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

Ferrarini, Alessandra; Auteri-Kaczmarek, Agnes; Pica, Alessia; Boesch, Nemya; Heinimann, Karl; Schäfer, Stephan C; Vesnaver-Megalo, Sara; Cina, Viviane; Beckmann, Jacques S; Monnerat, Christian (2011). 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. Familial Cancer, 10(2), pp. 187-92. Dordrecht: Springer 10.1007/s10689-010-9415-9

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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.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Radiation Oncology

UniBE Contributor:

Pica, Alessia

ISSN:

1389-9600

Publisher:

Springer

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:19

Last Modified:

17 Mar 2015 19:25

Publisher DOI:

10.1007/s10689-010-9415-9

PubMed ID:

21225465

Web of Science ID:

000290937500002

URI:

https://boris.unibe.ch/id/eprint/6263 (FactScience: 211173)

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