Analysis of germline and tumor mutations of p53 gene in familial occurrence of soft tissue sarcomas.

Abstract:

BACKGROUND:Familial soft tissue sarcomas are extremely rare. There is little information available on the clinical features and molecular findings of the hereditary occurrence of mesenchymal tumor. PATIENTS AND METHODS:A woman and her younger brother had malignant fibrous histiocytoma (pleomorphic type) and liposarcoma (pleomorphic type) in the lower limbs, respectively. Analysis of p53 mutations in exons 5-9 of the tumor and in germ-line was done. RESULTS:A guanine to adenine substitution occurred in CGC, codon 175 of exon 5 in p53 gene, to CAC in the tumor sample of Case 1. Likewise, a thymine to cytosine substitution occurred in TTT, codon 270 of exon 8 in p53 gene, to TCT in tumor sample of Case 2. Germline mutations were not seen in the either patients. CONCLUSIONS:Different missense mutations of p53 were detected in each tumor, however no germline mutations of p53 were found. The alteration of codon 175 in Case 1 is relatively common mutation. On the contrary, the mutation in codon 270 in Case 2 was extremely rare in cancers. Further molecular investigation is needed to understand the mechanism in familial occurrence of sarcomas.

journal_name

J Surg Oncol

authors

Kudawara I,Matsumine A,Ohzono K

doi

10.1002/jso.20720

subject

Has Abstract

pub_date

2007-03-15 00:00:00

pages

347-50

issue

4

eissn

0022-4790

issn

1096-9098

journal_volume

95

pub_type

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