Pheochromocytomas and paragangliomas

Pheochromocytomas and paragangliomas are rare tumors arising from hormone-producing cells. Most often they affect the adrenal glands or nerve tissue in the abdomen and neck area. Typically, they are manifested by fluctuating blood pressure, palpitations, sweating, or anxiety. Early recognition and expert treatment are essential.

What kind of tumors are these?

Pheochromocytomas are rare neuroendocrine tumors that arise in the adrenal region (so-called intraadrenal paragangliomas). They produce stress hormones — catecholamines, which include adrenaline and norepinephrine.

Paragangliomas are similar to them, but arise outside the adrenal gland — most commonly in the abdominal cavity, more rarely in the pelvis, chest, or head and neck area.

Typical symptoms

  • High blood pressure (hypertension) — often sudden, occurring in episodes
  • Rapid heartbeat (tachycardia) — the patient feels palpitations
  • Episodes — lasting from minutes to hours, occurring day or night
  • Other symptoms: excessive sweating, facial pallor, tremors, nervousness, anxiety
  • Often following an episode exhaustion or even low blood pressure

Seizures tend to be recurrent—they can occur several times a day or as infrequently as once a month. If this diagnosis is not considered, the symptoms are often mistaken for stress, panic attacks, or menopause, for example.

Genetic background of the disease

Approx. 40% of these tumors have a hereditary basis; in other cases, these are genetic disorders that are not directly inherited but contribute to tumor development.

Genetic testing

  • For every patient with this type of tumor, we recommend comprehensive genetic testing
  • This includes a consultation with a geneticist and a DNA test using a blood or saliva sample.
  • There are more than 25 known genesinvolved in the development of these tumors.

Clinical classification

Pheochromocytomas and paragangliomas are divided into 3 core groups (clusters) based on the type of genetic mutation, which helps predict tumor behavior and determine the appropriate treatment.

The most significant are tumors from the first group (cluster 1) — they often arise in childhood and carry a higher risk of multiple occurrences, recurrence, and metastasis.
Tumors with mutations SDHB and SDHAtend to be the most aggressive, while tumors with an SDHCmutation tend to have a milder course.

Not sure how to proceed?

Every health problem has its own context. If you are hesitant about what is best for you, arrange a consultation. Our doctors will walk you through the situation and recommend a course of action that makes sense — professionally, sensitively, without unnecessary stress.

Diagnostics

Biochemical tests

The first step is to measure hormone levels in the blood or urine:

  • Free metanephrines — from blood or a 24-hour urine collection
  • 3-Methoxytyramine — a new marker for tumors related to mutations in the Krebs cycle
  • Clonidine suppression test — used in cases of unclear findings or false positives

Biochemical tests are performed while resting in a supine position, and the patient is prepared for them in advance according to the doctor's instructions.

Imaging methods

We approach tumor localization following biochemical confirmation of the presence of a tumor.

Anatomical imaging:

  • CT (computed tomography)
  • MRI (magnetic resonance imaging)

Functional imaging:

Used if the tumor is not clearly visible or if multiple tumors/metastases are suspected:

  • PET scan (e.g., 68Ga-DOTATATE, 18F-FDOPA, FDG)
  • MIBG scintigraphy
  • In addition, these methods help determine whether the patient is a candidate for theranostic treatment (radiotherapy).

Treatment options

Surgical treatment

The primary approach is surgical removal of the tumorwhenever possible:

  • It is also recommended for Small tumorsthat produce hormones
  • The aim is to prevent a sudden release of catecholamines (e.g., during stress or handling), which can lead to life-threatening conditions such as heart attack, stroke, or arrhythmia.

Advanced (metastatic) tumors

  • Chemotherapy — e.g., CVD regimen, Temodar
  • Systemic radiotherapy — radioactive treatment with Lutathera or MIBG
  • Immunotherapy — currently in the research phase
  • Local radiotherapy — used exceptionally, e.g., in cases of rapid growth or pressure on surrounding tissues

Recommendations

Pheochromocytomas and paragangliomas are rare diseasesthat require specialized care. Patients should turn to centers that have experience with their diagnostics, genetic testing, and treatment.

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