+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Cranial desmoid tumor associated with homozygous inactivation of the adenomatous polyposis coli gene in a 2-year-old girl with familial adenomatous polyposis



Cranial desmoid tumor associated with homozygous inactivation of the adenomatous polyposis coli gene in a 2-year-old girl with familial adenomatous polyposis



Cancer 77(5): 972-976



BACKGROUND: Familial adenomatous polyposis (FAP) is a dominantly inherited disorder characterized by the presence of more than 100 adenomatous polyps in the colon and rectum starting in the second decade of life. FAP is associated with extra colonic manifestations, including desmoid tumors. METHODS: A 2-year-old girl presented with a rapidly enlarging tumor of the forehead and a family history of FAP. The tumor was cultured for cytogenetic studies. A DNA linkage study using flanking and intragenic polymorphisms of the adenomatous polyposis coli (APC) gene was performed to identify allele loss in the tumor. Germline mutation identification was by single strand conformation polymorphism analysis of exon 15 of the APC gene, with subsequent double stranded sequencing of fragments with conformational changes. A mutation-induced loss of a restriction site was used to confirm allele loss in the tumor. RESULTS: Microscopically, the tumor had desmoid features. Cytogenetic analysis of the tumor demonstrated loss of chromosome region 5(q21q22). A truncating adenomatous polyposis coli (APC) gene mutation was identified in the leukocyte DNA from the child and her affected father. Linked DNA markers suggested that the tumor had lost the maternal, wild-type allele. A mutation-induced restriction endonuclease site alteration demonstrated hemizygosity of the mutant sequence in the tumor DNA. CONCLUSIONS. These findings are compatible with the presence of a "second hit" inactivation of the APC gene and implicate this gene in the pathogenesis of desmoid tumors.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 008397335

Download citation: RISBibTeXText

PMID: 8608492

DOI: 10.1002/(sici)1097-0142(19960301)77:5<972::aid-cncr25>3.0.co;2-#


Related references

A novel frameshift mutation in exon 12 of the adenomatous polyposis coli gene in an Italian family with familial adenomatous polyposis and desmoid tumour. Journal of Molecular and Genetic Medicine 4: 235-238, 2010

Ovarian steroid cell tumor with biallelic adenomatous polyposis coli inactivation in a patient with familial adenomatous polyposis. Genes Chromosomes and Cancer 51(3): 283-289, 2012

Thyroid Carcinoma Usually Occurs in Patients with Familial Adenomatous Polyposis in the Absence of Biallelic Inactivation of the Adenomatous Polyposis Coli Gene. Journal of Clinical Endocrinology and Metabolism 86(1): 427-432, 2001

Thyroid carcinoma usually occurs in patients with familial adenomatous polyposis in the absence of biallelic inactivation of the adenomatous polyposis coli gene. Journal of Clinical Endocrinology and Metabolism 86(1): 427-432, 2001

Desmoid tumours in patients with familial adenomatous polyposis and desmoid region adenomatous polyposis coli mutations. British Journal of Surgery 94(8): 1009-1013, 2007

Germ line mutations of adenomatous of adenomatous polyposis coli apc gene in a series of french propositi for familial adenomatous polyposis. Gastroenterology 102(4 Part 2): A384, 1992

Synonymous mutation adenomatous polyposis coliΔ486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutation‑negative familial adenomatous polyposis. Molecular Medicine Reports 18(6): 4931-4939, 2018

A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis. Oncotarget 7(31): 50392-50400, 2016

The relationships between phenotypic expression in patients with familial adenomatous polyposis (FAP) and the site of mutations in the adenomatous polyposis coli (APC) gene. Annals of Surgery 229(3): 445-446, 1999

Fundic gland polyps in familial adenomatous polyposis: neoplasms with frequent somatic adenomatous polyposis coli gene alterations. American Journal of Pathology 157(3): 747-754, 2000

Analysis of adenomatous polyposis coli gene mutations in familial adenomatous polyposis patients at increased risk for periampullary neoplasia. Proceedings of the American Association for Cancer Research Annual Meeting 34: 517, 1993

Somatic mutations of the adenomatous polyposis coli gene in gastroduodenal tumors from patients with familial adenomatous polyposis. Cancer Research 55(14): 3165-3170, 1995

Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene. Scandinavian Journal of Gastroenterology 31(9): 917-920, 1996

An AT-rich region in the adenomatous polyposis coli APC gene may cause misinterpretation of Familial Adenomatous Polyposis molecular screening. 2012

Screening for mutations of the adenomatous polyposis coli gene in 67 Italian familial adenomatous polyposis Further evidence of complex genotype-phenotype correlations. Gastroenterology 114(4 Part 2): A566, 1998