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 suddenly, in the form of seizures
  • Accelerated heartbeat (tachycardia) — the patient feels palpitations
  • Seizures — last minutes to hours, appearing day and night
  • Other manifestations: excessive sweating, pallor of the face, tremor, nervousness, anxiety
  • It often appears after a seizure exhaustion or even low pressure

Seizures tend to be repeated — they can occur several times a day, or even just once a month. If this diagnosis is not thought of, the symptoms tend to be mistaken for stress, panic attack 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 hereditary, but are involved in the formation of the tumor.

Genetic examination

  • For every patient with this type of tumor, it is recommended comprehensive genetic examination
  • This includes a consultation with a geneticist and a DNA test from blood or saliva
  • There are more than known 25 genesthat are involved in the formation of these tumors

Clinical division

Pheochromocytomas and paragangliomas are divided into 3 core groups (clusters) according to the type of genetic mutation, which helps to predict the behavior of the tumor, as well as to choose the right treatment.

The most significant are tumors from the first group (cluster 1) — they often arise already in childhood, have a higher risk of multiple occurrence, recurrence and formation of metastases.
Tumors with mutation tend to be the most aggressive SDHB and SDHA, tumors with a mutation tend to have a milder course SDHC.

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 basic step is to measure hormones in the blood or urine:

  • Free metanephrins — from blood or 24-hour urine collection
  • 3-Methoxythyramine — a new marker for tumours related to mutations in the so-called Krebs cycle
  • Clonidine test — in case of unclear findings or false positives

Biochemical tests are carried out in resting conditions, lying down, and the patient is prepared for them in advance according to the doctor's instructions.

Imaging methods

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

Anatomical imaging:

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

Functional imaging:

It is used if the tumor is not well visible or multiplicide/metastasis is suspected:

  • PET examination (e.g. 68GA-dotatate, 18F-FDOPA, FDG)
  • MIBG scintigraphy
  • In addition, these methods help determine whether the patient is suitable for the so-called. teranostic treatment (radiotherapy).

Treatment options

Surgical treatment

The basic procedure is removal of the tumor surgicallyif possible:

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

Advanced (metastatic) tumors

  • Chemotherapy — e.g. CVD mode, Temodar
  • Systemic radiotherapy — radioactive treatment with Lutathera or MIBG
  • Immunotherapy — currently in the research phase
  • Local radiotherapy — exceptionally, e.g. with 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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