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Phaeochromocytoma

Author: Dr Livia Francine Soriano BSc MBBS MRCP; Chief Editor: Dr Amanda Oakley, Dermatologist, Hamilton, New Zealand, January 2016.

What is phaeochromocytoma?

Phaeochromocytoma (pheochromocytoma in American spelling) is a rare neuroendocrine tumour that secretes high amounts of the catecholamines noradrenaline and, to a lesser extent, adrenaline.

Phaeochromocytomas arise from the adrenal medulla (85%) or from neural ganglia in the head and neck (15%). The latter are also termed paragangliomas.

Who gets phaeochromocytoma?

Phaeochromocytomas are rare. It is estimated that 2–8 cases are diagnosed per year in a population of one million people. The tumours have a higher prevalence in patients with hypertension (about 1–6 per thousand).

The mean age at diagnosis is 40 years, although phaeochromocytoma can occur at any age.

What causes phaeochromocytoma?

The associated hereditary syndromes and genetic mutations include the following:

Named diseaseAffected geneInheritanceClinical phenotype
Von Hippel-Lindau VHL gene on chromosome 3p25 Autosomal dominant Phaeochromocytomas (in 20% of cases), angiomatosis, renal clear cell carcinomas, renal cysts, primitive neuroectodermal tumours (PNET), retinal haemangioblastomas, pancreatic tumours, endolymphatical tumours, epididymal cystadenomas
Neurofibromatosis Type 1 NF1 gene on chromosome 17q11 Autosomal dominant Phaeochromocytoma (in 1–3% of cases), neurofibromas, learning disabilities, scoliosis, kyphosis
Multiple Endocrine Neoplasia Type 2 RET gene on chromosome 10q11 Autosomal dominant Bilateral phaeochromocytomas (in 50–80% of cases), medullary thyroid carcinoma, parathyroid adenoma
Succinate Dehydrogenase Protein Complex Genes Germline Mutations SDHA gene on chromosome 5p15 Autosomal dominant Paraganglioma, dilated cardiomyopathy, Leigh syndrome
  SDHAF2 on chromosome 11q12 Autosomal dominant Multifocal paraganglioma, no associated metastases
  SDHB gene on chromosome 1p36 Autosomal dominant Phaeochromocytoma, paraganglioma, Cowden syndrome, renal–cell carcinomas, gastrointestinal stromal tumours
  SDHD gene on chromosome 11q23 Autosomal dominant Phaeochromocytoma, paraganglioma, Carcinoid tumours, Cowden syndrome, gastrointestinal stromal tumours, deafness
TMEM127 TMEM127 gene on chromosome 2q11 Autosomal dominant Bilateral phaeochromocytomas, and malignancy is infrequent
MAX MAX gene on chromosome 14q23 Autosomal dominant Malignant phaeochromocytomas

10% of gene mutations are associated with malignancy (cancer).

What are the clinical features of phaeochromocytoma?

Symptoms of phaeochromocytoma are variable due to paroxysmal episodes of hormone release. They include:

Malignancy is defined by the presence of distant metastases. Metastatic rates are 10–15% for phaeochromocytomas and 20–50% for paragangliomas. The most common metastatic sites are the skeleton, lungs, liver, and lymph nodes.

How is phaeochromocytoma diagnosed?

Phaeochromocytoma may be suspected from typical history and presence of hypertension on examination. The following investigations are performed.

Blood tests

Imaging

Anatomical localisation:

Radionuclide imaging is used to determine functionality of the tumour and for follow-up.

The criteria for malignancy are excessive hormone production and tumour size > 4–6 cm. Currently, there are no histological criteria for distinguishing benign and malignant tumours.

What is the treatment for phaeochromocytoma?

The management of patients with phaeochromocytoma should be performed by multidisciplinary teams of experienced endocrinologists, anesthesthetists and surgeons, to prevent perioperative complications and reduce morbidity.

Genetic counselling may be required.

Medical management of hypertension

Localised phaeochromocytoma

Surgical excision is the only curative treatment modality. Effective management of perioperative hypertension improves outcomes.

Laparoscopic surgery is generally preferred to open surgery. Note:

Metastatic phaeochromocytoma

Treatment of metastatic phaeochromocytoma is limited, with no curative treatment options.

Chemotherapy options for metastatic phaeochromocytoma include:

Other treatment options for metastatic phaeochromocytoma are:

What is the outcome for phaeochromocytoma?

Negative prognostic factors for phaeochromocytoma include:

The prognosis is excellent for a completely resected sporadic phaeochromocytoma, which has a low risk of relapse or malignancy.

In inherited causes, one-third of patients with extra-adrenal disease experience recurrence.

Following treatment:

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