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Pheochromocytoma Genetic Screening

30-40% of pheochromocytoma/paraganglioma cases harbor germline mutations; comprehensive genetic testing of 20+ susceptibility genes guides surveillance and family screening.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Endokrinoloji department. Book Appointment →

What is Pheochromocytoma Genetic Screening?

Pheochromocytomas are catecholamine-producing tumors arising from adrenal medulla chromaffin cells; paragangliomas are anatomically similar tumors arising from extra-adrenal sympathetic/parasympathetic ganglia. Combined incidence: 0.5-1/100,000/year. Approximately 30-40% are hereditary - the highest rate among endocrine tumors. Genetic testing is recommended for all pheochromocytoma/paraganglioma patients (PPGL).

Hereditary syndromes and genes: MEN2A/2B (RET, medullary thyroid + pheochromocytoma + parathyroid), VHL (renal cell carcinoma + hemangioblastoma + pheochromocytoma), NF1 (neurofibromas + optic glioma + pheochromocytoma 1-5%), SDHB/C/D (paraganglioma syndromes 1-4), TMEM127, MAX, FH, EPAS1/HIF2A. SDHB has the highest malignancy risk (~30%).

Indications for genetic testing: all PPGL patients (universal testing), young age (<45), bilateral or multifocal disease, malignant or metastatic, extra-adrenal location, family history, syndromic features. Test panel: NGS for SDHA/B/C/D, RET, VHL, NF1, TMEM127, MAX, FH, EPAS1. Positive result: cascade screening of first-degree relatives, lifelong surveillance (annual metanephrines + biennial MRI).

Symptoms

Paroxysmal hypertension + headache + palpitation + sweating
Hypertensive crisis (intraoperative, post-trauma)
Tachycardia and arrhythmia
Hyperhidrosis and pallor
Anxiety and panic-like attacks
Family history of pheochromocytoma/paraganglioma

Risk Factors

Family history of PPGL
Young age at diagnosis (<45 years)
Bilateral or multifocal tumor
Extra-adrenal location
Malignant or metastatic disease
Syndromic features (MEN2, VHL, NF1)

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Pheochromocytoma/paraganglioma diagnosis
  • Family history of PPGL
  • Genetic counseling preparation
  • First-degree relative with positive mutation
  • MEN2/VHL/NF1 syndrome features
  • Surveillance scheduling (mutation carrier)

Treatment Methods

01
Genetic counseling (pre-test)
02
NGS panel testing (15-20 genes)
03
Cascade screening of family members
04
Annual surveillance (metanephrines)
05
Biennial whole-body MRI
06
Tailored surgical planning (sparing techniques)

Which Department to Visit?

You can visit our Endokrinoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Let us help you

You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.