hereditary nonpolyposis colon cancer

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遺伝性非ポリポーシス大腸癌 HNPCC

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2014/07/05 22:57:00」(JST)

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英文文献

  • Lynch syndrome: a pediatric perspective.
  • Huang SC1, Durno CA, Erdman SH.Author information 1*Department of Pediatrics, Division of Gastroenterology, Hepatology, and Nutrition, University of California, San Diego †Department of Pediatrics, Division of Gastroenterology/Hepatology and Nutrition, Hospital for Sick Children, University of Toronto, Toronto, Canada ‡Division of Gastroenterology, Hepatology, and Nutrition, Nationwide Children's Hospital, Columbus, OH.AbstractColorectal cancer is a rare disease in the pediatric age group and, when present, suggests an underlying genetic predisposition. The most common hereditary colon cancer susceptibility condition, Lynch syndrome (LS), previously known as hereditary nonpolyposis colorectal cancer, is an autosomal dominant condition caused by a germline mutation in 1 of 4 DNA mismatch repair (MMR) genes: MLH1, MSH2, MSH6, or PMS2. The mutation-prone phenotype of this disorder is associated with gastrointestinal, endometrial, and other cancers and is now being identified in both symptomatic adolescents with malignancy as well in asymptomatic mutation carriers who are at risk for a spectrum of gastrointestinal and other cancers later in life. We review the DNA MMR system, our present understanding of LS in the pediatric population, and discuss the newly identified biallelic form of the disease known as constitutional mismatch repair deficiency syndrome. Both family history and tumor characteristics can help to identify patients who should undergo genetic testing for these cancer predisposition syndromes. Patients who carry either single allele (LS) or double allele (constitutional mismatch repair deficiency syndrome) mutations in the MMR genes benefit from cancer surveillance programs that target both the digestive and extraintestinal cancer risk of these diseases. Because spontaneous mutation in any one of the MMR genes is extremely rare, genetic counseling and testing are suggested for all at-risk family members.
  • Journal of pediatric gastroenterology and nutrition.J Pediatr Gastroenterol Nutr.2014 Feb;58(2):146-54. doi: 10.1097/MPG.0000000000000179.
  • Colorectal cancer is a rare disease in the pediatric age group and, when present, suggests an underlying genetic predisposition. The most common hereditary colon cancer susceptibility condition, Lynch syndrome (LS), previously known as hereditary nonpolyposis colorectal cancer, is an autosomal domin
  • PMID 24051481
  • Lynch syndrome presenting as endometrial cancer.
  • Tafe LJ1, Riggs ER, Tsongalis GJ.Author information 1Departments of Pathology and.AbstractBACKGROUND: Lynch syndrome (LS) is the most common form of the hereditary colon cancer syndromes. Because of its high prevalence, a nationwide campaign has begun to screen all colorectal cancers for the genetic abnormalities associated with LS.
  • Clinical chemistry.Clin Chem.2014 Jan;60(1):111-21. doi: 10.1373/clinchem.2013.206888. Epub 2013 Nov 5.
  • BACKGROUND: Lynch syndrome (LS) is the most common form of the hereditary colon cancer syndromes. Because of its high prevalence, a nationwide campaign has begun to screen all colorectal cancers for the genetic abnormalities associated with LS.CONTENT: Next to colorectal cancer, endometrial cancer i
  • PMID 24193118
  • Metachronous serrated neoplasia is uncommon after right colectomy in patients with methylator colon cancers with a high degree of microsatellite instability.
  • Messick CA1, Kravochuck S, Church JM, Kalady MF.Author information 11Department of Colorectal Surgery, Digestive Disease Institute, Cleveland Clinic, Cleveland, Ohio 2Sanford R. Weiss, M.D., Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, Ohio 3Department of Cancer Biology, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio.AbstractBACKGROUND: Right-sided serrated polyps are precursors to sporadic microsatellite unstable colon cancers via the methylator pathway and have a high rate of synchronous and metachronous lesions. Serrated polyps also occur in Lynch syndrome, where right-sided microsatellite unstable cancers arise from germline mutations in mismatch repair genes.
  • Diseases of the colon and rectum.Dis Colon Rectum.2014 Jan;57(1):39-46. doi: 10.1097/01.dcr.0000437690.18709.76.
  • BACKGROUND: Right-sided serrated polyps are precursors to sporadic microsatellite unstable colon cancers via the methylator pathway and have a high rate of synchronous and metachronous lesions. Serrated polyps also occur in Lynch syndrome, where right-sided microsatellite unstable cancers arise from
  • PMID 24316944

