2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Distribution of Variants and Tumor Presentation in Pediatric Patients Diagnosed with Hereditary Pheochromocytoma Paraganglioma Syndrome

Distribution of Variants and Tumor Presentation in Pediatric Patients Diagnosed with Hereditary Pheochromocytoma Paraganglioma Syndrome

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Pdf Summary

This study aimed to describe the demographics, clinical data, and molecular factors of cases with SDHx mutations in the University of Utah's Huntsman Cancer Institute's Clinical Cancer Research database. The analysis included 309 patients, with 24 patients being diagnosed with a tumor at or before age 18 and 47 patients currently being 18 years old or younger. The results showed that SDHx variants were present in all patients, with SDHB being the most common. Among the pediatric patients, the average age of tumor diagnosis was 13.6 years. The study highlighted the value of biochemical and radiological screening before age 15 for pediatric patients with SDHx mutations. Additionally, further research is needed to evaluate the impact of early tumor detection on outcomes.

Asset Subtitle

Presenting Author - Kara Eckberg, BS; Co-Author - Neil S. Patel, M.D.; Co-Author - Anne Naumer, MS; Co-Author - Samantha Greenberg, MS, MPH;

Meta Tag

Cancer Syndromes

Genetic Testing

Genotype-Phenotype Correlations

Co-Author Neil S. Patel, M.D.

Co-Author Anne Naumer, MS

Co-Author Samantha Greenberg, MS, MPH

Presenting Author Kara Eckberg, BS

Keywords

study

demographics

clinical data

molecular factors

SDHx mutations

University of Utah

Huntsman Cancer Institute

patients

tumor diagnosis

pediatric patients