与家族性腺瘤性息肉病相关的甲状腺癌中APC基因的体细胞突变。
Somatic mutation of the APC gene in thyroid carcinoma associated with familial adenomatous polyposis.
作者信息
Iwama T, Konishi M, Iijima T, Yoshinaga K, Tominaga T, Koike M, Miyaki M
机构信息
Department of Surgery, Kyoundo Hospital, Sasaki Institute, Tokyo.
出版信息
Jpn J Cancer Res. 1999 Apr;90(4):372-6. doi: 10.1111/j.1349-7006.1999.tb00757.x.
Abstract
We report the existence of both germline and somatic mutations of the APC gene in thyroid carcinomas from familial adenomatous polyposis (FAP) patients. One papillary thyroid carcinoma from a 210-year-old woman, with germline mutation of the APC gene (TCA to TGA at codon 1110), showed a somatic mutation of AAAAC deletion between codons 1060 and 1063. Another somatic mutation of CAG to TAG at codon 886 was also found in one of multiple thyroid carcinomas from a 26-year-old woman with attenuated FAP and germline mutation at codon 175 (C deletion). This is the first evidence that total absence of the normal function of the APC gene is involved in development of thyroid carcinomas in FAP.
摘要
我们报告了家族性腺瘤性息肉病（FAP）患者甲状腺癌中存在APC基因的种系突变和体细胞突变。一名21岁女性的甲状腺乳头状癌，其APC基因存在种系突变（密码子1110处TCA突变为TGA），在密码子1060和1063之间显示出AAAAC缺失的体细胞突变。在一名26岁患有轻度FAP且密码子175处存在种系突变（C缺失）的女性的多个甲状腺癌中的一个中，还发现了密码子886处CAG突变为TAG的另一个体细胞突变。这是首次有证据表明APC基因正常功能的完全缺失与FAP患者甲状腺癌的发生有关。
相似文献
1
Somatic mutation of the APC gene in thyroid carcinoma associated with familial adenomatous polyposis.与家族性腺瘤性息肉病相关的甲状腺癌中APC基因的体细胞突变。
Jpn J Cancer Res. 1999 Apr;90(4):372-6. doi: 10.1111/j.1349-7006.1999.tb00757.x.
2
Thyroid Carcinomas That Occur in Familial Adenomatous Polyposis Patients Recurrently Harbor Somatic Variants in , , and .家族性腺瘤性息肉病患者中发生的甲状腺癌常存在 、 、 和 种系变异。
Thyroid. 2020 Mar;30(3):380-388. doi: 10.1089/thy.2019.0561.
3
Thyroid carcinoma usually occurs in patients with familial adenomatous polyposis in the absence of biallelic inactivation of the adenomatous polyposis coli gene.甲状腺癌通常发生在家族性腺瘤性息肉病患者中，且不存在腺瘤性息肉病大肠杆菌基因的双等位基因失活情况。
J Clin Endocrinol Metab. 2001 Jan;86(1):427-32. doi: 10.1210/jcem.86.1.7095.
4
Gene variants associated to malignant thyroid disease in familial adenomatous polyposis: a novel APC germline mutation.与家族性腺瘤性息肉病恶性甲状腺疾病相关的基因变异：一种新的 APC 种系突变。
J Endocrinol Invest. 2010 Oct;33(9):603-6. doi: 10.1007/BF03346656. Epub 2010 Oct 8.
5
Mutation cluster region, association between germline and somatic mutations and genotype-phenotype correlation in upper gastrointestinal familial adenomatous polyposis.上消化道家族性腺瘤性息肉病的突变簇区域、胚系突变与体细胞突变之间的关联以及基因型-表型相关性
Am J Pathol. 2002 Jun;160(6):2055-61. doi: 10.1016/S0002-9440(10)61155-8.
6
Genetic alterations in thyroid carcinoma associated with familial adenomatous polyposis: clinical implications and suggestions for early detection.与家族性腺瘤性息肉病相关的甲状腺癌中的基因改变：临床意义及早期检测建议。
World J Surg. 1998 Dec;22(12):1231-6. doi: 10.1007/s002689900550.
7
Mutational analysis of the APC gene in cribriform-morula variant of papillary thyroid carcinoma.甲状腺乳头状癌筛状桑葚体变异型中APC基因的突变分析
World J Surg. 2006 May;30(5):775-9. doi: 10.1007/s00268-005-0368-3.
8
9
Germline mutations of the APC gene in patients with familial adenomatous polyposis-associated thyroid carcinoma: results from a European cooperative study.家族性腺瘤性息肉病相关甲状腺癌患者中APC基因的种系突变：一项欧洲合作研究的结果
J Clin Endocrinol Metab. 2000 Jan;85(1):286-92. doi: 10.1210/jcem.85.1.6254.
10
Mutation spectrum of the APC gene in 83 Korean FAP families.83个韩国家族性腺瘤性息肉病患者APC基因的突变谱
Hum Mutat. 2005 Sep;26(3):281. doi: 10.1002/humu.9360.
引用本文的文献
1
De novo familial adenomatous polyposis associated thyroid cancer with a c.2929delG frameshift deletion mutation in APC: a case report and literature review.家族性腺瘤性息肉病相关甲状腺癌伴 APC 基因 c.2929delG 移码突变：一例报告及文献复习。
World J Surg Oncol. 2023 Mar 2;21(1):73. doi: 10.1186/s12957-023-02951-9.
