ターコット症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- (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
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/09/22 10:22:29」(JST)
[Wiki en表示]
| Mismatch repair cancer syndrome |
| Classification and external resources |
| OMIM |
276300 |
| DiseasesDB |
29793 |
| eMedicine |
ped/828 |
Mismatch repair cancer syndrome (MMRCS) is a cancer syndrome associated with biallelic DNA mismatch repair mutations.[1] It is also known as Turcot syndrome after Jacques Turcot who described the condition in 1959.
Contents
- 1 Genetics
- 2 Synonyms
- 3 See also
- 4 References
- 5 External links
Genetics
Under the name constitutional mismatch repair-deficiency, (CMMR-D), it has been mapped to MLH1, MSH2, MSH6 or PMS2.[2] Although these are the same genes mutated in the condition known as Lynch syndrome or hereditary nonpolyposis colorectal cancer, the mutations are biallelic in CMMR-D.[3]
The term "childhood cancer syndrome" has also been proposed.[4][5]
Café-au-lait macules have been observed.[6]
Synonyms
- Brain tumor-polyposis syndrome
- Glioma-polyposis syndrome
- OMIM currently includes "Turcot syndrome" under Mismatch repair cancer syndrome. Turcot syndrome is the association between familial polyposis of the colon and brain tumors[7] like medulloblastoma, malignant glioma. It was first reported by Canadian surgeon Jacques Turcot (1914- ) et al. in 1959 and hence carries the first author's name.[8]
See also
- Gardner syndrome is an association of hereditary intestinal polyps, osteomas (typically of the skull), papillary thyroid cancer, and desmoid tumors.
References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 276300
- ^ Kratz CP, Holter S, Etzler J et al. (June 2009). "Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome". J. Med. Genet. 46 (6): 418–20. doi:10.1136/jmg.2008.064212. PMID 19293170.
- ^ Wimmer K, Etzler J (September 2008). "Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?". Hum. Genet. 124 (2): 105–22. doi:10.1007/s00439-008-0542-4. PMID 18709565.
- ^ Krüger S, Kinzel M, Walldorf C et al. (January 2008). "Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1". Eur. J. Hum. Genet. 16 (1): 62–72. doi:10.1038/sj.ejhg.5201923. PMID 17851451.
- ^ Tan TY, Orme LM, Lynch E et al. (March 2008). "Biallelic PMS2 mutations and a distinctive childhood cancer syndrome". J. Pediatr. Hematol. Oncol. 30 (3): 254–7. doi:10.1097/MPH.0b013e318161aa20. PMID 18376293.
- ^ Jackson CC, Holter S, Pollett A et al. (June 2008). "Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2". Pediatr Blood Cancer 50 (6): 1268–70. doi:10.1002/pbc.21514. PMID 18273873.
- ^ "Turcot syndrome" at Dorland's Medical Dictionary
- ^ Turcot J, Després JP, St. Pierre F (1959). "Malignant tumors of the central nervous system associated with familial polyposis of the colon and bright green urine which may be related to vegetables in the diet: report of two cases". Dis. Colon Rectum 2: 465–8. PMID 13839882.
External links
- synd/3528 at Who Named It?
