Paraganglioma syndrome

See ((Pheochromocytoma))

Describes a group of diseases in which patients have neoplasias of several paraganglia.

Chromafin cell tumors located at extra adrenal sites along the sympathetic and or parasympathetic chain are called paragangliomas.

May be hereditable.

Incidence of pheochromocytoma and paraganglioma is about 0.6 cases per hundred thousand person-years.

The rule of 10% applies: 10% are metastatic, 10% familial (actually 30%), 10% recur, 10% extra-adrenal (Actually 15-20%, 10% occur in children.

Lesions develop from chromaffin cell tumors developing in sympathetic and parasympathetic ganglia throughout the abdomen and head and neck area.

Lesions arising from the adrenal gland are called pheochromocytomas.

Classified genetically into 4 entities: PGL1, PGL2, PGL3 and PGL4.

Germline mutations in SDHB, SDHC and SDHD in PGL4, PGL3 and PGL1, respectively. (Germline mutations in genes encoding the 3 subunits of succinate dehydrogenase (SDH), which has a key function in the Krebs cycle and respiratory chain.)

Patients did not present with characteristic signs and symptoms.

If untreated can lead to serious complications from myocardial infarction, hypertension, stroke, arrhythmias as a result of catecholamine excess.

Often cured by resection.

Metastatic disease can only be diagnosed on the presence of chromaffin tissue in locations were such tissue is not present.

Tissue and/or vascular invasion found in such lesions does not correlate with the severity of the disease and the patient’s prognosis: The development of metastases cannot be predicted were evaluated by high vascularization, mitotic rate or vascular invasion.

Metastases are uncommon, but may occur patients with extra adrenal disease in patients with lesions greater than 5 cm, and or carrying an SDHB germline mutation, especially for children and adolescents.

10% of patients present with metastases at the time of diagnosis.

Overall 0-36% of patients develop metastatic disease.

Plasma and urine metanephrine levels are utilized in the diagnosis.

Excess dopamine is an indicator of metastases.

Survival of patients with metastatic disease ranges from a 5 year survival from 35-60%.

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