Heredity and genes: Can an adrenal tumor be “in the family”?

Introduction:
Can a tumor on the adrenal gland be hereditary? This question is asked by many patients, especially if a similar disease has occurred in someone in the family. The answer is: yes, sometimes it can. While this is not a common occurrence, genetics plays a key role in certain cases — which is why genetic testing is now part of modern diagnostics.

When to sharpen: suspicion of genetic background

Situations that should lead to consideration for genetic examination include:

• the appearance of an adrenal tumor in Young patients (up to 40 years),
• bilateral tumors (e.g. pheochromocytomas),
• the appearance of tumors in the framework of families,
• presence Other tumor diseases in the patient,
• unusual clinical course or multiple focal findings.

Genes that play a role

Researches of Prof. Karel Pacák and other world experts show that some adrenal tumors are often associated with specific genetic mutations. The most common genetic syndromes include:

1. MEN syndrome (multiple endocrine neoplasia)
   • Type 2 (RET mutation) — common in pheochromocytomas.
2. VHL syndrome (Von Hippel-Lindau)
   • Mutations of the VHL gene, common in young patients with pheochromocytomas or paragangliomas.
3. NF1 (Neurofibromatosis type 1)
   • Together with skin manifestations, it can lead to the formation of a tumor of the adrenal gland.
4. SDHx mutations (e.g. SDHB, SDHD)
   • Associated with paragangliomas, often malignant. Genes of mitochondrial metabolism.
5. Li-Fraumeni syndrome (TP53 mutation)
   • Rare genetic predisposition associated with adrenocortical carcinoma (ACC) in both children and adults.

How is genetic testing done?

• Blood collection and DNA analysis in a specialized laboratory.
• The results are assessed by a geneticist.
• In the event of a positive finding, genetic counseling is also recommended for relatives.

The important thing is that genetic testing is not invasive and for at-risk patients, it is covered by the health insurance company.

Why is this important?

• helping accurately establish the diagnosis and thus the most appropriate treatment.
• It allows early apprehension other possible tumors.
• For relatives, it allows Preventive monitoring.
• For some genetic mutations, a specific therapeutic approach may be recommended or even unnecessary surgery avoided.

Prof. Pacák says:

“Thanks to genetic testing, we can prevent unnecessary mistakes in treatment and help the whole family. Genetics is no longer a matter of the future -- it is the reality of everyday practice. “

Summary

If a patient has an adrenal tumor -- especially at a young age, on either side or with a family burden -- genetics plays a crucial role. Thanks to early testing, it is possible to detect risks, adjust treatment and protect other family members as well. In the Center led by Prof. At the same time, genetic diagnosis is an integral part of modern care.

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