What is pheochromocytoma and paraganglioma syndrome?
Key Points. Pheochromocytoma and paraganglioma are rare tumors that come from the same type of tissue. Pheochromocytoma is a rare tumor that forms in the adrenal medulla (the center of the adrenal gland). Paragangliomas form outside the adrenal gland.
What is pheochromocytoma associated with?
Although pheochromocytomas have classically been associated with 3 syndromes—von Hippel-Lindau (VHL) syndrome, multiple endocrine neoplasia type 2 (MEN 2), and neurofibromatosis type 1 (NF1)—there are now 10 genes that have been identified as sites of mutations leading to these tumors.
What causes pheochromocytoma and paraganglioma?
Pheochromocytomas/paragangliomas may be caused by mutations of one of at least ten different genes: the RET gene, which is also associated with multiple endocrine neoplasia type 2; the VHL gene, which is also associated with von Hippel-Lindau syndrome; the neurofibromatosis (NF1) gene, associated with neurofibromatosis …
What gene causes pheochromocytoma?
Hereditary Paraganglioma and Pheochromocytoma syndrome (PGL/PCC) which can be caused by mutations in a number of genes: SDHA, SDHB, SDHC, SDHD, SDHAF2, MAX, TMEM127, and possibly KIF1B and EGLN1. Von Hippel-Lindau syndrome (VHL) caused by mutations in the VHL gene.
What is men2 syndrome?
A rare, genetic disorder that affects the endocrine glands and can cause tumors in the thyroid gland, parathyroid glands, and adrenal glands. The affected endocrine glands may make high levels of hormones, which can lead to other medical problems such as high blood pressure and kidney stones.
What causes paraganglioma?
Most paragangliomas have no known cause, but some are caused by gene mutations that are passed from parents to children. Paraganglioma cells commonly secrete hormones known as catecholamines, including adrenaline, which is the fight-or-flight hormone.
What is Chompret criteria?
The extended criteria would include the following: A proband with a tumor belonging to the narrow LFS tumor spectrum (eg, soft tissue sarcoma, osteosarcoma, brain tumor, premenopausal breast cancer, adrenocortical carcinoma, leukemia, and lung bronchoalveolar cancer) diagnosed before age 46 years, with at least one …
What is LFS test?
In the past, the diagnosis of LFS was made by clinical criteria, meaning it was based on the signs and symptoms the patient and family had. Now, genetic testing is available for people to learn whether they carry a copy of the TP53 mutation before any physical signs of LFS appear.
Is phyllodes tumor hereditary?
You’re more likely to get a phyllodes tumor if you have a rare, inherited genetic condition called Li-Fraumeni syndrome. Causes The cause of phyllodes tumors is unknown. They may just arise as…
Is pheochromocytoma a neuroendocrine tumour?
You can help speed up the development of new treatments by giving researchers the tools they need. Pheochromocytoma is a type of neuroendocrine tumor that grows from cells called chromaffin cells. These cells produce hormones needed for the body and are found in the adrenal glands.
What is a paraganglioma tumor?
paraganglioma? Paraganglioma (păr′ə-găng′glē-ō′mə) is a rare, slow-growing tumor that is closely related to pheochromocytoma. It originates in the parasympathetic or sympathetic nervous system. They occur in both men and women equally, and they affect every race of people.