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结直肠MUTYH-相关息肉病及其与结直肠癌的关系

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摘要 WHO(2010)消化系统肿瘤分类中的结直肠肿瘤部分增加了MUTYH-相关息肉病(MAP)的内容[1]。2002年AL-Tassan等[2]首次报告MUTYH基因突变与人类肠肿瘤有关,该研究发现,一个多发性结直肠腺瘤/腺癌家族7个兄弟中3个与家族性腺瘤性息肉病(FAP)的临床表现类似,但没有APC基因突变,不支持FAP;同时也没有检出肿瘤微卫星不稳定状态,不支持遗传性非息肉病性结直肠癌(HNPCC)。对MUTYH的分析发现,生殖细胞系双等位基因复合性杂合性突变导致其编码的165位和382位氨基酸改变,属常染色体隐性遗传病,因此将这类息肉命名为MUTYH-相关息肉病。该病变伴有结直肠不同组织学类型、不同数量的息肉,具有进展为恶性的倾向。国内对其研究报道很少[3,4],还没有典型病例报告。本文就其诊断标准、流行病学、临床特征、病理组织学及分子遗传学特征进行简述,旨在加强对该病的认识,以期提高临床病理诊断水平。
作者 王鲁平 徐升
机构地区 北京军区总医院病理科 安徽医科大学
出处 《诊断病理学杂志》 CSCD 2011年第6期404-406,共3页 Chinese Journal of Diagnostic Pathology
关键词 结直肠癌 MUTYH-相关息肉病 相关性
分类号 R735.35 [医药卫生—肿瘤]
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参考文献9

  • 1Bosman FT,Carneiro F,Hruban RH,et al.WHO classification of digestive system of internationl agency for research on cancer[M].Lyon:IARC Press,2010.156-159.
  • 2Al-Tassan N,Chmiel NH,Maynard J,et al.Inherited variants of MYH associated with somatic G:C--> T:A mutations in colorectal tumora[J].Nat Genet,2002,30(2):227-232.
  • 3周卉卉,吕炳建,来茂德.遗传性MUTYH基因突变与结直肠癌[J].浙江大学学报（医学版）,2007,36(4):406-411. 被引量：5
  • 4佟静,王炳元.MUTYH基因与结直肠癌发病的关系[J].世界华人消化杂志,2008,16(31):3576-3581. 被引量：3
  • 5Lefevre JH,Colas C,Coulet F,et al.Frequent mutation in North African patients with MUTYH-associated polyposis[J].Clin Genet,2010,12(10):1111.
  • 6Pitroski CE,Cossio SL,Koehler-Santos P,et al.Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil[J].Int J Colorectal Dis,2011,26(7):841-846.
  • 7Dunlop MG,Farrington SM.MUTYH-associated polyposis and colorectal cancer[J].Surg Oncol Clin N Am,2009,18 (4):599-610.
  • 8Pervaiz MA,Eppolito A,Schmidt K.Papillary thyroid cancer in a patient with MUTYH-associated polyposis (MAP)[J].Fam Cancer,2010,9(4):595-597.
  • 9vonder Thüsen JH,van de Wetering MD,Westermann AM,et al.Bronchioloalveolar adenocarcinoma and pulmonary langerhans cell histiocytosis in a patient with MUTYH-associated polyposis[J].J Clin Oncol,2011,29(8):e188-190.

二级参考文献54

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诊断病理学杂志
2011年 第6期

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