Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla).
A diagnosis of a hereditary PGL/PCC syndrome is strongly suspected in an individual with multiple, multifocal, recurrent, or early-onset paraganglioma or pheochromocytoma and/or a family history of paraganglioma or pheochromocytoma.
It is estimated that 35%-40% of all PGL/PCCs are associated with a hereditary predisposition (PMID: 20301715).
This panel targets the following genes known to be associated with Hereditary PGL/PCC syndrome: FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
This test is indicated for cases with an established diagnosis to guide malignant potential and risk of recurrence. It is normally requested by a specialist endocrinologist.
See the following link for detailed information regarding the genetics of PGL/PCC syndromes:
https://www.ncbi.nlm.nih.gov/books/NBK1548/
Genetics - Molecular Pathology
MOLP
Paragangliomia
PCC
Phaeochromocytoma
PLG
SDHB
SDHC
SDHD
4 weeks
7302