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 - Scorecard - 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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Clinical Scorecard: Case Study: Identification of a Novel Pathogenic Variant in the POT1 Gene in a Patient with Pediatric High-Grade Glioma and Renal Cell Carcinoma

At a Glance

CategoryDetail
ConditionPOT1 Tumor Predisposition Syndrome (POT1-TPD)
Key MechanismsPathogenic variants in the POT1 gene affecting telomere protection and stability.
Target PopulationIndividuals with germline POT1 variants, particularly in pediatric populations.
Care SettingOncology and genetic counseling settings.

Key Highlights

  • First reported case of a novel pathogenic POT1 variant associated with early-onset multiple primary tumors.
  • Patient developed diffuse glioma at age 12 and renal cell carcinoma at age 18.
  • Genetic testing revealed a heterozygous pathogenic variant in the POT1 gene.
  • Molecular profiling identified a ROS1 fusion in the glioma.
  • Family members underwent clinical screening due to the identified genetic risk.

Guideline-Based Recommendations

Diagnosis

  • Utilize clinical exome panels for genetic testing in suspected cases of POT1-TPD.
  • Perform comprehensive molecular profiling of tumors for accurate diagnosis.

Management

  • Consider multidisciplinary approaches including surgery, radiotherapy, and chemotherapy for tumor management.
  • Implement regular surveillance for associated malignancies in patients with POT1 variants.

Monitoring & Follow-up

  • Conduct routine imaging and clinical evaluations for early detection of secondary tumors.
  • Monitor family members for potential hereditary cancer risks.

Risks

  • Increased lifetime risk for gliomas, multiple cutaneous melanomas, chronic lymphocytic leukemia, and angiosarcoma.

Patient & Prescribing Data

Young adults and children with identified POT1 pathogenic variants.

Treatment may include radiotherapy and chemotherapy, tailored based on tumor type and genetic findings.

Clinical Best Practices

  • Incorporate genetic counseling for patients and families regarding POT1-TPD.
  • Ensure comprehensive genetic screening for family members of affected individuals.

Related Resources & Content

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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