A case of myoepithelial carcinoma displaying biallelic inactivation of the tumour suppressor gene APC in a patient with familial adenomatous polyposis

Young, J., Barker, M., Robertson, T., Nasioulas, S., Tannenberg, A., Buttenshaw, R. L., Knight, N., Jass, J. R. and Leggett, B. A. (2002) A case of myoepithelial carcinoma displaying biallelic inactivation of the tumour suppressor gene APC in a patient with familial adenomatous polyposis. Journal of Clinical Pathology, 55 3: 230-232.


Author Young, J.
Barker, M.
Robertson, T.
Nasioulas, S.
Tannenberg, A.
Buttenshaw, R. L.
Knight, N.
Jass, J. R.
Leggett, B. A.
Title A case of myoepithelial carcinoma displaying biallelic inactivation of the tumour suppressor gene APC in a patient with familial adenomatous polyposis
Journal name Journal of Clinical Pathology   Check publisher's open access policy
Publication date 2002-03
Sub-type Article
Volume number 55
Issue number 3
ISSN 0021-9746
Start page 230
End page 232
Total pages 3
Place of publication England
Publisher British Medical Journal Publishing Group
Collection year 2002
Language eng
Subject C1
321011 Medical Genetics
321015 Oncology and Carcinogenesis
Abstract Familial adenomatous polyposis (FAP) is an autosomal dominant disorder caused by mutation of the APC gene. It is characterised by the appearance of hundreds to thousands of colorectal adenomas in adolescence and the subsequent development of colorectal cancer. Various extracolonic malignancies are associated with FAP, including desmoids and neoplasms of the stomach, duodenum, pancreas, liver, and brain. We present a family affected by FAP with an exon 14 APC mutation displaying two rare extracolonic lesions, a hepatoblastoma and a myoepithelial carcinoma. The hepatoblastoma was found in a male patient aged 2 years. The second lesion, a myoepithelial carcinoma of the right cheek, was found in a female patient aged 14 years. Inactivation of the normal APC allele was demonstrated in this lesion by loss of heterozygosity analysis, thus implicating APC in the initiation or progression of this neoplasm. This is the first reported case of this lesion in a family affected by FAP.
Keyword Pathology
Malignant Myoepithelioma
Salivary-glands
Hepatoblastoma
Q-Index Code C1

Document type: Journal Article
Sub-type: Article
Collections: Excellence in Research Australia (ERA) - Collection
School of Medicine Publications
 
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