RESUMO
MET is a receptor tyrosine kinase (RTK) that plays important roles in carcinogenesis. Despite being frequently overexpressed in cancer, clinical responses to targeting this receptor have been limited. Recently novel splicing mutations involving the loss of exon 14 (called METex14 skipping) have emerged as potential biomarkers to predict for responsiveness to targeted therapies with Met inhibitors in non-small cell lung cancer (NSCLC). Currently, the diverse genomic alterations responsible for METex14 skipping pose a challenge for routine clinical diagnostic testing. In this report, we examine three different methodologies to detect METex14 and assess their potential utility for use as a diagnostic assay for both the identification of METex14 and intra-tumoural distribution in NSCLC.
RESUMO
A 51-year-old previously fit and healthy gentleman sustained a circular saw injury to his right thumb with partial amputation and an open multifragmentary fracture of his distal phalanx. He underwent open reduction and internal fixation under the hand surgery team. He developed a postoperative infection discharging pus 2â weeks postoperatively, which later grew Candida parapsilosis. He underwent radical debridement and removal of a K-wire, then a further second debridement 2â days later. Ceftriaxone was started empirically while awaiting cultures. Tissue and bone biopsy samples obtained in theatre all grew C. parapsilosis and he was started on caspofungin for 1â week, and switched on to oral fluconazole to complete a 6-week course. He has progressed well and has regained function in his thumb after 3â months, without any sign of ongoing infection.