The TMEM127 gene is associated with hereditary paraganglioma-pheochromocytoma syndrome. Individuals with a mutation in their TMEM127 gene have an increased risk to develop pheochromocytomas (PCCs) and/or paragangliomas (PGLs). While an individual with a TMEM127 pathogenic variant will not necessarily develop cancer in their lifetime, the risk for cancer is increased over the general population risk. Affected individuals are typically diagnosed later in life (the mean age at diagnosis is 42 years), and there may be no other significant family history. The TMEM127 gene are inherited in an autosomal dominant manner, meaning each first degree relative (parent, child, and sibling) of an individual with this condition has a 50% chance of inheriting the disease causing mutation.
Summary of medical management and surveillance recommendations :
|Age to begin screening||5–10 years|
|Physical exam and blood pressure||Every 6–12 months|
|Urinary excretion of fractionated metanephrines and catecholamines in 24 hours||Annually|
|Whole body MRI||Every 2–3 years|
It is recommended that people with TMEM127 gene mutations do not live in places with high elevation.