和文文献

  • 1) ゲノム不安定性・遺伝子変異に基づく子宮体癌の浸潤能獲得と分子生物学的予後不良因子の検討(シンポジウム1:腫瘍「婦人科癌の浸潤・転移機構の解明と臨床応用」,第65回日本産科婦人科学会・学術講演会講演要旨)
  • 遺伝性非ポリポーシス大腸癌に異時性両側上部尿路癌と膀胱癌を合併した1例
  • 肛門側ほど癌化傾向を示した同時性多発大腸腫瘍の1例

関連リンク

hereditary nonpolyposis colon cancer (heh-REH-dih-tayr-ee non-PAH-lee-POH-sis KOH-lun KAN-ser) listen An inherited disorder in which affected individuals have a higher-than-normal chance of developing colorectal cancer and ...
hereditary nonpolyposis colon cancer Lynch I syndrome Oncology A relatively distinct AD form of cancer that may account for 5-10% of all colorectal CA Clinical Family Hx of colorectal CA at relatively young age, primarily of proximal ...

関連画像

 hereditary nonpolyposis colorectal cancerHereditary NonPolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Cancer


★リンクテーブル★
先読み遺伝性非ポリポーシス大腸癌
リンク元」「Lynch syndrome」「HNPCC
関連記事colon」「Cancer」「cancer」「hereditary」「col

遺伝性非ポリポーシス大腸癌」

  [★]

hereditary nonpolyposis colorectal cancer, HNPCC
リンチ症候群 Lynch syndrome
大腸癌家族性大腸ポリポーシス
  • first aid step1 2006 p.277

概念

  • 若年~中年で大腸癌を発症する疾患
  • ミスマッチ修復遺伝子の変異と関係がある。

疫学

  • 日本の全大腸癌に対するHNPCCの割合は0.2-4% (YN.A-85)
  • 50歳ごろに発症。

病因

  • HNPCCの素因のある人は50歳までに大腸癌を発症する。女性では子宮体癌、卵巣癌のリスクもある。
  • 90%の症例でミスマッチ遺伝子の変異と関係がある。
  • hMSH2、hMLH1、hPSM1、hPMS2、hMSH6など
  • G2期でミスマッチ修復に関わる、HNPCCの腫瘍細胞では、塩基の反復の不安定性が特徴的である。
  • 浸透率:約80%。腺腫の合併:約10%。

遺伝形式

病態

  • 脾彎曲部より近位側の右側結腸に好発

合併症

予後

  • 散発性大腸癌より良好

参考

  • 1. wiki ja
[display]http://ja.wikipedia.org/wiki/%E9%81%BA%E4%BC%9D%E6%80%A7%E9%9D%9E%E3%83%9D%E3%83%AA%E3%83%9D%E3%83%BC%E3%82%B7%E3%82%B9%E5%A4%A7%E8%85%B8%E7%99%8C

uptodate

  • 1. [charged] 大腸癌の分子遺伝学 - uptodate [1]
  • 2. [charged] リンチ症候群(遺伝性非ポリポーシス大腸癌)の臨床的特徴および診断 - uptodate [2]
  • 3. [charged] リンチ症候群(遺伝性非ポリポーシス性大腸癌):患者および家族のスクリーニングおよび管理 - uptodate [3]
  • 4. [charged] リンチ症候群(遺伝性非ポリポーシス性大腸癌)の女性における子宮体癌および卵巣癌のスクリーニングおよび予防 - uptodate [4]

国試


癌」

  [★]

cancer
悪性腫瘍


種類

  • 癌腫(carcinoma):上皮性
  • 肉腫(sarcoma):間葉系
  • carcinoma:腺癌(adenocarcinma)、扁平上皮癌(squamous cell carcinoma)、移行上皮癌(transitional cell carcinoma)
  • sarcoma:骨肉腫、横紋筋肉腫、平滑筋肉腫、脂肪肉腫、線維肉腫

