Case Report: A Novel POT1 Gene Variant in Pediatric Glioma and Renal Cancer

Selene Cipri published a clinical case report on figshare in May 2026. The report describes a female patient diagnosed with a pediatric diffuse glioma at age 12 and a renal cell carcinoma at age 18. Genetic analysis revealed a novel pathogenic germline variant in the POT1 gene, expanding the known clinical spectrum of POT1-associated tumors.

Use Cases

• Study the clinical presentation of POT1 tumor predisposition syndrome based on the detailed patient history.
• Analyze the molecular characterization of a novel POT1 variant based on the described genetic testing methods.
• Investigate the inheritance patterns of cancer predisposition genes based on the reported paternal segregation.
• Review the application of genetic testing for patient management and family counseling as highlighted in the report.

Strengths

• The report provides a detailed molecular characterization of a novel pathogenic variant.
• It includes specific patient ages (12 and 18) and the identified genetic variant (c.910dupG).
• The data is published under an open CC-BY-4.0 license.

Limitations

• The dataset is a single case report (1.7 MB DOCX file), limiting statistical analysis.
• Column-level documentation is absent; field semantics must be inferred from the narrative text.
• Row count is unknown, which may limit suitability assessment.

Provenance

Source

figshare

Collection Method

Clinical case study involving genetic germline testing, RNA sequencing, and DNA methylation profiling.

Freshness

Last updated 2026-05-18 04:10:38.