Gardner's syndrome: Difference between revisions
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*[http://www.cancer.net/patient/Cancer+Types/Gardner+Syndrome Cancer.net Gardner Syndrome] |
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Revision as of 15:33, 9 April 2012
| Gardner's syndrome | |
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| Specialty | Gastroenterology, oncology, medical genetics  |
Gardner syndrome which was first described in 1953 consists of adenomatous polyps of the gastrointestinal tract, desmoid tumours, osteomas, epidermoid cysts, lipomas, dental abnormalities and periampullary carcinomas.The incidence of the syndrome is 1:14,025 with an equal sex distribution. It is determined by the autosomal dominant familial polyposis coli gene on chromosome 5.[1]
Gardner syndrome, also known as familial colorectal polyposis,[2] is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon.[3] The extracolonic tumors may include osteomas of the skull, thyroid cancer, epidermoid cysts, fibromas and sebaceous cysts,[4] as well as the occurrence of desmoid tumors in approximately 15% of affected individuals. The countless polyps in the colon predispose to the development of colon cancer; if the colon is not removed, the chance of colon cancer is considered to be very significant. Polyps may also grow in the stomach, duodenum, spleen, kidneys, liver, mesentery and small bowel. In a small number of cases, polyps have also appeared in the cerebellum. Cancers related to GS commonly appear in the thyroid, liver and kidneys.
At this time, there is no cure, and in its more advanced forms, it is considered a terminal diagnosis with a life expectancy of 35–45 years; treatments are surgery and palliative care, although some chemotherapy has been tried with limited success.[citation needed]
Genetics
Gardner syndrome is inherited in an autosomal dominant manner.[3] Typically, one parent has Gardner syndrome. Each of their children, male and female alike, are at 50% risk of inheriting the gene for Gardner syndrome. The risk increases in each succeeding generation, as affected occurs (cluster studies appear by registry).
Cause
Gardner syndrome is now known to be caused by mutation in the APC gene located in chromosome 5q21 (band q21 on chromosome 5).[3] This is the same gene as is mutant in familial adenomatous polyposis (FAP), a more common disease that also predisposes to colon cancer. New genetic and molecular information has caused some genetic disorders to be split into multiple entities while other genetic disorders merge into one condition. After existing for most of the second half of the 20th century, Gardner syndrome has vanished as a separate entity. It has been merged into familial adenomatous polyposis (FAP) and is now considered simply a phenotypic variant of FAP.
Diagnosis
Gardner syndrome can be identified based on oral findings, including multiple impacted and supernumerary teeth, multiple jaw osteomas which give a "cotton-wool" appearance to the jaws, as well as multiple odontomas, congenital hypertrophy of the retinal pigment epithelium (CHRPE), in addition to multiple adenomatous polyps of the colon. Gardner syndrome is also associated with FAP (Familial Adenomatous Polyposis) and may manifest as aggressive fibromatosis (desmoid tumors) of the retroperitoneum.[5]
Desmoid tumours (mammary fibromatosis) arise most frequently from the aponeurosis of the rectus abdominal muscle of multipara women.The extra-abdominal form is rare and desmoids of the breast may arise in the mammary gland or may occur as an extension of a lesion arising from the muscles of the chest wall. The incidence of mammary desmoid tumours is less than 0.2% of primary breast neoplasms. In Gardner’s syndrome the incidence ranges from 4% to 17%. Desmoid tumours associated with Gardner’s syndrome have been shown to have an alteration of the �β-catenin pathway and over express �β-catenin. [1]
Eponym
The syndrome is named for Eldon J. Gardner (1909–1989), a college teacher of genetics, who first described it in 1951.[6]
See also
References
- ^ a b Rammohan A, Wood JJ (2012). "Desmoid tumour of the breast as a manifestation of Gardner's syndrome". Int J Surg Case Rep. 3 (5): 139–142. doi:10.1016/j.ijscr.2012.01.00.
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
{{cite book}}: CS1 maint: multiple names: authors list (link) - ^ a b c Online Mendelian Inheritance in Man (OMIM): 175100
- ^ Luba MC, Bangs SA, Mohler AM, Stulberg DL (2003). "Common benign skin tumors". Am Fam Physician. 67 (4): 729–38. PMID 12613727.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ DeVita: Cancer, Principles and Practice of Oncology, 8th Ed.p1742
- ^ Gardner EJ (1951). "A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum". Am. J. Hum. Genet. 3 (2): 167–76. PMC 1716321. PMID 14902760.
{{cite journal}}: Unknown parameter|month=ignored (help)
External links
- Gardner syndrome at NIH's Office of Rare Diseases
- Cancer.net Gardner Syndrome
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