Paraganglioma & PheochromocytomaRSS

Last Updated: February 03, 2017

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What are paraganglioma and pheochromocytoma?

Paraganglioma is a rare cancer that originates in the nerve cells of the adrenal glands, organs on top of each kidney that produce important hormones. Paraganglioma that develops in the center of the adrenal gland is called pheochromocytoma. Paraganglioma that forms outside of the adrenal gland, often along blood vessels and nerves in the head and neck, is called extra-adrenal paraganglioma, or simply paraganglioma.

Each year, between 2 and 8 people per million worldwide are diagnosed with paraganglioma and pheochromocytoma.1 Ten percent of all cases occur in children.2 In both adults and children, pheochromocytoma is more common than paraganglioma.2 No known environmental, dietary, or lifestyle risk factors have been associated with these cancers. However, paraganglioma and pheochromocytoma can be hereditary diseases:3 one study reported that about 41 percent of patients diagnosed with one of these diseases in the U.S. carry inherited genetic mutations that increase the risk of malignancy.1 The Cancer Genome Atlas is studying both hereditary and non-hereditary (sometimes called sporadic) paraganglioma and pheochromocytoma. When the cancer spreads to other parts of the body, only 44 percent of patients survive five years after their diagnosis.2

View additional information on paraganglioma and pheochromocytoma.

Paraganglioma and pheochromocytoma are part of an effort to characterize rare tumor types. Read more about the Rare Tumor Projects.

What have The Cancer Genome Atlas (TCGA) researchers learned about paraganglioma and pheochromocytoma?

TCGA researchers have:

  • Performed the most comprehensive study to date of the non-inherited genomic alterations present in pheochromocytomas (PCC) and paragangliomas (PGL)
  • Identified novel genomic changes that have never before been seen in PCC or PGL
    • Found that mutations in the cold shock domain-containing E-1 gene (CSDE1), which prevent the cell from destroying itself when its behavior becomes abnormal, play a significant role in allowing PCC and PGL cells to grow and thrive
      • This is the first study to find that CSDE1 has a major impact on any type of cancer
    • Observed a chromosomal alteration in which a gene called MAML3, which contributes to cell proliferation, was displaced and fused with an area of the genome that increases expression of adjacent genes
      • This MAML3 gene fusion activates the Wnt signaling pathway, which leads to cell growth and metastasis
  • Separated PCC and PGL into four subtypes based on genomic alterations of the tumors
    • A new subtype called the Wnt-altered subtype contained CSDE1 and MAML3 alterations and was associated with the shortest survival
    • A new subtype called the cortical admixture subtype displayed increased expression of genes commonly expressed in the adrenal cortex
    • Two other subtypes, the kinase signaling and pseudohypoxia subtypes were previously described subtypes of PCC and PGL

See more about TCGA's study of pheochromocytoma and paraganglioma.

Where can I find more information about the TCGA Research Network's studies, or studies using TCGA data?

View a list of TCGA scientific publications.

Where can I find clinical trials to treat paraganglioma and pheochromocytoma that are supported by the National Cancer Institute (NCI)?


View a list of NCI-supported  paraganglioma and pheochromocytoma clinical trials that are now accepting patients.


Selected References 

1 Fishbein L, Merrill S, Fraker DL, Cohen DL, and Nathanson KL. (2013) Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing. Ann Surg Oncol. 20(5):1444-1450.

2 Hanna NN, and Kenady, DE. (2001) Pheochromocytoma. From: Holzheimer RG, and Mannick JA, eds. Surgical treatment: evidence-based and problem-oriented. Munich: Zuckschwerdt. http://www.ncbi.nlm.nih.gov/books/NBK7002/.

3 Genetics Home Reference. (2013) Hereditary paraganglioma-pheochromocytoma. National Library of Medicine. http://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma.