Gorlin's syndrome

出典: meddic

nevoid basal cell carcinoma syndrome

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2014/06/18 16:17:34」(JST)

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英文文献

  • DICER1 syndrome can mimic different genetic tumor predispositions.
  • Mehraein Y1, Schmid I2, Eggert M1, Kohlhase J3, Steinlein OK4.
  • Cancer letters.Cancer Lett.2016 Jan 28;370(2):275-8. doi: 10.1016/j.canlet.2015.11.002. Epub 2015 Nov 11.
  • DICER1, a RNAse endonuclease involved in the processing of siRNA and microRNA, is known to play a pivotal role in the post-transcriptional regulation of gene expression. Germ line mutations in the DICER1 gene increase the risk for different types of tumors. At present, DICER1 syndrome is an establis
  • PMID 26577641
  • Dermoscopy for Identification of Basal Cell Carcinomas in Basal Cell Nevus Syndrome During Carbon Dioxide Laser Surgery.
  • Sorensen A1, Wolter S1, Patel N1, Hansen R1, Price H1.
  • Pediatric dermatology.Pediatr Dermatol.2016 Jan;33(1):109-11. doi: 10.1111/pde.12710. Epub 2015 Nov 17.
  • Basal cell nevus syndrome (BCNS) is a rare autosomal dominant condition best known for the development of early and multiple basal cell carcinomas (BCCs). Because the condition requires lifetime surveillance for new cancers, an efficient method of identification and treatment is desirable, especiall
  • PMID 26572667
  • Multiple Hereditary Infundibulocystic Basal Cell Carcinoma Syndrome Associated With a Germline SUFU Mutation.
  • Schulman JM1, Oh DH2, Sanborn JZ3, Pincus L1, McCalmont TH1, Cho RJ4.
  • JAMA dermatology.JAMA Dermatol.2015 Dec 16:1-5. doi: 10.1001/jamadermatol.2015.4233. [Epub ahead of print]
  • Importance: Multiple hereditary infundibulocystic basal cell carcinoma syndrome (MHIBCC) is a rare genodermatosis in which numerous indolent, well-differentiated basal cell carcinomas develop primarily on the face and genitals, without other features characteristic of basal cell nevus syndrome. The
  • PMID 26677003

和文文献

  • Nevoid Basal Cell Carcinoma Syndrome With Medullobla stoma and Meningioma : Case Report
  • , , , ,
  • Neurologia medico-chirurgica 44(12), 665-668, 2004-12-15
  • … A 35-year-old man presented with a rare case of nevoid basal cell carcinoma syndrome, or Gorlin's syndrome, associated with both medulloblastoma and meningioma, manifesting as visual field constriction due to multiple parasellar tumors. … Histological examination of biopsy specimens established the diagnosis of nevoid basal cell carcinoma syndrome. …
  • NAID 110002283531
  • Ovarian fibroma in a 7-month-old infant : a case report and review of the literature
  • CHEN Yi-Ju,HSIEH Chih-Sung,ENG Hock-Liew,HUANG Chao-Cheng
  • Pediatric surgery international 20(11), 894-897, 2004-12-01
  • NAID 10018934944
  • Basal cell carcinomas developing in a case of medulloblastoma associated with Gorlin's syndrome

関連リンク

Fitzpatrick PJ, Thompson GA. Gorlin's syndrome, or nevoid basal cell carcinoma syndrome. Can Med Assoc J. 1982 Sep 15; 127 (6):465–470. [PMC free article] [PubMed] Fitzpatrick PJ, Thompson GA. Gorlin's syndrome, or nevoid ...
REVIEW OF LITERATURE Gorlin’s syndrome is also referred to as basal cell nevus syndrome, Gorlin-Goltz syndrome and nevoid basal cell carcinoma syndrome. It is a genetic disease transmitted in an autosomal dominant fashion ...

関連画像

Gorlin syndrome = متلازمة Gorlin syndrome = متلازمة Gorlin syndrome (palmar pits).Gorlin syndrome: A case reportGorlin Syndrome Or Basal Cell Nevus Bcns A Basal cell naevus (Gorlin's) syndrome


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関連記事sing」「syndrome」「S」「ss

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  



sing」

  [★]

  • v.
過去sang-過去分詞sung

WordNet   license wordnet

「to make melodious sounds; "The nightingale was singing"」

PrepTutorEJDIC   license prepejdic

「『歌う』;(…に)歌って聞かせる《+『to』(『for』)+『名』》;(楽器に合わせて)歌う《+『to』+『名』》・〈小鳥・虫などが〉『鳴く』,さえずる / 《文》(…を)詩(歌)にする,(詩(歌)を詠んで)賛美する《+『of』+『名』》・〈小川・風・弾丸・湯沸かし・耳などが〉歌うように鳴る・《米語》自白する;密告する・〈歌〉‘を'歌う・《副詞[句]を伴って》歌って…‘を'(…に)する・…‘を'唱える,詠唱する・《文》…‘を'詩(歌)にする,(詩(歌)に詠んで)賛美する・合唱の集い」

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「deliver by singing; "Sing Christmas carols"」

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「produce tones with the voice; "She was singing while she was cooking"; "My brother sings very well"」


syndrome」

  [★]

  • n.

WordNet   license wordnet

「a pattern of symptoms indicative of some disease」

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「a complex of concurrent things; "every word has a syndrome of meanings"」

PrepTutorEJDIC   license prepejdic

「(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」


S」

  [★]

WordNet   license wordnet

「the 19th letter of the Roman alphabet」
s

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「sulfurの化学記号 / {略}South[ern]」


ss」

  [★]

single strandsingle-strandsingle-stranded





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