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Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
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PIK3CA Mutational Analysis of Parathyroid Adenomas
Aaliyah Riccardi1, Carolina Lemos1, Ryan Ramos1
1Center for Molecular Oncology University of Connecticut School of Medicine Farmington CT USA.
JBMR Plus
|June 16, 2020
Summary
Activating mutations in PIK3CA are rare in benign parathyroid adenomas, suggesting a strong association with malignant parathyroid neoplasia. However, these PIK3CA mutations alone are insufficient for definitively diagnosing parathyroid carcinoma.
Area of Science:
- Endocrinology
- Oncology
- Molecular Biology
Background:
- Benign parathyroid adenoma is the most common cause of primary hyperparathyroidism.
- Malignant parathyroid carcinoma is rare and difficult to distinguish from benign adenomas, often delaying diagnosis.
- Identifying molecular differences could aid in early diagnosis and treatment strategies.
Purpose of the Study:
- To investigate the specificity of PIK3CA hotspot mutations in distinguishing parathyroid carcinoma from benign parathyroid adenomas.
- To assess the frequency of PIK3CA mutations in sporadic parathyroid adenomas.
Main Methods:
- PCR amplification and Sanger sequencing of PIK3CA codons 111, 542/545, and 1047 in 391 parathyroid adenomas.
- Analysis of genomic DNA from typical, sporadic parathyroid adenomas.
Main Results:
- Activating PIK3CA mutations were found in 1% of benign parathyroid adenomas.
- These mutations were subclonal, somatic, and heterozygous.
- The rarity in benign adenomas suggests a strong link to malignant parathyroid neoplasia.
Conclusions:
- Tumorigenic activation of PIK3CA is strongly associated with malignant parathyroid neoplasia.
- PIK3CA mutations alone are not sufficient for the definitive molecular diagnosis of parathyroid carcinoma.
- Further research into molecular markers is needed for earlier diagnostic discrimination.
