A Large Deletion of Chromosome 5q22.1-22.2 Associated with Sparse Type of Familial Adenomatous Polyposis: Report of a Case

被引：7

作者：

Yamaguchi, Tatsuro ^{[1
,2
]}

Koizumi, Koichi ^{[3
]}

Arai, Masami ^{[4
]}

Tamura, Kazuo ^{[5
]}

Iijima, Takeru ^{[1
]}

Horiguchi, Shin-Ichiro ^{[6
]}

Miyaki, Michiko ^{[1
]}

机构：

[1] Komagome Hosp, Tokyo Metropolitan Canc & Infect Dis Ctr, Hereditary Tumor Res Project, Tokyo, Japan

[2] Komagome Hosp, Tokyo Metropolitan Canc & Infect Dis Ctr, Dept Surg, Tokyo, Japan

[3] Komagome Hosp, Tokyo Metropolitan Canc & Infect Dis Ctr, Dept Gastroenterol, Tokyo, Japan

[4] Canc Inst Hosp, Japanese Fdn Canc Res, Tokyo, Japan

[5] Kinki Univ, Grad Sch Sci & Engn Res, Higashiosaka, Osaka 577, Japan

[6] Komagome Hosp, Tokyo Metropolitan Canc & Infect Dis Ctr, Dept Pathol, Tokyo, Japan

来源：

JAPANESE JOURNAL OF CLINICAL ONCOLOGY | 2014年 / 44卷 / 12期

关键词：

familial adenomatous polyposis; APC gene; chromosome; 5q22; large genomic deletion; TUMOR-SUPPRESSOR PROTEIN; APC GENE; SUBMICROSCOPIC DELETIONS; COLORECTAL-CANCER; SOMATIC MUTATIONS; FAP PATIENTS; COLI GENE; IDENTIFICATION; LOCUS; PHENOTYPE;

D O I：

10.1093/jjco/hyu150

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

The proband was a 32-year-old man with sparse type of familial adenomatous polyposis with fundic gland and duodenal polyps and congenital hypertrophy of the retinal pigment epithelium without osteoma, dental abnormalities and desmoid tumors. Direct DNA sequencing did not detect germline mutations in any APC exon. However, using the multiplex ligation-dependent probe amplification method, we detected germline deletions of all APC exons. Using dual-color fluorescence in situ hybridization, we identified germline deletion of locus 5q22.1-22.2 that includes APC. Analysis of colorectal tumors identified somatic APC mutations in the cluster region in all polyps, but no loss of heterozygosity was detected in any polyp.

引用

页码：1243 / 1247

页数：5

共 35 条

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