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.
CITATION STYLE
Serra, V., Vivancos, A., Puente, X. S., Felip, E., Silberschmidt, D., Caratù, G., … Baselga, J. (2013). Clinical response to a lapatinib-based therapy for a Li-Fraumeni Syndrome patient with a novel HER2V659E mutation. Cancer Discovery, 3(11), 1238–1244. https://doi.org/10.1158/2159-8290.CD-13-0132
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