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

Frontiers In Oncology

Overview

This case study describes a novel pathogenic variant in the POT1 gene associated with pediatric high-grade glioma and renal cell carcinoma. The findings highlight the importance of genetic testing in managing patients with multiple primary tumors.

Background

POT1 tumor predisposition syndrome (POT1-TPD) is a rare autosomal dominant disorder linked to increased cancer risk, including gliomas. Understanding the genetic basis of such syndromes is crucial for early diagnosis and management. This case underscores the need for genetic counseling and testing in patients with early-onset tumors.

Data Highlights

No numerical data or trial data available in the article.

Key Findings

The patient was diagnosed with a diffuse glioma at age 12 and renal cell carcinoma at age 18.
A heterozygous pathogenic variant in the POT1 gene (c.910dupG) was identified.
The same POT1 variant was present in both tumor tissues without loss of heterozygosity.
This case expands the clinical spectrum of tumors associated with POT1-TPD.
Genetic testing revealed paternal inheritance of the POT1 variant.

Clinical Implications

Healthcare professionals should consider genetic testing for patients with early-onset tumors, particularly in cases of multiple primary malignancies. Understanding the implications of POT1-TPD can guide patient management and family counseling.

Conclusion

This report highlights the significance of identifying novel pathogenic variants in cancer predisposition syndromes, emphasizing the role of genetic testing in clinical practice.