- Turcot syndrome; CNS tumors with Familial polyposis of the colon at NIH's Office of Rare Diseases
- Cancer.Net: Turcot Syndrome
|
Digestive system neoplasia (C15–C26/D12–D13, 150–159/211)
|
|
| GI tract |
| Upper |
| Esophagus |
- Squamous cell carcinoma
- Adenocarcinoma
|
|
| Stomach |
- Gastric carcinoma
- Signet ring cell carcinoma
- Gastric lymphoma
- Linitis plastica
|
|
|
| Lower |
| Small intestine |
|
|
| Appendix |
- Carcinoid
- Pseudomyxoma peritonei
|
|
| Colon/rectum |
- colorectal polyp: Peutz–Jeghers syndrome
- Juvenile polyposis syndrome
- Familial adenomatous polyposis/Gardner's syndrome
- Cronkhite–Canada syndrome
- neoplasm: Adenocarcinoma
- Familial adenomatous polyposis
- Hereditary nonpolyposis colorectal cancer
|
|
| Anus |
|
|
|
| Upper and/or lower |
- Gastrointestinal stromal tumor
- Krukenberg tumor (metastatic)
|
|
|
| Accessory |
| Liver |
- malignant: Hepatocellular carcinoma
- Hepatoblastoma
- benign: Hepatocellular adenoma
- Cavernous hemangioma
- hyperplasia: Focal nodular hyperplasia
- Nodular regenerative hyperplasia
|
|
| Biliary tract |
- bile duct: Cholangiocarcinoma
- Klatskin tumor
- gallbladder: Gallbladder cancer
|
|
| Pancreas |
- exocrine pancreas: Adenocarcinoma
- Pancreatic ductal carcinoma
- cystic neoplasms: Serous microcystic adenoma
- Intraductal papillary mucinous neoplasm
- Mucinous cystic neoplasm
- Solid pseudopapillary neoplasm
|
|
|
| Peritoneum |
- Primary peritoneal carcinoma
- Peritoneal mesothelioma
- Desmoplastic small round cell tumor
|
|
|
Index of digestion
|
|
| Description |
- Anatomy
- Physiology
- Development
|
|
| Disease |
- Congenital
- Neoplasms and cancer
- Inflammatory bowel disease
- Gluten sensitivity
- Other
- Symptoms and signs
- Blood tests
|
|
| Treatment |
- Procedures
- Drugs
- anabolic steroids
- antacids
- diarrhoea and infection
- bile and liver
- functional gastrointestinal disorders
- laxatives
- peptic ulcer and reflux
- nausea and vomiting
- other
- Surgery
|
|
|
|
Metabolic disease: DNA replication and DNA repair-deficiency disorder
|
|
| DNA replication |
- Separation/initiation: RNASEH2A
- Aicardi–Goutières syndrome 4
- Termination/telomerase: DKC1
|
|
| DNA repair |
| Nucleotide excision repair |
- Cockayne syndrome/DeSanctis–Cacchione syndrome
- Thymine dimer
- IBIDS syndrome
|
|
| MSI/DNA mismatch repair |
- Hereditary nonpolyposis colorectal cancer
- Muir–Torre syndrome
- Mismatch repair cancer syndrome
|
|
| MRN complex |
- Ataxia telangiectasia
- Nijmegen breakage syndrome
|
|
| Other |
- RecQ helicase
- Bloom syndrome
- Werner syndrome
- Rothmund–Thomson syndrome/Rapadilino syndrome
- Fanconi anemia
- Li-Fraumeni syndrome
- Severe combined immunodeficiency
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|
|
|
Index of genetics
|
|
| Description |
- Gene expression
- DNA
- replication
- cycle
- recombination
- repair
- binding proteins
- Transcription
- factors
- regulators
- nucleic acids
- RNA
- RNA binding proteins
- ribonucleoproteins
- repeated sequence
- modification
- Translation
- ribosome
- modification
- nexins
- Proteins
- domains
- Structure
- primary
- secondary
- tertiary
- quaternary
|
|
| Disease |
- Replication and repair
- Transcription factor
- Transcription
- Translation
|
|
|
UpToDate Contents
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English Journal
- A potential life-saving diagnosis--recognizing Turcot syndrome.
- Gorovoy IR1, de Alba Campomanes A2.
- Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus.J AAPOS.2014 Apr;18(2):186-8. doi: 10.1016/j.jaapos.2013.09.018.
- A previously healthy 9-year-old girl presented with ataxia, headaches, and nausea of 1 month's duration. Magnetic resonance imaging demonstrated a large posterior fossa mass. Posterior segment examination revealed pigmented ocular fundus lesions (POFLs), which included cometoid dark lesions with dep
- PMID 24698620
- A novel APC gene mutation associated with a severe phenotype in a patient with Turcot syndrome.
- Fritch Lilla SA1, Yi JS, Hall BA, Moertel CL.
- Journal of pediatric hematology/oncology.J Pediatr Hematol Oncol.2014 Apr;36(3):e177-9. doi: 10.1097/MPH.0000000000000009.
- Turcot syndrome is a rare inherited condition of colonic polyposis associated with central nervous system tumors. We report a patient with a novel adenomatous polyposis coli gene mutation leading to a severe phenotype including medulloblastoma, low-grade fibromyxoid sarcoma following cranial radiati
- PMID 24309598
- Differentiating Lynch-like from Lynch syndrome.
- Carethers JM.
- Gastroenterology.Gastroenterology.2014 Mar;146(3):602-4. doi: 10.1053/j.gastro.2014.01.041. Epub 2014 Jan 24.
