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 - Summary - 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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Objective:

To describe and molecularly characterize a rare case of early-onset multiple primary tumors associated with a novel pathogenic variant in the POT1 gene, linked to POT1 tumor predisposition syndrome (POT1-TPD).

Key Findings:
  • A novel heterozygous germline POT1 variant, c.910dupG (p.Asp304fs*8), was identified as pathogenic.
  • The patient developed a diffuse glioma at age 12 and renal cell carcinoma at age 18.
  • The same POT1 variant was found in both tumor tissues without loss of heterozygosity.
Interpretation:

This case expands the clinical spectrum of POT1-associated tumors and highlights the importance of genetic testing for patient management and family counseling, particularly in relation to existing literature on POT1 variants.

Limitations:
  • The prevalence of POT1-TPD is unknown, and genotype-phenotype correlations are not well established.
  • Limited family history data may affect the understanding of inheritance patterns and genetic counseling.
Conclusion:

This report underscores the relevance of genetic testing in identifying rare pathogenic variants associated with increased cancer risk.

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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