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Cowden-like syndrome(CWS2)

MedGen UID:
436704
Concept ID:
C2676500
Disease or Syndrome
Synonyms: COWDEN DISEASE 2; COWDEN SYNDROME 2; CWS2
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene: SDHB
Cytogenetic location: 1p36.13
OMIM: 612359

Definition

Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers. Almost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties. Cowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include colorectal cancer, kidney cancer, and a form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development or intellectual disability. The features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors. Both conditions can be caused by mutations in the PTEN gene. Some people with Cowden syndrome have had relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other individuals have had the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome instead of two distinct conditions. Some people have some of the characteristic features of Cowden syndrome, particularly 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.
[from GHR]

Clinical features

Uterine leiomyoma
MedGen UID:
504355
Concept ID:
CN000127
Finding
The presence of a `leiomyoma` (MPATH:425) of the `uterus` (FMA:17558).
Papillary thyroid carcinoma
MedGen UID:
505394
Concept ID:
CN002618
Finding
The presence of a `papillary adenocarcinoma` (MPATH:295) of the `thyroid gland` (FMA:9603).
Breast carcinoma
MedGen UID:
428324
Concept ID:
CN002714
Finding
The presence of a `carcinoma` (MPATH:549) of the `breast` (FMA:9601).
Endometrial carcinoma
MedGen UID:
506666
Concept ID:
CN167840
Finding
A carcinoma of the endometrium, the mucous lining of the uterus.
Uterine leiomyoma
MedGen UID:
504355
Concept ID:
CN000127
Finding
The presence of a `leiomyoma` (MPATH:425) of the `uterus` (FMA:17558).
Endometrial carcinoma
MedGen UID:
506666
Concept ID:
CN167840
Finding
A carcinoma of the endometrium, the mucous lining of the uterus.
Breast carcinoma
MedGen UID:
428324
Concept ID:
CN002714
Finding
The presence of a `carcinoma` (MPATH:549) of the `breast` (FMA:9601).
Papillary thyroid carcinoma
MedGen UID:
505394
Concept ID:
CN002618
Finding
The presence of a `papillary adenocarcinoma` (MPATH:295) of the `thyroid gland` (FMA:9603).

Recent clinical studies

Etiology

Ngeow J, He X, Mester JL, Lei J, Romigh T, Orloff MS, Milas M, Eng C
J Clin Endocrinol Metab 2012 Dec;97(12):E2320-7. Epub 2012 Oct 12 doi: 10.1210/jc.2012-2944. [Epub ahead of print] PMID: 23066114Free PMC Article
He X, Saji M, Radhakrishnan D, Romigh T, Ngeow J, Yu Q, Wang Y, Ringel MD, Eng C
J Clin Endocrinol Metab 2012 Nov;97(11):E2179-87. Epub 2012 Sep 7 doi: 10.1210/jc.2012-1991. [Epub ahead of print] PMID: 22962422Free PMC Article
Ni Y, He X, Chen J, Moline J, Mester J, Orloff MS, Ringel MD, Eng C
Hum Mol Genet 2012 Jan 15;21(2):300-10. Epub 2011 Oct 6 doi: 10.1093/hmg/ddr459. [Epub ahead of print] PMID: 21979946Free PMC Article
Ngeow J, Mester J, Rybicki LA, Ni Y, Milas M, Eng C
J Clin Endocrinol Metab 2011 Dec;96(12):E2063-71. Epub 2011 Sep 28 doi: 10.1210/jc.2011-1616. [Epub ahead of print] PMID: 21956414Free PMC Article
Bennett KL, Mester J, Eng C
JAMA 2010 Dec 22;304(24):2724-31. doi: 10.1001/jama.2010.1877. PMID: 21177507Free PMC Article

Diagnosis

Efstathiadou ZA, Sapranidis M, Anagnostis P, Kita MD
Head Neck 2014 Jan;36(1):E12-6. Epub 2013 Oct 16 doi: 10.1002/hed.23420. [Epub ahead of print] PMID: 23804288
Ngeow J, He X, Mester JL, Lei J, Romigh T, Orloff MS, Milas M, Eng C
J Clin Endocrinol Metab 2012 Dec;97(12):E2320-7. Epub 2012 Oct 12 doi: 10.1210/jc.2012-2944. [Epub ahead of print] PMID: 23066114Free PMC Article
Ngeow J, Mester J, Rybicki LA, Ni Y, Milas M, Eng C
J Clin Endocrinol Metab 2011 Dec;96(12):E2063-71. Epub 2011 Sep 28 doi: 10.1210/jc.2011-1616. [Epub ahead of print] PMID: 21956414Free PMC Article
Bennett KL, Mester J, Eng C
JAMA 2010 Dec 22;304(24):2724-31. doi: 10.1001/jama.2010.1877. PMID: 21177507Free PMC Article

Therapy

Ngeow J, He X, Mester JL, Lei J, Romigh T, Orloff MS, Milas M, Eng C
J Clin Endocrinol Metab 2012 Dec;97(12):E2320-7. Epub 2012 Oct 12 doi: 10.1210/jc.2012-2944. [Epub ahead of print] PMID: 23066114Free PMC Article

Prognosis

Ngeow J, He X, Mester JL, Lei J, Romigh T, Orloff MS, Milas M, Eng C
J Clin Endocrinol Metab 2012 Dec;97(12):E2320-7. Epub 2012 Oct 12 doi: 10.1210/jc.2012-2944. [Epub ahead of print] PMID: 23066114Free PMC Article
Ngeow J, Mester J, Rybicki LA, Ni Y, Milas M, Eng C
J Clin Endocrinol Metab 2011 Dec;96(12):E2063-71. Epub 2011 Sep 28 doi: 10.1210/jc.2011-1616. [Epub ahead of print] PMID: 21956414Free PMC Article
Bennett KL, Mester J, Eng C
JAMA 2010 Dec 22;304(24):2724-31. doi: 10.1001/jama.2010.1877. PMID: 21177507Free PMC Article

Clinical prediction guides

Ngeow J, He X, Mester JL, Lei J, Romigh T, Orloff MS, Milas M, Eng C
J Clin Endocrinol Metab 2012 Dec;97(12):E2320-7. Epub 2012 Oct 12 doi: 10.1210/jc.2012-2944. [Epub ahead of print] PMID: 23066114Free PMC Article
Ni Y, He X, Chen J, Moline J, Mester J, Orloff MS, Ringel MD, Eng C
Hum Mol Genet 2012 Jan 15;21(2):300-10. Epub 2011 Oct 6 doi: 10.1093/hmg/ddr459. [Epub ahead of print] PMID: 21979946Free PMC Article
Bennett KL, Mester J, Eng C
JAMA 2010 Dec 22;304(24):2724-31. doi: 10.1001/jama.2010.1877. PMID: 21177507Free PMC Article

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