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Clinical exome next‑generation sequencing panel for hereditary pheochromocytoma and paraganglioma diagnosis

  • Authors:
    • Beatrice Melli
    • Vincenza Ylenia Cusenza
    • Sandra Martinelli
    • Federica Castiglione
    • Loretta Fornaciari
    • Andrea Palicelli
    • Luca Braglia
    • Enrico Farnetti
    • Aurelio Negro
    • Simonetta Rosato
    • Andrea Frasoldati
    • Maicol Baldini
    • Chiara Grasselli
    • Davide Nicoli
  • View Affiliations / Copyright

    Affiliations: Clinical and Experimental Medicine PhD Program, University of Modena and Reggio Emilia, I‑41125 Modena, Italy, Molecular Pathology, Azienda USL‑IRCCS di Reggio Emilia, I‑42123 Reggio Emilia, Italy, Pathology Unit, Azienda USL‑IRCCS di Reggio Emilia, I‑42123 Reggio Emilia, Italy, Statistic Unit, Clinical Trial Center, SOC Infrastructure, Research and Statistic, Azienda USL‑IRCCS di Reggio Emilia, I‑42123 Reggio Emilia, Italy, Cardiovascular Medicine Unit‑Hypertension Unit, Azienda USL‑IRCCS di Reggio Emilia, I‑42123 Reggio Emilia, Italy, Clinical Genetics Unit, Azienda USL‑IRCCS di Reggio Emilia, I‑42123 Reggio Emilia, Italy, Endocrinology Unit, Azienda USL‑IRCCS di Reggio Emilia, I‑42123 Reggio Emilia, Italy
    Copyright: © Melli et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 34
    |
    Published online on: December 18, 2024
       https://doi.org/10.3892/etm.2024.12784
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Abstract

Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors with an annual incidence of ~2 cases per million worldwide. The hereditary form is more likely to present in younger patients. To date, PPGL is considered a complex pathology that is difficult to diagnose. The present study aimed to improve the molecular diagnosis and other driver mutations related to PPGLs using TruSight One clinical exome panel (Illumina, Inc.). The clinical protocol used involved examining 28 patients with suspicion of genetic alterations as the cause of PPGLs. The variants of genes commonly associated with PPGLs (RET, FH, VHL, SDHA, SDHB, SDHC, SDHD, NF1, MAX, HIF2A, TMEM127 and TP53) were filtered across the panel. The libraries were sequenced on a MiSeq instrument (Illumina, Inc.) and the result was ≥20X coverage on 95% of the target regions in the panel, calculated by averaging the mean coverage for each exon. The results of sequencing detected 7% of pathogenic variants in the 18‑40 years age subgroup and 11% in the 41‑59 years age subgroup, whereas no pathogenic/likely pathogenic variants were identified in patients ≥60 years old. The identification of a germline mutation in patients with apparently sporadic PPGLs could lead to an early diagnosis of multiple or more aggressive tumors, or other neoplastic syndromes, in patients. Furthermore, this information may improve the development of targeted primary and secondary prevention programs tailored to these high‑risk groups.
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Copy and paste a formatted citation
Spandidos Publications style
Melli B, Cusenza VY, Martinelli S, Castiglione F, Fornaciari L, Palicelli A, Braglia L, Farnetti E, Negro A, Rosato S, Rosato S, et al: Clinical exome next‑generation sequencing panel for hereditary pheochromocytoma and paraganglioma diagnosis. Exp Ther Med 29: 34, 2025.
APA
Melli, B., Cusenza, V.Y., Martinelli, S., Castiglione, F., Fornaciari, L., Palicelli, A. ... Nicoli, D. (2025). Clinical exome next‑generation sequencing panel for hereditary pheochromocytoma and paraganglioma diagnosis. Experimental and Therapeutic Medicine, 29, 34. https://doi.org/10.3892/etm.2024.12784
MLA
Melli, B., Cusenza, V. Y., Martinelli, S., Castiglione, F., Fornaciari, L., Palicelli, A., Braglia, L., Farnetti, E., Negro, A., Rosato, S., Frasoldati, A., Baldini, M., Grasselli, C., Nicoli, D."Clinical exome next‑generation sequencing panel for hereditary pheochromocytoma and paraganglioma diagnosis". Experimental and Therapeutic Medicine 29.2 (2025): 34.
Chicago
Melli, B., Cusenza, V. Y., Martinelli, S., Castiglione, F., Fornaciari, L., Palicelli, A., Braglia, L., Farnetti, E., Negro, A., Rosato, S., Frasoldati, A., Baldini, M., Grasselli, C., Nicoli, D."Clinical exome next‑generation sequencing panel for hereditary pheochromocytoma and paraganglioma diagnosis". Experimental and Therapeutic Medicine 29, no. 2 (2025): 34. https://doi.org/10.3892/etm.2024.12784
Copy and paste a formatted citation
x
Spandidos Publications style
Melli B, Cusenza VY, Martinelli S, Castiglione F, Fornaciari L, Palicelli A, Braglia L, Farnetti E, Negro A, Rosato S, Rosato S, et al: Clinical exome next‑generation sequencing panel for hereditary pheochromocytoma and paraganglioma diagnosis. Exp Ther Med 29: 34, 2025.
APA
Melli, B., Cusenza, V.Y., Martinelli, S., Castiglione, F., Fornaciari, L., Palicelli, A. ... Nicoli, D. (2025). Clinical exome next‑generation sequencing panel for hereditary pheochromocytoma and paraganglioma diagnosis. Experimental and Therapeutic Medicine, 29, 34. https://doi.org/10.3892/etm.2024.12784
MLA
Melli, B., Cusenza, V. Y., Martinelli, S., Castiglione, F., Fornaciari, L., Palicelli, A., Braglia, L., Farnetti, E., Negro, A., Rosato, S., Frasoldati, A., Baldini, M., Grasselli, C., Nicoli, D."Clinical exome next‑generation sequencing panel for hereditary pheochromocytoma and paraganglioma diagnosis". Experimental and Therapeutic Medicine 29.2 (2025): 34.
Chicago
Melli, B., Cusenza, V. Y., Martinelli, S., Castiglione, F., Fornaciari, L., Palicelli, A., Braglia, L., Farnetti, E., Negro, A., Rosato, S., Frasoldati, A., Baldini, M., Grasselli, C., Nicoli, D."Clinical exome next‑generation sequencing panel for hereditary pheochromocytoma and paraganglioma diagnosis". Experimental and Therapeutic Medicine 29, no. 2 (2025): 34. https://doi.org/10.3892/etm.2024.12784
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