Scientific Background

Paraganglioma/Pheochromocytoma are rare types of tumors of the adrenal glands. They are considered as a subset of Neuroendocrine tuumors (NETs) and originate from specific cells of the neuroendocrine system. About 40% of the cases are linked to hereditary syndromes, which elevate the risk of developing cancer in the future.


PreSENTIA hereditary Paraganglioma / Pheochromocytoma cancer panel tests for numerous germline mutations that could cause paraganglioma or pheochromocytoma cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.


Who is this test for?

You should get tested if you meet at least one of the criteria below:

•  You have a family or personal history of a hereditary cancer syndrome associated with paraganglioma / pheochromocytoma cancers

•  You have a family member that has been diagnosed with a germline mutation associated with cancer susceptibility.


How many genes are tested in this panel?

6 genes


How many hereditary cancer syndromes are associated with this panel?

3 Hereditary cancer syndromes are associated with this panel. These are:

Hereditary Paraganglioma – Pheochromocytoma syndrome (SDHD, SDHAF2, SDHC, SDHB)

Multiple endocrine neoplasia type 1 (MEN1)

Von-Hippel Lindau syndrome (VHL)


Recommendations by professional bodies

It is recommended that patients with family history of pheochromocytoma or paraganglioma should consider genetic testing to identify the genetic mutations associated with inheritance (Shah et al., 2021; NCCN).


References and more information: 

The information above was taken by professional bodies such as ASCO

Shah MH, Goldner WS, Benson AB, Bergsland E, Blaszkowsky LS, Brock P, Chan J, Das S, Dickson PV, Fanta P, Giordano T, Halfdanarson TR, Halperin D, He J, Heaney A, Heslin MJ, Kandeel F, Kardan A, Khan SA, Kuvshinoff BW, Lieu C, Miller K, Pillarisetty VG, Reidy D, Salgado SA, Shaheen S, Soares HP, Soulen MC, Strosberg JR, Sussman CR, Trikalinos NA, Uboha NA, Vijayvergia N, Wong T, Lynn B, Hochstetler C. Neuroendocrine and Adrenal Tumors, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2021 Jul 28;19(7):839-868. doi: 10.6004/jnccn.2021.0032. PMID: 34340212.


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