Clinical Response to a Lapatinib-Based Therapy for a Li-Fraumeni Syndrome Patient with a Novel HER2
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چکیده
www.aacrjournals.org 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 (LiFraumeni Syndrome) identifi ed oncogenic alterations in the HER2 and EGFR genes across all tumors, including HER2 amplifi cations, an EGFR -exon 20 insertion, and the fi rst-in-humans HER2 V659E mutation showing a phenotypic convergent evolution toward HER2 and EGFR alterations. Following the identifi cation 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. HER2 V659E sensitivity to lapatinib was confi rmed in the laboratory.
منابع مشابه
Clinical response to a lapatinib-based therapy for a Li-Fraumeni syndrome patient with a novel HER2V659E mutation.
UNLABELLED 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 converge...
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تاریخ انتشار 2013