Neoplasm Causes Effect
Small cell lung carcinoma ACTH or ACTH-like peptide Cushing’s syndrome
Small cell lung carcinoma and intracranial neoplasms ADH SIADH
Squamous cell lung carcinoma, renal cell carcinoma, breast carcinoma, multiple myeloma, and bone metastasis (lysed bone) PTH-related peptide, TGF-β, TNF-α, IL-1 Hypercalcemia
Renal cell carcinoma, hemangioblastoma Erythropoietin Polycythemia
Thymoma, small cell lung carcinoma Antibodies against presynaptic Ca2+ channels at neuromuscular junction Lambert-Eaton syndrome (muscle weakness)
Leukemias and lymphomas Hyperuricemia due to excess nucleic acid turnover (i.e., cytotoxic therapy) Gout, urate nephropathy
  • 最新癌統計
http://ganjoho.ncc.go.jp/public/statistics/pub/statistics01.html
●2005年の死亡数が多い部位は順に
  1位 2位 3位 4位 5位  
男性 肝臓 結腸 膵臓 結腸と直腸を合わせた大腸は4位
女性 結腸 肝臓 乳房 結腸と直腸を合わせた大腸は1位
男女計 肝臓 結腸 膵臓 結腸と直腸を合わせた大腸は3位
 
●2001年の罹患数が多い部位は順に
  1位 2位 3位 4位 5位  
男性 結腸 肝臓 前立腺 結腸と直腸を合わせた大腸は2位
女性 乳房*1 結腸 子宮*1 結腸と直腸を合わせた大腸は1位
男女計 結腸 乳房*1 肝臓 結腸と直腸を合わせた大腸は2位
*1上皮内がんを含む。


癌の素因となる遺伝子

HIM.494
Table 79-1 Cancer Predisposition Syndromes and Associated Genes
Syndrome Gene Chromosome Inheritance Tumors
ataxia telangiectasia ATM  11q22-q23 AR breast cancer
autoimmune lymphoproliferative syndrome FAS 10q24 AD lymphomas
FASL 1q23  
Bloom syndrome BLM  15q26.1 AR cancer of all types
Cowden syndrome PTEN  10q23 AD breast, thyroid
familial adenomatous polyposis APC  5q21 AD intestinal adenoma, colorectal cancer
familial melanoma p16INK4  9p21 AD melanoma, pancreatic cancer
familial Wilms tumor WT1  11p13 AD pediatric kidney cancer
hereditary breast/ovarian cancer BRCA1 17q21 AD breast, ovarian, colon, prostate
BRCA2 13q12.3  
hereditary diffuse gastric cancer CDH1  16q22 AD stomach cancers
hereditary multiple exostoses EXT1 8q24 AD exostoses, chondrosarcoma
EXT2 11p11-12  
hereditary prostate cancer HPC1  1q24-25 AD prostate carcinoma
hereditary retinoblastoma RB1  13q14.2 AD retinoblastoma, osteosarcoma
hereditary nonpolyposis colon cancer (HNPCC) MSH2 2p16 AD colon, endometrial, ovarian, stomach, small bowel, ureter carcinoma
MLH1 3p21.3  
MSH6 2p16  
PMS2 7p22  
hereditary papillary renal carcinoma MET  7q31 AD papillary renal tumor
juvenile polyposis SMAD4  18q21 AD gastrointestinal, pancreatic cancers
Li-Fraumeni TP53  17p13.1 AD sarcoma, breast cancer
multiple endocrine neoplasia type 1 MEN1  11q13 AD parathyroid, endocrine, pancreas, and pituitary
multiple endocrine neoplasia type 2a RET  10q11.2 AD medullary thyroid carcinoma, pheochromocytoma
neurofibromatosis type 1 NF1  17q11.2 AD neurofibroma, neurofibrosarcoma, brain tumor
neurofibromatosis type 2 NF2  22q12.2 AD vestibular schwannoma, meningioma, spine
nevoid basal cell carcinoma syndrome (Gorlin's syndrome) PTCH  9q22.3 AD basal cell carcinoma, medulloblastoma, jaw cysts
tuberous sclerosis TSC1 9q34 AD angiofibroma, renal angiomyolipoma
TSC2 16p13.3  
von Hippel–Lindau VHL  3p25-26 AD kidney, cerebellum, pheochromocytoma
癌遺伝子癌抑制遺伝子

