Cowden syndrome

Overview

What is Cowden syndrome?

Cowden syndrome (CS) is a genetic condition in which people have an increased risk for certain types of cancer, including breast, uterine, thyroid, and other cancers.

Cowden syndrome is characterized by multiple hamartomas, or non-cancerous tumor-like growths. There are certain skin findings associated with Cowden syndrome. These skin findings include both trichilemmomas (growths involving the hair follicle) and papillomatous papules (raised growths on the face). People with CS often have a larger head size (macrocephaly; head circumference over 97th percentile). A small number of people with this condition may have developmental delay or autism. Some people may also develop a hamartoma, or benign tumor, of the brain referred to as Lhermitte-Duclos disease.

References
  • Cowden syndrome. [Internet]. Genetics Home Reference. [Reviewed October 2019 ].Available from: https://ghr.nlm.nih.gov/condition/cowden-syndrome
  • PTEN Hamartoma Tumor Syndrome. [Internet]. Gene Reviews [updated June 2, 2016]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1488/
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Are there other names for Cowden syndrome?

How common is Cowden syndrome?

Any other diseases that look a lot like Cowden syndrome?

Are there other names for Cowden syndrome?

Cowden syndrome (CS) may be also be referred to as Cowden disease (CD) or multiple hamartoma syndrome. Cowden syndrome was named after the first patient who was described to have this condition.

Cowden syndrome is one of four genetic conditions associated with genetic changes in the PTEN gene. PTEN Hamartoma Tumor syndrome (PHTS) is the term used to describe the group of conditions caused by a genetic change in PTEN. These syndromes include: Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome (PS), and Proteus-like syndrome.

Some people have some of the features of Cowden syndrome, such as the cancers associated with this condition, but do not meet the strict criteria for a diagnosis of Cowden syndrome. These individuals are often described as having Cowden-like syndrome.

References
  • Cowden syndrome. [Internet]. Genetics Home Reference. [Reviewed October 2019 ].Available from: https://ghr.nlm.nih.gov/condition/cowden-syndrome
  • PTEN Hamartoma Tumor Syndrome. [Internet]. Gene Reviews [updated June 2, 2016]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1488/
How common is Cowden syndrome?

Cowden syndrome is a rare hereditary cancer condition. As of 2019,it is estimated that 1 in 200,000 people have Cowden syndrome. Because CS is difficult to diagnosis, this is likely an underestimate.

References
  • Cowden syndrome. [Internet]. Genetics Home Reference. [Reviewed October 2019 ].Available from: https://ghr.nlm.nih.gov/condition/cowden-syndrome
  • Nelen MR, Kremer H, Konings IB, Schoute F, van Essen AJ, Koch R, Woods CG, Fryns JP, Hamel B, Hoefsloot LH, Peeters EA, Padberg GW. Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. Eur J Hum Genet. 1999;7:267-73.
  • Schrager CA, Schneider D, Gruener AC, Tsou HC, Peacocke M. Clinical and pathological features of breast disease in Cowden's syndrome: an underrecognized syndrome with an increased risk of breast cancer. Hum Pathol. 1998;29:47-53.
Any other diseases that look a lot like Cowden syndrome?

Cowden syndrome is characterized by multiple hamartomas, or non-cancerous tumor-like growths. Cowden syndrome is associated with mutations, or genetic changes, in the PTEN gene. There are also other hereditary cancer syndromes associated with hamartomous polyps of the digestive tract. For example:

  • Juvenile Polyposis syndrome (BMPR1A and SMAD4 genes) increases the risk for colorectal, stomach, pancreatic, and other cancers
  • Peutz-Jeghers syndrome (STK11 gene) increases the risk for breast, colorectal, stomach, small bowel, pancreatic, and other cancers

There are also other genetic conditions associated with hereditary breast and/or hereditary uterine cancer.

Some people with Cowden syndrome (CS) or Cowden- like syndrome have a genetic change involving the KLLN gene. The specific type of genetic change is called promoter hypermethylation.

There are other genes that should be considered for people who have a CS or Cowden-like syndrome and who had negative genetic testing for a PTEN gene mutation. Some of these genes include: SDHB, SDHC, SDHD, PIK3CA and AKT1.

References
  • PTEN Hamartoma Tumor Syndrome. [Internet]. Gene Reviews [updated June 2, 2016]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1488/
  • Orloff MS, He X, Peterson C, Chen F, Chen JL, Mester JL, Eng C. Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. Am J Hum Genet. 2013;92:76-80.
  • Bennett KL, Mester J, Eng C. Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome. JAMA. 2010;304:2724-31.

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