Expert Reviewed By: Dr. Brandon Colby MD
Understanding Parathyroid Adenoma, Somatic
Parathyroid adenoma is a benign tumor that originates from the parathyroid glands. These glands are responsible for producing parathyroid hormone (PTH), which regulates calcium levels in the blood. In cases of parathyroid adenoma, the affected gland becomes overactive, leading to an excessive production of PTH and, subsequently, high calcium levels in the blood. This condition is known as primary hyperparathyroidism.
Somatic parathyroid adenoma refers to cases where the tumor is not inherited but arises from genetic mutations occurring in the cells of the parathyroid gland. These mutations are not present in the individual's germline (egg or sperm cells) and, therefore, are not passed on to their offspring. Recent studies have shed light on the genetic and transcriptomic profiles of sporadic parathyroid adenoma, identifying mutations in several genes, including MEN1, EZH2, CASR, EZH1, ZFX, mTOR, and FAT1 (source).
Diagnosing Parathyroid Adenoma through Genetic Testing
Diagnosing parathyroid adenoma typically involves measuring blood calcium and PTH levels, followed by imaging tests such as ultrasound, computed tomography (CT) scan, or magnetic resonance imaging (MRI). However, genetic testing can provide valuable information about the specific mutations involved in the development of the tumor and guide treatment decisions.
Identifying Mutations in Parathyroid Adenoma
Genetic testing can help identify the specific mutations present in a parathyroid adenoma, which can inform clinicians about the tumor's behavior and potential treatment options. For example, a pediatric case report of a rare parathyroid adenoma with a somatic CASR pathogenic variant was recently published (source). In this case, the identification of the CASR mutation allowed for a better understanding of the tumor's development and informed the decision to perform surgical removal of the adenoma.
Understanding the Impact of Race and Sex on Genetic Causes
Genetic testing can also reveal how race and sex impact the somatic mutation spectrum of parathyroid adenoma. A recent review discussed how these factors influence the genetic causes of aldosterone-producing adenomas, which are another type of hormone-producing tumor (source). Understanding these differences can help clinicians tailor their approach to diagnosing and treating parathyroid adenoma in diverse patient populations.
Identifying Concurrent Somatic Mutations
In some cases, parathyroid adenomas may have concurrent somatic mutations in multiple genes. One such example is a case report of an aldosterone-producing adenoma with concurrent somatic mutations in CTNNB1 and GNA11 genes (source). Identifying these concurrent mutations through genetic testing can help clinicians better understand the tumor's behavior and guide treatment decisions.
Using Genetic Testing to Guide Treatment for Parathyroid Adenoma
The information obtained from genetic testing can be invaluable in guiding treatment decisions for patients with parathyroid adenoma. By identifying the specific mutations involved in the tumor's development, clinicians can better understand the tumor's behavior and make more informed decisions about treatment options, such as surgery or medication.
Personalized Treatment Approaches
Genetic testing can help clinicians develop personalized treatment plans for patients with parathyroid adenoma. By understanding the specific genetic mutations involved in the tumor's development, doctors can tailor their treatment approach to target the underlying causes of the condition.
Monitoring and Prognosis
Genetic testing can also inform the monitoring and prognosis of patients with parathyroid adenoma. By identifying the specific mutations present in the tumor, clinicians can better predict the tumor's behavior and determine the most appropriate follow-up care for the patient.
In conclusion, genetic testing plays a crucial role in understanding, diagnosing, and treating somatic parathyroid adenoma. By identifying the specific mutations involved in the tumor's development, clinicians can better understand the tumor's behavior, tailor their treatment approach, and improve patient outcomes.
About The Expert Reviewer
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC)