Introduction Demographics Causes Clinical features Diagnosis Treatment Outcome
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.
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.
The associated hereditary syndromes and genetic mutations include the following:
Named disease |
Affected gene |
Inheritance |
Clinical 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 |
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).
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.
Phaeochromocytoma may be suspected from typical history and presence of hypertension on examination. The following investigations are performed.
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.
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.
Surgical excision is the only curative treatment modality. Effective management of perioperative hypertension improves outcomes.
Laparoscopic surgery is generally preferred to open surgery. Note:
Treatment of metastatic phaeochromocytoma is limited, with no curative treatment options.
Chemotherapy options for metastatic phaeochromocytoma include:
Other treatment options for metastatic phaeochromocytoma are:
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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