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What is Carney Complex?

Carney Complex (CNC) is a very rare genetic condition that can cause both non-cancerous and sometimes cancerous tumors to grow in different parts of the body. It can also lead to problems with hormone levels. The majority of these are benign neoplasms. Mostly (but not exclusively) the endocrine system, the skin, the heart and schwann cells in the central nervous system are affected.

Because fewer than 1,000 cases have been found around the world, Carney Complex is considered an ultra-rare disease. Finding it early and getting the right care throughout life can make a big difference.

What causes Carney Complex?

It’s believed that people with CNC are missing a tumour suppressor gene which causes tumours throughout the body and affects many organs (Sandrini et al., 2002)1

More than 70% of the 750 worldwide documented cases have a mutation on the gene called PRKAR1A which is located on chromosome 17 (Correa et al., 2015)2.

The remaining 30% are people that exibit symptoms of CNC but when tested for the PRKAR1A gene came back negative. Researchers have since found other genes associated with CNC ((Correa et al., 2015b)3; (Tirosh et al., 20184). They suspect other there are other genetic variants that have not yet been identified.

For a simplified overview of CNC please click here.

More Information

The National Institutes of Health (NIH) have published a factsheet on their website.
We have translated the factsheet into German.

Research is needed!

Further investigation is needed!
While we know that symptoms of CNC can lead to tumours and that this is related to different mutations, researchers have yet to discover the actual triggers!

Back in 2018 Dr. Constantine Stratakis was so kind to record this video for Awareness Day explaining about CNC

  1. Sandrini, F., Matyakhina, L., Sarlis, N. J., Kirschner, L. S., Farmakidis, C., Gimm, O., & Stratakis, C. A. (2002). Regulatory subunit type I‐α of protein kinase A (PRKAR1A): A tumor‐suppressor gene for sporadic thyroid cancer. Genes Chromosomes and Cancer, 35(2), 182–192. https://doi.org/10.1002/gcc.10112 ↩︎
  2. Correa, R., Salpea, P., & Stratakis, C. A. (2015). Carney complex: an update. European Journal of Endocrinology, 173(4), M85–M97. https://doi.org/10.1530/eje-15-0209 ↩︎
  3. Correa, R., Salpea, P., & Stratakis, C. A. (2015b). Carney complex: an update. European Journal of Endocrinology, 173(4), M85–M97. https://doi.org/10.1530/eje-15-0209 ↩︎
  4. Tirosh, A., Valdés, N., & Stratakis, C. A. (2018). Genetics of micronodular adrenal hyperplasia and Carney complex. La Presse Médicale, 47(7–8), e127–e137. https://doi.org/10.1016/j.lpm.2018.07.005 ↩︎

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