Case Report: The revelation of a new pathogenic variant in the POT1 gene in a patient with a pediatric high-grade glioma and a renal cell carcinoma - Takeaways - MDSpire

Case Report: The revelation of a new pathogenic variant in the POT1 gene in a patient with a pediatric high-grade glioma and a renal cell carcinoma

  • By

  • Selene Cipri

  • Antonella Cacchione

  • Annalisa Serra

  • Giada Del Baldo

  • Evelina Miele

  • Lucia Pedace

  • Sara Patrizi

  • Federica D’Antonio

  • Emanuele Agolini

  • Antonio Novelli

  • Alessandro Crocoli

  • Arianna Bertocchini

  • Andrea Carai

  • Sabina Barresi

  • Sabrina Rossi

  • Rita Alaggio

  • Francesca Diomedi Camassei

  • Giovanna Stefania Colafati

  • Luigi Boccuto

  • Angela Mastronuzzi

  • May 18, 2026

  • 0 min

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  • 1

    A novel pathogenic variant in the POT1 gene was identified in a patient with pediatric high-grade glioma and renal cell carcinoma.

  • 2

    The patient, diagnosed at age 12, developed a diffuse glioma and later a renal cell carcinoma at age 18, highlighting early-onset tumor risks.

  • 3

    Genetic testing revealed a heterozygous germline POT1 variant, c.910dupG, classified as pathogenic and inherited from the father.

  • 4

    The same POT1 variant was found in both tumor tissues, indicating its role in tumor development without loss of heterozygosity.

  • 5

    This case expands the clinical spectrum of POT1-associated tumors and emphasizes the importance of genetic testing for management.

Original Source(s)

Case Report: The revelation of a new pathogenic variant in the POT1 gene in a patient with a pediatric high-grade glioma and a renal cell carcinoma

  • by Selene Cipri, Antonella Cacchione, Annalisa Serra, Giada Del Baldo, Evelina Miele, Lucia Pedace, Sara Patrizi, Federica D’Antonio, Emanuele Agolini, Antonio Novelli, Alessandro Crocoli, Arianna Bertocchini, Andrea Carai, Sabina Barresi, Sabrina Rossi, Rita Alaggio, Francesca Diomedi Camassei, Giovanna Stefania Colafati, Luigi Boccuto, Angela Mastronuzzi

  • May 18, 2026

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