Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53.

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Ressource 1Download: serval:BIB_28AEEE440C11.P001 (265.59 [Ko])
State: Public
Version: author
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It was possible to publish this article open access thanks to a Swiss National Licence with the publisher.
Serval ID
serval:BIB_28AEEE440C11
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53.
Journal
Familial Cancer
Author(s)
Ferrarini A., Auteri-Kaczmarek A., Pica A., Boesch N., Heinimann K., Schäfer S.C., Vesnaver-Megalo S., Cina V., Beckmann J.S., Monnerat C.
ISSN
1573-7292 (Electronic)
ISSN-L
1389-9600
Publication state
Published
Issued date
2011
Volume
10
Number
2
Pages
187-192
Language
english
Abstract
We report a 26-year-old female patient who was diagnosed within 4 years with chest sarcoma, lung adenocarcinoma, and breast cancer. While her family history was unremarkable, DNA sequencing of TP53 revealed a germline de novo non-sense mutation in exon 6 p.Arg213X. One year later, she further developed a contralateral ductal carcinoma in situ, and 18 months later a jaw osteosarcoma. This case illustrates the therapeutic pitfalls in the care of a young cancer patient with TP53 de novo germline mutations and the complications related to her first-line therapy. Suggestion is made to use the less stringent Chompret criteria for germline TP53 mutation screening. Our observation underlines the possibly negative effect of radiotherapy in generating second tumors in patients with a TP53 mutation. We also present a review of six previously reported cases, comparing their cancer phenotypes with those generally produced by TP53 mutations.
Pubmed
Web of science
Open Access
Yes
Create date
14/06/2011 14:18
Last modification date
01/10/2019 7:17
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