同: FPC

WordNet

relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
a pass between mountain peaks (同)gap

PrepTutorEJDIC

家族の,家族特有の / 違伝的な,血統にあらわれる
(山脈の)鞍部(あんぶ),山あい

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2018/02/24 13:58:56」(JST)

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Gardner syndrome, also known as Gardner's syndrome or 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 Gardner syndrome 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.

The syndrome was first described in 1951.^[4] There is no cure at this time, 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.

Cause

Gardner syndrome is caused by mutation in the adenomatous polyposis coli (APC gene), located in chromosome 5q21 (band q21 on chromosome 5).^[2] This gene is also mutant in familial adenomatous polyposis (FAP), a more common disease that also predisposes to colon cancer. Nuances in the understanding of genetics have caused some disorders to be split into multiple entities, while others merged into one genetic condition. After most of the second half of the 20th century, Gardner syndrome has been merged into FAP and is now considered simply a phenotypic subtype of FAP.^[5]

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 familial adenomatous polyposis and may manifest as aggressive fibromatosis (desmoid tumors) of the retroperitoneum.^[6]

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]

Treatment

Treatment:wide excision taking 8mm normal tissue as this is locally malignant. For recurrence radiotherapy is given

Eponym

The syndrome is named for Eldon J. Gardner (1909–1989), a geneticist who first described it in 1951.^[7]

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.2012.01.004. PMC 3312056 . PMID 22370045.
^ "Gardner Syndrome". Cancer.net. American Society of Clinical Oncology. Retrieved 8 July 2016.
^ DeVita. Cancer, Principles and Practice of Oncology, 8th Ed. p. 1742.
^ 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. 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 [show details]
…manifestations and diagnosis of FAP and other hereditary CRC syndromes are discussed separately. Screening for tumors associated with familial adenomatous polyposis (FAP) should be performed in individuals …
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 [show details]
…essentially interchangeable . Turcot syndrome also known as brain tumor-polyposis syndrome is a historical term that originally described the association of familial colon cancer with brain tumors (primarily …
3. ガードナー症候群gardner syndrome [show details]
… Gardner syndrome refers to the constellation of inherited colonic adenomatosis polyposis (familial adenomatous polyposis, FAP) together with a number of extracolonic lesions. Gardner syndrome arises …
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 [show details]
… beta-catenin (both components of the Wnt signaling pathway) in the molecular pathogenesis of inherited desmoids (Gardner syndrome) as well as in sporadic cases . Sex hormones may also be actively involved in this …
5. 髄芽腫の組織病理的特徴、遺伝学的特徴、分子的サブグループhistopathology genetics and molecular subgroups of medulloblastoma [show details]
… separately. Familial adenomatous polyposis (FAP) is an autosomal dominant condition caused by inactivating mutations in the adenomatous polyposis coli (APC) gene on chromosome 5. A germline mutation in …

English Journal

An immunohistochemical approach to detect oncogenic CTNNB1 mutations in primary neoplastic tissues.

Akyol A1,2,3,4, Güner G5,6, Özşeker HS5,7, Işık A8, Atcı Ö9, Uzun S10, Atayar E11, Ozaltin F11, Gedikoğlu G5, Sökmensüer C5, Fearon ER12.
Laboratory investigation; a journal of technical methods and pathology.Lab Invest.2019 Jan;99(1):128-137. doi: 10.1038/s41374-018-0121-9. Epub 2018 Sep 3.
PMID 30177831

Cenani-Lenz syndrome and other related syndactyly disorders due to variants in LRP4, GREM1/FMN1, and APC: Insight into the pathogenesis and the relationship to polyposis through the WNT and BMP antagonistic pathways.

Al-Qattan MM1,2, Alkuraya FS3,4.
American journal of medical genetics. Part A.Am J Med Genet A.2018 Dec 20. doi: 10.1002/ajmg.a.60694. [Epub ahead of print]
PMID 30569497

Acute Pancreatitis Caused by Ampullary Duodenum Adenoma in a Patient with Adenomatous Polyposis Coli with Billroth II Reconstruction After Distal Gastrectomy.

Iemoto T1, Sanuki T1, Ose T1, Yoshie T1, Tanaka K1, Sasaki A1, Abe S1, Abe T1, Miki M1, Futai R1, Inoue Y1.
The American journal of case reports.Am J Case Rep.2018 Dec 15;19:1495-1498. doi: 10.12659/AJCR.912248.
PMID 30552312

Japanese Journal

家族性大腸腺腫症術後35年目に発生した回腸人工肛門部癌の1例

星野大樹,石井良幸,長谷川博俊,遠藤高志,落合大樹,星野好則,松永篤志,茂田浩平,瀬尾雄樹,星野剛,向井万起男,北川雄光
日本大腸肛門病学会雑誌 65(3), 118-123, 2012-03-01
NAID 10030359854

家族性大腸腺腫症術後35年目に発生した回腸人工肛門部癌の1例

星野大樹,石井良幸,長谷川博俊,遠藤高志,落合大樹,星野好則,松永篤志,茂田浩平,瀬尾雄樹,星野剛,向井万起男,北川雄光
日本大腸肛門病学会雑誌 65(3), 118-123, 2012
症例は78歳の男性で，43歳時に肛門管癌合併の家族性大腸腺腫症（以下，FAP）に対し大腸全摘・単孔式永久回腸人工肛門造設術が施行された．61歳時には胃腺腫症に対し幽門側胃切除術が施行された．その後，人工肛門からの出血を認めたため近医を受診したところ，人工肛門粘膜に結節病変を指摘された．生検で中分化管状腺癌と診断されたため，当院を紹介され受診した．小腸内視鏡検査，小腸造影検査，体幹CT検査では，人工 …
NAID 130002123536

Birt-Hogg-Dubé Syndrome and Familial Adenomatous Polyposis: An Association or a Coincidence?

Kashiwada Takeru,Shimizu Hidefumi,Tamura Kazuo,Seyama Kuniaki,Horie Yoshimasa,Mizoo Akira
Internal Medicine 51(13), 1789-1792, 2012
… The 60-year-old woman was diagnosed at 28 years of age with colon carcinoma and familial adenomatous polyposis (FAP). … We confirmed the presence of germline mutations in both her folliculin (FLCN) and adenomatous polyposis coli (APC) genes. …
NAID 130002062197

Related Pictures

Familial adenomatous polyposis - Wikipedia Adenomatous polyposis coli | definition of adenomatous polyposis coli by Medical 03 small bowel and colon at University Of Minnesota Medical School - StudyBlue Gross Pathology images of Intestine-large by PathPedia.com: Pathology e-Atlas Familial Polyposis Coli Gastrointestinal Pathology 先週の病理診断 | Ishida@Kushiro

★リンクテーブル★

リンク元	「家族性大腸腺腫症」「FPC」
関連記事	「familial」「coli」「polyposis」

「家族性大腸腺腫症」

Gardner syndrome
Classification and external resources
OMIM	175100
DiseasesDB	5094
MedlinePlus	000266
eMedicine	med/2712 derm/163
MeSH	D005736
Orphanet	79665
	[edit on Wikidata]