Atypical Parathyroid Tumor and Hyperparathyroidism, and Their Association With the CDC73 Mutation in a Pediatric Patient

TL;DR

A 15-year-old girl with rare hyperparathyroidism and an atypical parathyroid tumor was found to have a CDC73 mutation, highlighting the need for genetic testing in similar pediatric cases.

Contribution

The paper presents a rare pediatric case linking an atypical parathyroid tumor with a germline CDC73 mutation.

Findings

A 15-year-old female with PHPT had an atypical parathyroid tumor and a germline CDC73 mutation.

Genetic testing is crucial for diagnosing PHPT in young patients with unusual tumor histology.

Atypical parathyroid tumors in children may indicate an underlying genetic disorder.

Abstract

Primary hyperparathyroidism (PHPT) is rare in the pediatric population and often presents with pronounced symptoms due to delayed recognition. Atypical parathyroid tumors, or neoplasms of uncertain malignant potential, are even less common in children and may indicate an underlying genetic disorder.

This report discusses a 15-year-old female who presented with moderate hypercalcemia and was diagnosed with PHPT secondary to an atypical parathyroid tumor harboring a germline CDC73 mutation. She underwent bilateral inferior parathyroidectomy and left hemithyroidectomy. Histopathology confirmed an atypical parathyroid tumor.

This case highlights the diagnostic challenges of distinguishing atypical parathyroid tumors from carcinomas, particularly in pediatric patients. This underscores the importance of genetic testing in young patients with PHPT and unusual histology.

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