Cowden syndrome: Difference between revisions
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'''Cowden syndrome''' is a rare [[autosomal dominant]] [[inherited disorder]] characterized by multiple tumor-like growths called [[hamartoma]]s and an increased risk of certain forms of [[cancer]].<ref name = eng> Eng, C. Genetics of Cowden syndrome: through the looking glass of oncology. Int J Oncol 1998 Mar;12(3):701-10. |
'''Cowden syndrome''' (also known as "Cowden's disease," and "Multiple hamartoma syndrome"<ref name="Andrews">{{cite book |author=James, William D.; Berger, Timothy G.; et al. |title=Andrews' Diseases of the Skin: Clinical Dermatology |publisher=Saunders Elsevier |location= |year=2006 |pages= |isbn=0-7216-2921-0 |oclc= |doi= |accessdate=}}</ref>{{rp|673}}) is a rare [[autosomal dominant]] [[inherited disorder]] characterized by multiple tumor-like growths called [[hamartoma]]s and an increased risk of certain forms of [[cancer]].<ref name = eng> Eng, C. Genetics of Cowden syndrome: through the looking glass of oncology. Int J Oncol 1998 Mar;12(3):701-10. |
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Revision as of 18:13, 19 June 2009
| Cowden syndrome | |
|---|---|
| Specialty | Oncology, medical genetics, gastroenterology, neurology  |
Cowden syndrome (also known as "Cowden's disease," and "Multiple hamartoma syndrome"[1]: 673 ) is a rare autosomal dominant inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer.[2]
Signs and Symptoms
The hamartomas are small, noncancerous growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but can also occur in the intestinal tract and other parts of the body. They are largely benign. However, people with Cowden syndrome have an increased risk of developing several types of cancer, including cancers of the breast, thyroid, and uterus. Women with Cowden syndrome have as much as a 25-50% lifetime risk of developing breast cancer[3] and up to 75% have benign breast conditions such as ductal hyperplasia, intraductal papillomatosis, adenosis, lobular atrophy, fibroadenomas, and fibrocystic changes.[4] Nonmedullary thyroid cancer develops in up to 10 percent of affected individuals.[2] In addition, over one-half of those affected have follicular adenomas or multinodular goiter of the thyroid. Other malignancies that appear to be associated with Cowden and Cowden-like syndrome include endometrial and renal cancers.[5] Other signs and symptoms of Cowden syndrome can include an enlarged head, a rare noncancerous brain tumor called Lhermitte-Duclos disease, and glycogenic acanthosis of the oesophagus.[6] The majority of affected individuals develop the characteristic skin lesions by age 20.
History
Cowden syndrome was first described in 1963 by Lloyd & Dennis. They named the condition after the surname of the patient.[7]
Epidemiology
Because Cowden syndrome can be difficult to diagnose, the exact prevalence is unknown; however, it probably occurs in at least 1 in 200,000 people.
Genetics
Mutations in the PTEN gene cause Cowden syndrome. PTEN is a tumor suppressor gene, which means it helps control the growth and division of cells. Inherited mutations in the PTEN gene have been found in about 80 percent of people with Cowden syndrome. These mutations prevent the PTEN protein from effectively regulating cell survival and division, which can lead to the formation of tumors. Cowden syndrome is one of several inherited diseases caused by mutations in the PTEN gene.
In the other 20 percent of Cowden syndrome cases, the cause is not yet known. Some of these cases may be caused by mutations in a region of DNA that regulates the activity of the PTEN gene. Others may have mutations in certain subunits of succinate dehydrogenase,[8] a mitochondrial enzyme.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new ("de novo") mutations in the gene. These cases occur in people with no history of the disorder in their family. It is characterized by numerous hamartomas, among other symptoms.
Treatment
Patients are usually managed by a multidisciplinary team including surgeons, gynecologists, and dermatologists because of the complex nature of this disorder. Follow-up for the increased risk of breast cancer risk includes monthly breast self-examination, annual breast examination, and mammography at age 30 or five years earlier than the youngest age of breast cancer in the family.[2] The magnitude of the risk of breast cancer justifies routine screening with breast MRI as per published guidelines.[9]
Notes
- ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
{{cite book}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - ^ a b c Eng, C. Genetics of Cowden syndrome: through the looking glass of oncology. Int J Oncol 1998 Mar;12(3):701-10.
- ^ Robbins & Cotran (2004). Pathological Basis of Disease, 7th Edition. Elsevier. p. 1134.
{{cite book}}: Cite has empty unknown parameter:|coauthors=(help) - ^ 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 Jan;29(1):47-53.
- ^ Eng, C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 2000 Nov;37(11):828-30.
- ^ Kay PS, Soetikno RM, Mindelzun R, Young HS. Diffuse esophageal glycogenic acanthosis: an endoscopic marker of Cowden's disease. Am J Gastroenterol. 1997 Jun;92(6):1038-40
- ^ Lloyd, KM.; Dennis, M. (1963), "Cowden's disease. A possible new symptom complex with multiple system involvement", Ann Intern Med, 58: 136–42
- ^ Ni Y; Zbuk KM; Sadler T; Patocs A; Lobo G; Edelman E; Platzer P; Orloff MS; Waite KA; Eng C. Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. Am J Hum Genet. 2008 Aug;83(2):261
- ^ Saslow D; Boetes C; Burke W; Harms S; Leach MO; Lehman CD; Morris E; Pisano E; Schnall M; Sener S; Smith RA; Warner E; Yaffe M; Andrews KS; Russell CA. American cancer society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin. 2007 Mar-Apr;57(2):75-89.
References
- de Jong MM, Nolte IM, te Meerman GJ, van der Graaf WT, Oosterwijk JC, Kleibeuker JH, Schaapveld M, de Vries EG (2002). "Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility". J Med Genet. 39 (4): 225–42. doi:10.1136/jmg.39.4.225. PMID 11950848.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - Eng C (2000). "Will the real Cowden syndrome please stand up: revised diagnostic criteria". J Med Genet. 37 (11): 828–30. doi:10.1136/jmg.37.11.828. PMID 11073535.
- Kelly P (2003). "Hereditary breast cancer considering Cowden syndrome: a case study". Cancer Nurs. 26 (5): 370–5. doi:10.1097/00002820-200310000-00005. PMID 14710798.
- Pilarski R, Eng C (2004). "Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome". J Med Genet. 41 (5): 323–6. doi:10.1136/jmg.2004.018036. PMID 15121767.
- Waite KA, Eng C (2002). "Protean PTEN: form and function". Am J Hum Genet. 70 (4): 829–44. doi:10.1086/340026. PMID 11875759.
- Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C (2003). "Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway". Am J Hum Genet. 73 (2): 404–11. doi:10.1086/377109. PMID 12844284.
{{cite journal}}: CS1 maint: multiple names: authors list (link)