Molecular testing is a promising approach to differential diagnostics and especially to prognostication of uveal melanoma (UM). We have tested a complex biomarker panel that included pathology and a number of cytogenetic and molecular markers on a series of 58 UM samples as a part of a prospective clinical study. Testing of all biomarkers has proved feasible on both FFPE and FNA samples. Molecular verification of UM diagnosis via mutation analysis demonstrated very high sensitivity. Cytogenetic and molecular genetic classifications gave discordant results in most samples from our series; prognostic significance of this discrepancy is yet to be elucidated through final data analysis of this and other prospective studies.
We have conducted a pilot study of repeated tumor biopsy followed by molecular testing in order to facilitate treatment correction in patients with advanced non-small cell lung cancer progressing on their current therapy. Repeated tumor biopsy was showed to be feasible, well tolerated and highly informative. Use of molecular-matched therapy was associated with significant increase in overall survival in this difficult-to-treat group of cancer patients.
It is reported a unique clinical case of administration of crizotinib in a 14-year-old patient with ALK-positive metastatic cholangiocarcinoma and congenital viral hepatitis B. Driver oncogenic mutations potentially responsive to targeted therapy as well as possible ways to prolong crizotinib short-term effect are discussed.
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