MOLECULAR GENETIC TECHNIQUES FOR PRECISION DIAGNOSIS

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My major research focus since joining the pathology department at MGH has been on applying molecular genetic techniques to the diagnosis and treatment of human neoplasia. One line of investigation has focused on diagnostics and clinico-pathologic evaluation of non-small cell lung cancer, including the description of morphologic correlates of EGFR, MET, and KRAS mutation and ALK and ROS1-rearranged tumors in a large cohort of patients. We have screened large numbers of patients for entry into clinical trials of targeted agents. We found that ALK- and ROS1-positive lung tumors show a remarkable response to the tyrosine kinase inhibitor crizotinib. We continue to work on analyzing other genetic subtypes with targeted therapies in development, including MET exon 14 skipping variants, and NTRK and RET fusions.