WordNet

a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
writer of detective novels featuring Perry Mason (1889-1970) (同)Erle Stanley Gardner
United States collector and patron of art who built a museum in Boston to house her collection and opened it to the public in 1903 (1840-1924) (同)Isabella Stewart Gardner

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(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/07/31 23:10:32」(JST)

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Gardner syndrome, also known as familial colorectal polyposis,^[1] is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon.^[2] The extracolonic tumors may include osteomas of the skull, thyroid cancer, epidermoid cysts, fibromas,^[3] as well as the occurrence of desmoid tumors in approximately 15% of affected individuals.

Desmoid tumors are fibrous tumors which usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. 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. The number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon.

It was first described in 1951.^[4] 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 has an autosomal dominant pattern of inheritance.

Gardner syndrome is inherited in an autosomal dominant manner.^[2] 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).^[2] 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 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 (APC) on chromosome 5.^[4]

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 tumors arise most frequently from the aponeurosis of the rectus abdominal muscle of multiparous 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.^[4]

Eponym

The syndrome is named for Eldon J. Gardner (1909–1989), a geneticist who first described it in 1951.^[6]

References

^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
^ ^a ^b ^c Online 'Mendelian Inheritance in Man' (OMIM) 175100
^ Luba MC, Bangs SA, Mohler AM, Stulberg DL (February 2003). "Common benign skin tumors". Am Fam Physician 67 (4): 729–38. PMID 12613727.
^ ^a ^b ^c 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. PMC 3312056. PMID 22370045.
^ DeVita: Cancer, Principles and Practice of Oncology, 8th Ed.p1742
^ Gardner EJ (June 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.

External links

Gardner syndrome at NIH's Office of Rare Diseases
Cancer.net Gardner Syndrome

UpToDate Contents

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1. ガードナー症候群 gardner syndrome
2. 家族性腺腫性ポリポーシスの臨床症状および診断 clinical manifestations and diagnosis of familial adenomatous polyposis
3. 心因性紫斑病（ガードナーダイヤモンド症候群） psychogenic purpura gardner diamond syndrome
4. デスモイド腫瘍：疫学、危険因子、分子学的病因、臨床症状、診断、および局所療法 desmoid tumors epidemiology risk factors molecular pathogenesis clinical presentation diagnosis and local therapy
5. 家族性腺腫性ポリポーシス：患者および家族のスクリーニングおよびマネージメント familial adenomatous polyposis screening and management of patients and families

English Journal

Gender differences in the prevalence and management of metabolic syndrome and its components in patients with peripheral artery disease.

Nael R, Montgomery PS, Scott KJ, Blevins SM, Gardner AW.Source1Cardiovascular Section, Department of Medicine, Oklahoma University Health Sciences Center (OUHSC), Oklahoma City, OK, USA.
Angiology.Angiology.2011 Nov;62(8):657-61. Epub 2011 Apr 20.
We compared the prevalence and management of metabolic syndrome (MetS) and its components in men and women with peripheral artery disease (PAD). A total of 70 men and 70 women with PAD were evaluated for presence of MetS. There was no significant gender difference in presence of MetS (P = .399) and
PMID 21511682

Randomized Placebo-Controlled Phase II Trial of Perifosine Plus Capecitabine As Second- or Third-Line Therapy in Patients With Metastatic Colorectal Cancer.

Bendell JC, Nemunaitis J, Vukelja SJ, Hagenstad C, Campos LT, Hermann RC, Sportelli P, Gardner L, Richards DA.SourceJohanna C. Bendell, Sarah Cannon Research Institute, Nashville, TN; John Nemunaitis, Mary Crowley Cancer Research Center, Dallas; Sasha J. Vukelja and Donald A. Richards, Texas Oncology, Tyler; Luis T. Campos, Oncology Consultants, Houston, TX; Christopher Hagenstad, Suburban Hematology/Oncology, Lawrenceville; Robert C. Hermann, Northwest Georgia Oncology Center, Marietta, GA; and Peter Sportelli and Lesa Gardner, Keryx Biopharmaceuticals, New York, NY.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology.J Clin Oncol.2011 Oct 3. [Epub ahead of print]
PURPOSEIn a multicenter, double-blind phase II trial, we compared the efficacy and safety of perifosine plus capecitabine (P-CAP) with placebo plus capecitabine (CAP) in patients with metastatic colorectal cancer (mCRC) who had progressed after as many as two prior therapies. PATIENTS AND METHODSPat
PMID 21969495

Japanese Journal

経過中に腸間膜巨大デスモイド腫瘍が発生しAPC遺伝子異常が確認された孤発性 Gardner 症候群の1症例

田中花林,芹澤宏,首村智久,森永正二郎,常松令,中野雅,樋口肇,渡辺憲明,熊谷直樹,土本寛二,日比紀文
日本大腸肛門病学会雑誌 63(7), 419-425, 2010-07-01
… 一部合併切除，右半結腸切除，上腸間膜動脈再建術を施行し，病理組織学的に腸間膜デスモイド腫瘍（線維腫症）と診断された．また，入院時の血液検査にてAPC遺伝子の変異が確認された．術後は内視鏡および画像検査にて経過観察しているが5年以上経過するも再発はみとめられていない．本症例は経過中に腸間膜デスモイド腫瘍を合併し，APC遺伝子異常が確認された孤発性Gardner症候群で興味深い症例と考えられた． …
NAID 10026919436

大腸ポリポーシスと腸間膜デスモイド腫瘍に対して tamoxifen と sulindac が長期間奏効している Gardner 症候群の1例

向川智英,藤井久男,小山文一,中川正,内本和晃,大槻憲一,中村信治,中島祥介
日本大腸肛門病学会雑誌 63(2), 68-74, 2010-02-01
… は50歳代，女性．1995年10月，前医でS状結腸癌による腸閉塞と診断され緊急手術．術中にはじめて大腸ポリポーシス，また同時に微小肝転移を指摘され，S状結腸切除，肝部分切除術を施行．術後精査の結果，Gardner症候群と診断され，残存する大腸ポリープに対して定期的に内視鏡的治療が行われた．1997年初旬，腹部腫瘤を指摘され当院に紹介．長径7cm大の腸間膜デスモイド腫瘍と診断され，同年6月，手術施行．腫瘍は …
NAID 10026313778

Related Pictures

★リンクテーブル★

リンク元	「消化管ポリポーシス」「家族性大腸腺腫症」「ガードナー症候群」
関連記事	「syndrome」

「消化管ポリポーシス」

Gardner syndrome
Classification and external resources
OMIM	175100
DiseasesDB	5094
MedlinePlus	000266
eMedicine	med/2712 derm/163
MeSH	D005736

　　[★]

英: gastrointestinal polyposis, polyposis of the alimentary tract
関: ポリポーシス、消化管ポリープ