癌の危険因子

生活習慣病#生活習慣病などのリスクファクターを改変
疾患 危険因子 防御因子
悪性腫瘍 胃癌 塩辛い食品、喫煙、くん製製品、ニトロソアミン土壌、腸上皮化生Helicobacter pyroli ビタミンC、野菜、果実
食道癌 喫煙飲酒、熱い飲食物 野菜、果実
結腸癌 高脂肪食、肉食、低い身体活動、腸内細菌叢の変化、遺伝(家族性大腸腺腫症)  
肝癌 HBVキャリア・HCVキャリア、アフラトキシン住血吸虫飲酒  
肺癌 喫煙(特に扁平上皮癌)、大気汚染、職業的暴露(石綿(扁平上皮癌悪性中皮腫)、クロム) 野菜、果実
膵癌 高脂肪食喫煙  
口腔癌 喫煙(口唇・舌-パイプ)、ビンロウ樹の実(口腔)、飲酒  
咽頭癌 EBウイルス(上咽頭癌)、飲酒  
喉頭癌 喫煙男性アルコール  
乳癌 高年初産、乳癌の家族歴、肥満、未婚で妊娠回数少ない、無授乳、脂肪の過剰摂取、低年齢初経、高年齢閉経 母乳授乳
子宮頚癌 初交年齢若い、早婚、多産、性交回数が多い(売春)、貧困、不潔]、HSV-2HPV流産、人工妊娠中絶回数が多い  
子宮体癌 肥満糖尿病ピルエストロゲン常用、未婚、妊娠回数少ない、乳癌後のタモキシフエン内服  
膀胱癌 喫煙鎮痛剤乱用、ビルハルツ住血吸虫サッカリン防腐剤  
皮膚癌 日光(紫外線)、ヒ素(Bowen病)  
白血病 放射線ベンゼン、地域集積性(ATL)、ダウン症(小児白血病)  
骨腫瘍 電離放射線  
甲状腺癌 ヨード欠乏または過剰  


Lynch syndrome」

  [★] 遺伝性非ポリポーシス大腸癌, hereditary nonpolyposis colon cancerリンチ症候群

HNPCC」

  [★] 遺伝性非ポリポーシス大腸癌 hereditary nonpolyposis colon cancer


colon」

  [★] 結腸

WordNet   license wordnet

「the basic unit of money in Costa Rica; equal to 100 centimos」
Costa Rican colon

WordNet   license wordnet

「the basic unit of money in El Salvador; equal to 100 centavos」
El Salvadoran colon

WordNet   license wordnet

「a punctuation mark (:) used after a word introducing a series or an example or an explanation (or after the salutation of a business letter)」

WordNet   license wordnet

「the part of the large intestine between the cecum and the rectum; it extracts moisture from food residues before they are excreted」

PrepTutorEJDIC   license prepejdic

「コロン(:)(句読点の一種で,文中においてセミコロン以上を分離を示すほか,対照,例証,引用文などを示すのに用いる)」

PrepTutorEJDIC   license prepejdic

「(大腸の)結腸[部]」


Cancer」

  [★]

WordNet   license wordnet

「type genus of the family Cancridae」
genus Cancer

WordNet   license wordnet

「the fourth sign of the zodiac; the sun is in this sign from about June 21 to July 22」
Cancer the Crab, Crab

WordNet   license wordnet

「(astrology) a person who is born while the sun is in Cancer」
Crab

WordNet   license wordnet

「a small zodiacal constellation in the northern hemisphere; between Leo and Gemini」


cancer」

  [★]

癌腫
tumor


WordNet   license wordnet

「any malignant growth or tumor caused by abnormal and uncontrolled cell division; it may spread to other parts of the body through the lymphatic system or the blood stream」
malignant neoplastic disease

PrepTutorEJDIC   license prepejdic

「〈U〉〈C〉『がん』 / 〈U〉〈C〉害悪 / 《Cancer》(星座の)カニ座」


hereditary」

  [★]

  • adj.
  • 遺伝性の、遺伝の
heredityheritableinheritinheritableinheritable characterinheritanceinherited

PrepTutorEJDIC   license prepejdic

「世襲の,親譲りの / 遺伝的な,遺伝性の」


col」

  [★]

WordNet   license wordnet

「a pass between mountain peaks」
gap

PrepTutorEJDIC   license prepejdic

「(山脈の)鞍部(あんぶ),山あい」



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