- PMID 24468183
Japanese Journal
- 脳幹腫瘍寛解後に大腸腺腫症・大腸癌を発症した Turcot 症候群の1例
- 上野 誠,岡 明,杉浦 千登勢 [他],前垣 義弘,大野 耕策,大谷 恭一
- 日本小児科学会雑誌 109(11), 1369-1372, 2005-11-01
- NAID 10020415272
- Molecular Analysis of Astrocytoma Associated With Turcot Syndrome Type 1 : Case Report
- OKAMOTO Hiroaki,MINETA Toshihiro,NAKAHARA Yukiko,ICHINOSE Makoto,SHIRAISHI Tetsuya,TABUCHI Kazuo
- Neurologia medico-chirurgica 44(3), 124-128, 2004-03-15
- … The patient had been treated under diagnoses of hereditary non-polyposis colorectal cancer syndrome and Muir-Torre syndrome. … The final diagnosis was Turcot syndrome type 1. …
- NAID 110002283486
- がん遺伝子診療の現状 消化管の遺伝性・家族性腫ようと画像データベースの活用
- 牛尾 恭輔,黒岩 俊郎,井野 彰治,岩下生 久子,和田 進
- 医療 57(6), 376-384, 2003
- … 消化管腫瘍の中には, 家族性大腸ポリポーシス, Gardner症候群, Turcot症候群, 遺伝性非ポリポーシス大腸癌, Peutz-Jeghers症候群, 若年性ポリポーシス, Cowden病などの遺伝性腫瘍がある. …
- NAID 130004107730
Related Links
- What is Turcot syndrome? Turcot syndrome is a condition in which cells become abnormal and form masses called polyps. A polyp is benign, meaning noncancerous, but can eventually turn malignant. If a polyp becomes malignant ...
- It is an advocacy group for families who have any one of the inherited forms of colon cancer, which include familial adenomatous polyposis or Gardner syndrome (FAP/GS), juvenile polyposis (JP), Peutz-Jeghers syndrome, hereditary ...
★リンクテーブル★
[★]
- 英
- gastrointestinal polyposis, polyposis of the alimentary tract
- 関
- ポリポーシス、消化管ポリープ
消化管ポリポーシス
QB.A-396改変
SSUR.545
-
[★]
- 英
- familial adenomatous polyposis, FAP
- 同
- 家族性大腸ポリポーシス ,familial polyposis coli, FPC, 家族性大腸ポリープ症, familial adenomatous polyposis coli
- 家族性ポリポーシス familial polyposis syndrome familial polyposis
- 関
- 大腸ポリポーシス
- familial polyposis syndrome
概念
- 癌抑制遺伝子APC geneのloss of functionにより、大腸全体にびまん性に腺腫を生ずる。
分類
- 家族性大腸腺腫症のうち、以下の合併症を伴う物はそれぞれ家族性大腸腺腫症の下位概念として名称が与えられている
-
- SSUR.546によると、Garder症候群 ≒ 家族性大腸腺腫症。すなわち「古典的なGardner症候群の類似疾患である」(SSUR.546)
病因
疫学
遺伝形式
病変形成＆病理
症状
合併症
- 消化管：大腸。60-70%の症例で → 小腸・胃(胃底腺領域)・十二指腸
- 消化管外：顎骨内骨腫、顎骨以外の骨病変、網膜色素斑、体表の軟部組織腫瘍、デスモイド腫瘍、歯牙腫、甲状腺癌、子宮癌
診断
検査
治療
予後
- 大腸癌は20歳ごろから発生、40歳で50%リスク、60歳でほぼ全例。癌により死亡する平均の年齢は42歳。(YN.A-74)
予防
[★]
- 英
- Turcot syndrome
- 同
- Turcot症候群、神経膠腫-ポリポーシス症候群
- 関
- 家族性大腸腺腫症、ガードナー症候群。遺伝性神経系腫瘍症候群
概念
- 結腸のポリポーシスに中枢神経腫瘍を伴った疾患 The appearance of malignant tumors of the central nervous system accompanying polyposis coli (HIM.574)
遺伝形式
病因
- APC遺伝子の変異による？？
- ミスマッチ修復遺伝子の異常による？
- はっきりしたことはかかれていない(参考1)
参考
- 1. FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 - OMIM
- http://omim.org/entry/175100
- 2. [charged] Clinical features and diagnosis of familial adenomatous polyposis - uptodate [1]
[★]