enables the identification of genetic alterations that constitute diagnostic, prognostic and predictive biomarkers. The present study investigated the molecular profile of 32 tumor samples from 32 patients with high‑grade gliomas by implementing a broad 80‑gene targeted NGS panel while reporting their clinicopathological characteristics and outcomes. Subsequently, 14 of 32 tumor specimens were also genotyped using a 55‑gene NGS panel to validate the diagnostic accuracy and clinical utility of the extended panel. The median follow‑up was 19.2 months. In total, 129 genetic alterations including 33 structural variants were identified in 38 distinct genes. Among 96 variants (single nucleotide variants and insertions and deletions), 38 were pathogenic and 58 variants of unknown clinical significance. TP53 was the most frequently mutated gene, followed by PTEN and IDH1 genes. Glioma patients with IDH1 mutant tumors were younger and had significantly longer overall survival compared to patients with wild‑type IDH1 tumors. Similarly, tumors with TP53 mutations were more likely observed in younger patients with glioma. Subsequently, a comparison of mutational profiles of samples analyzed by both panels was also performed. Implementation of the comprehensive pan‑cancer and the MOL panels resulted in the identification of 37 and 15 variants, respectively. Of those, 13 were common. Comprehensive pan‑cancer panel identified 24 additional variants, 22 of which were located in regions that were not targeted by the MOL panel. By contrast, the MOL panel identified two additional variants. Overall, the present study demonstrated that using an extended tumor profile assay instead of a glioma‑specific tumor profile panel identified additional genetic changes that may be taken into consideration as potential therapeutic targets for glioma diagnosis and molecular classification.
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Copy and paste a formatted citation
Spandidos Publications style
Romanidou O, Apostolou P, Kouvelakis K, Tsangaras K, Eliades A, Achilleos A, Loizides C, Lemesios C, Ioannides M, Kypri E, Kypri E, et al: Molecular profile and clinical features of patients with gliomas using a broad targeted next generation‑sequencing panel. Oncol Lett 25: 38, 2023.
APA
Romanidou, O., Apostolou, P., Kouvelakis, K., Tsangaras, K., Eliades, A., Achilleos, A. ... Patsalis, P.C. (2023). Molecular profile and clinical features of patients with gliomas using a broad targeted next generation‑sequencing panel. Oncology Letters, 25, 38. https://doi.org/10.3892/ol.2022.13624
MLA
Romanidou, O., Apostolou, P., Kouvelakis, K., Tsangaras, K., Eliades, A., Achilleos, A., Loizides, C., Lemesios, C., Ioannides, M., Kypri, E., Koumbaris, G., Papadopoulou, K., Papathanasiou, A., Rigakos, G., Xanthakis, I., Fostira, F., Kotoula, V., Fountzilas, G., Patsalis, P. C."Molecular profile and clinical features of patients with gliomas using a broad targeted next generation‑sequencing panel". Oncology Letters 25.1 (2023): 38.
Chicago
Romanidou, O., Apostolou, P., Kouvelakis, K., Tsangaras, K., Eliades, A., Achilleos, A., Loizides, C., Lemesios, C., Ioannides, M., Kypri, E., Koumbaris, G., Papadopoulou, K., Papathanasiou, A., Rigakos, G., Xanthakis, I., Fostira, F., Kotoula, V., Fountzilas, G., Patsalis, P. C."Molecular profile and clinical features of patients with gliomas using a broad targeted next generation‑sequencing panel". Oncology Letters 25, no. 1 (2023): 38. https://doi.org/10.3892/ol.2022.13624
Copy and paste a formatted citation
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Spandidos Publications style
Romanidou O, Apostolou P, Kouvelakis K, Tsangaras K, Eliades A, Achilleos A, Loizides C, Lemesios C, Ioannides M, Kypri E, Kypri E, et al: Molecular profile and clinical features of patients with gliomas using a broad targeted next generation‑sequencing panel. Oncol Lett 25: 38, 2023.
APA
Romanidou, O., Apostolou, P., Kouvelakis, K., Tsangaras, K., Eliades, A., Achilleos, A. ... Patsalis, P.C. (2023). Molecular profile and clinical features of patients with gliomas using a broad targeted next generation‑sequencing panel. Oncology Letters, 25, 38. https://doi.org/10.3892/ol.2022.13624
MLA
Romanidou, O., Apostolou, P., Kouvelakis, K., Tsangaras, K., Eliades, A., Achilleos, A., Loizides, C., Lemesios, C., Ioannides, M., Kypri, E., Koumbaris, G., Papadopoulou, K., Papathanasiou, A., Rigakos, G., Xanthakis, I., Fostira, F., Kotoula, V., Fountzilas, G., Patsalis, P. C."Molecular profile and clinical features of patients with gliomas using a broad targeted next generation‑sequencing panel". Oncology Letters 25.1 (2023): 38.
Chicago
Romanidou, O., Apostolou, P., Kouvelakis, K., Tsangaras, K., Eliades, A., Achilleos, A., Loizides, C., Lemesios, C., Ioannides, M., Kypri, E., Koumbaris, G., Papadopoulou, K., Papathanasiou, A., Rigakos, G., Xanthakis, I., Fostira, F., Kotoula, V., Fountzilas, G., Patsalis, P. C."Molecular profile and clinical features of patients with gliomas using a broad targeted next generation‑sequencing panel". Oncology Letters 25, no. 1 (2023): 38. https://doi.org/10.3892/ol.2022.13624
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