2
Advances and Insights of APC-Asef Inhibitors for Metastatic Colorectal Cancer Therapy.用于转移性结直肠癌治疗的APC-Asef抑制剂的进展与见解
Front Mol Biosci. 2021 Apr 22;8:662579. doi: 10.3389/fmolb.2021.662579. eCollection 2021.
3
Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer.遗传突变和变异与家族性非髓样甲状腺癌易感性的关系。
Genes (Basel). 2020 Nov 18;11(11):1364. doi: 10.3390/genes11111364.
4
Thyroid Carcinomas That Occur in Familial Adenomatous Polyposis Patients Recurrently Harbor Somatic Variants in , , and .家族性腺瘤性息肉病患者中发生的甲状腺癌常存在 、 、 和 种系变异。
Thyroid. 2020 Mar;30(3):380-388. doi: 10.1089/thy.2019.0561.
5
Influencers on Thyroid Cancer Onset: Molecular Genetic Basis.甲状腺癌发病的影响因素：分子遗传学基础。
Genes (Basel). 2019 Nov 8;10(11):913. doi: 10.3390/genes10110913.
6
A new family with a homozygous nonsense variant in further delineated the clinical phenotype of -associated polyposis.一个在[具体基因]中存在纯合无义变异的新家族进一步明确了[疾病名称]相关息肉病的临床表型。
Hum Genome Var. 2019 Oct 10;6:46. doi: 10.1038/s41439-019-0077-3. eCollection 2019.
7
A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature.一个早发型筛状-滤泡状变异型甲状腺乳头状癌中存在两个体细胞 APC 突变的独特病例，并对文献进行了综述。
Fam Cancer. 2020 Jan;19(1):15-21. doi: 10.1007/s10689-019-00146-4.
8
Familial adenomatous polyposis-rendering a diagnosis based on recognition of an unusual primary thyroid neoplasm.家族性腺瘤性息肉病——基于对一种不寻常的原发性甲状腺肿瘤的认识做出诊断。
Case Rep Med. 2011;2011:767610. doi: 10.1155/2011/767610. Epub 2011 Mar 2.
9
Familial nonmedullary thyroid neoplasia.家族性非髓样甲状腺肿瘤
Endocr Pathol. 2001 Summer;12(2):97-112. doi: 10.1385/ep:12:2:097.
10
Molecular evidence for multicentric development of thyroid carcinomas in patients with familial adenomatous polyposis.家族性腺瘤性息肉病患者甲状腺癌多中心发生的分子证据。
Am J Pathol. 2000 Dec;157(6):1825-7. doi: 10.1016/S0002-9440(10)64821-3.
本文引用的文献
1
Genetic alterations in thyroid carcinoma associated with familial adenomatous polyposis: clinical implications and suggestions for early detection.与家族性腺瘤性息肉病相关的甲状腺癌中的基因改变：临床意义及早期检测建议。
World J Surg. 1998 Dec;22(12):1231-6. doi: 10.1007/s002689900550.
2
Somatic instability of the APC I1307K allele in colorectal neoplasia.结直肠肿瘤中APC I1307K等位基因的体细胞不稳定性。
Cancer Res. 1998 Sep 15;58(18):4040-3.
3
Transcript dosage effect in familial adenomatous polyposis: model offered by two kindreds with exon 9 APC gene mutations.家族性腺瘤性息肉病中的转录本剂量效应：由两个携带第9外显子APC基因突变的家族提供的模型
Hum Mutat. 1998;11(3):197-201. doi: 10.1002/(SICI)1098-1004(1998)11:3<197::AID-HUMU3>3.0.CO;2-F.
4
Adrenocortical tumor in a patient with familial adenomatous polyposis: a case associated with a complete inactivating mutation of the APC gene and unusual histological features.家族性腺瘤性息肉病患者的肾上腺皮质肿瘤：1例与APC基因完全失活突变及不寻常组织学特征相关的病例
Hum Pathol. 1998 Mar;29(3):302-6. doi: 10.1016/s0046-8177(98)90052-1.
5
Thyroid papillary carcinoma of columnar cell type: a clinicopathologic study of 16 cases.柱状细胞型甲状腺乳头状癌：16例临床病理研究
Cancer. 1998 Feb 15;82(4):740-53.
6
Thyroid carcinoma associated with familial adenomatous polyposis.甲状腺癌与家族性腺瘤性息肉病相关。
Histopathology. 1997 Sep;31(3):231-6. doi: 10.1046/j.1365-2559.1997.2390858.x.
7
Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds.家族性腺瘤性息肉病家系中APC基因的新型种系突变及其表型谱。
Hum Genet. 1997 Oct;100(5-6):601-5. doi: 10.1007/s004390050560.
8
Phenotypic expression of disease in families that have mutations in the 5' region of the adenomatous polyposis coli gene.在腺瘤性息肉病 coli 基因 5' 区域存在突变的家族中疾病的表型表达。
Ann Intern Med. 1997 Apr 1;126(7):514-9. doi: 10.7326/0003-4819-126-7-199704010-00003.
9
Suppression of intestinal polyposis in Apc delta716 knockout mice by inhibition of cyclooxygenase 2 (COX-2).通过抑制环氧化酶2（COX-2）抑制Apc delta716基因敲除小鼠的肠道息肉形成。
Cell. 1996 Nov 29;87(5):803-9. doi: 10.1016/s0092-8674(00)81988-1.
10
Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli.APC外显子15 3'端的种系突变不会导致截短蛋白的产生，且与弱化的腺瘤性息肉病相关。
Hum Genet. 1996 Dec;98(6):727-34. doi: 10.1007/s004390050293.
Zotero 插件