Clinical response to a lapatinib-based therapy for a Li-Fraumeni Syndrome patient with a novel HER2V659E mutation Journal Article
| Authors: | Serra, V.; Vivancos, A.; Puente, X. S.; Felip, E.; Silberschmidt, D.; Caratù, G.; Parra, J. L.; De Mattos-Arruda, L.; Grueso, J.; Hernández-Losa, J.; Arribas, J.; Prudkin, L.; Nuciforo, P.; Scaltriti, M.; Seoane, J.; Baselga, J. |
| Article Title: | Clinical response to a lapatinib-based therapy for a Li-Fraumeni Syndrome patient with a novel HER2V659E mutation |
| Abstract: | Genomic characterization of recurrent breast and lung tumors developed over the course of 10 years in a 29-year-old patient with a germline TP53 mutation (Li- Fraumeni Syndrome) identified oncogenic alterations in the HER2 and EGFR genes across all tumors, including HER2 amplifications, an EGFR -exon 20 insertion, and the first-in-humans HER2V659E mutation showing a phenotypic convergent evolution toward HER2 and EGFR alterations. Following the identification of HER2-activating events in the most recent lung carcinoma and in circulating tumor cells, we treated the reminiscent metastatic lesions with a lapatinib-based therapy. A symptomatic and radiologic clinical response was achieved. HER2V659E sensitivity to lapatinib was confirmed in the laboratory. SIGNIFICANCE: The precise knowledge of the genomic alterations present in tumors is critical to selecting the optimal treatment for each patient. Here, we report the molecular characterization and clinical response to a lapatinib-based therapy for the tumors of a Li-Fraumeni patient showing prevalence of HER2 and EGFR genomic alterations. © 2013 American Association for Cancer Research. |
| Journal Title: | Cancer Discovery |
| Volume: | 3 |
| Issue: | 11 |
| ISSN: | 2159-8274 |
| Publisher: | American Association for Cancer Research |
| Date Published: | 2013-11-01 |
| Start Page: | 1238 |
| End Page: | 1244 |
| Language: | English |
| DOI: | 10.1158/2159-8290.cd-13-0132 |
| PROVIDER: | scopus |
| PUBMED: | 23950206 |
| DOI/URL: | |
| Notes: | --- - "Export Date: 2 December 2013" - "Source: Scopus" |
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