Hereditary paraganglioma-phaeochromocytoma syndrome is a hereditary tumour/cancer syndrome.
Hereditary paraganglioma-phaeochromocytoma (PGL/PCC) syndrome is an inherited condition associated with an increased risk of noncancerous tumours (called paragangliomas and phaeochromocytomas) developing in certain parts of the body.
While these tumours are generally noncancerous, some can become cancerous (malignant) and spread (metastasise) to other parts of the body.
Other noncancerous tumours can also cause medical problems. There may also be a small increased risk of kidney cancer, gastric tumours and pituitary gland tumours in individuals who have this condition.
Paragangliomas (PGL) are rare tumours, usually noncancerous, and found near nerve cells. These tumours can develop in various parts of the body, such as the base of the skull, neck, chest, abdomen and pelvis. PGL tumours can also develop in other areas of the body.
Phaeochromocytomas (PCC) are tumours that develop in the adrenal glands, which are located on top of our kidneys.
Hereditary tumours and cancers develop because of the presence of a faulty gene. Some genes function to protect us from cancer/tumour growth. When they are not working well, it causes an increased risk of tumours/cancer developing. We refer to genes that are not working well as faulty genes.
Individuals who carry a faulty tumour/cancer gene(s) have a higher chance of developing certain tumours/cancers over their lifetime compared to the general population. The types of tumours/cancers that they may be at increased risk for will depend on the gene(s) involved.
If you have a faulty tumour/cancer gene, you may be at increased risk of developing certain tumours/cancers. As genes are shared among family, other family members may have inherited the faulty gene and may be at increased risk of tumours/cancer too.
Hereditary tumours account for up to 40% of all paraganglioma and phaeochromocytoma cases.
Genetic testing is offered to individuals where a hereditary cause of their personal and/or family history of tumours/cancer is suspected.
Genes contain the instructions that our body reads to carry out different functions. Genetic testing involves analysing your genes to understand if there are faults (i.e., mutations) that may increase the risk of tumours/ cancers.
There are 3 types of results you may receive:
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