American Association for Cancer Research
21598290cd130132-sup-supp_table.xlsx (39.95 kB)

Supplementary Table 1 from Clinical Response to a Lapatinib-Based Therapy for a Li-Fraumeni Syndrome Patient with a Novel HER2V659E Mutation

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posted on 2023-04-03, 20:22 authored by Violeta Serra, Ana Vivancos, Xose S. Puente, Enriqueta Felip, Daniel Silberschmidt, Ginevra Caratù, Josep-Lluís Parra, Leticia De Mattos-Arruda, Judit Grueso, Javier Hernández-Losa, Joaquín Arribas, Ludmila Prudkin, Paolo Nuciforo, Maurizio Scaltriti, Joan Seoane, José Baselga

Supplementary Table 1 - XLSX 39K, Exome sequencing results. The table contains the raw data for Figure 2B as well as the mutation allele frequency, the prediction of protein functionality, the inclusion in the Cancer Gene Census and the protein function. Sample legend: B, DCIS right; C, DCIS left; D, NSCLC left; E, NSCLC right; F, N2(4R)



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. Cancer Discov; 3(11); 1238–44. ©2013 AACR.This article is highlighted in the In This Issue feature, p. 1207