Molecular Cytopathology Diagnosis Of A Lung Neoplasm: Case Report Of An Unusual Non-Small Cell Carcinoma With Met Exon 14 Skipping Mutation

DIAGNOSTIC CYTOPATHOLOGY(2021)

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摘要
Here we report the combined cytological and molecular diagnosis of a lung mass. The cytology and extensive immunohistochemistry on an endobronchial ultrasound-guided fine needle aspiration biopsy were inconclusive. By genomic profiling of the cell block material, we identified a MET exon 14 skipping mutation that indicated a lung origin and made the patient eligible for the tyrosine kinase inhibitor, crizotinib. This case is a prime example of complementing adequate aspiration and cell block processing techniques with molecular testing. Such an approach would augment the usability of fine needle aspiration biopsy, both as a diagnostic modality and as the first line to find therapeutic targets in the era of precision medicine.
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关键词
fine-needle aspiration biopsy, MET exon 14 skipping, molecular cytopathology, molecular diagnostics, non-small-cell lung carcinoma
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