Pheochromocytoma

Pheochromocytomas and paragangliomas are tumors of chromaffin tissue:

• pheochromocytomas develop from the adrenal medulla (the central part of the adrenal gland)
• paragangliomas develop from sympathetic ganglia outside the adrenal gland.

These are rare diseases (fewer than 1 case per 100,000 people). In the vast majority of cases, pheochromocytomas and paragangliomas are benign tumors that can be cured by surgical removal. Only 10% of these tumors are malignant and carry a risk of local-regional spread, metastasis, and recurrence.

Diagnosis and Evaluation

The most commonly performed diagnostic test is the measurement of metanephrines in blood and in a 24-hour urine sample. Metanephrines are derivatives of epinephrine and norepinephrine that can be secreted by pheochromocytomas and paragangliomas. Measuring chromogranin A levels in the blood completes the laboratory workup, along with checking potassium and blood glucose levels.

The diagnosis of pheochromocytoma or paraganglioma is most often established upon analysis of the surgical specimen after surgery. It is sometimes necessary to seek confirmation of the diagnosis from an expert pathologist. A diagnosis of malignancy is made when a recurrence or spread of the disease away from the adrenal gland is detected.

Other tests will help identify and characterize adrenal and extra-adrenal lesions:

• Abdominal-pelvic computed tomography (CT) scans, followed by cervical or thoracic CT scans
• Magnetic resonance imaging (MRI) focused on the same regions
• Nuclear medicine tests: Whole-body scintigraphy using MIBG (meta-iodobenzylguanidine) or somatostatin analogs (somatostatin receptor scintigraphy or Octreoscan®) or positron emission tomography (FDG-PET or PET scan).

A screening for a family history of the disease will be performed systematically in all patients.

Treatments

Surgery

Treatment is primarily surgical and aims for complete resection of the tumor, any affected lymph nodes, and any extra-adrenal lesions. This procedure is preceded by medical treatment, the primary purpose of which is to block the effects of the hormones secreted by the tumor and to control blood pressure.

As with all rare conditions, initial management of a pheochromocytoma or paraganglioma at a specialized center is recommended. A partnership with Marie Lannelongue Hospital in Plessis-Robinson enables us to perform surgery for cervical and thoracic paragangliomas.

Medical and Locoregional Treatments

In malignant cases, characterized by the presence or development of locoregional or distant spread (metastases), surgery will be supplemented by various other therapies:

• chemotherapy, 
• internal beam radiation therapy,
• chemoembolization of metastases, radiofrequency ablation, etc.

Follow-up

In all cases, long-term follow-up with clinical and laboratory monitoring will be conducted, regardless of the initial form of the disease.

Most cases of pheochromocytomas in France are managed through a network called INCA COMETE, in which Gustave Roussy serves as the reference center.