The increasing identification of driver oncogenic alterations and progress of targeted therapies addresses the need of comprehensive alternatives to standard molecular methods. The translation into clinical practice of next-generation sequencing (NGS) panels is actually challenged by the compliance of high quality standards for clinical accreditation. Herein, we present the analytical and clinical feasibility study of a hybridization capture-based NGS panel (Action OncoKitDx) for the analysis of somatic mutations, copy number variants (CNVs), fusions, pharmacogenetic SNPs and Microsatellite Instability (MSI) determination in formalin-fixed paraffin-embedded (FFPE) tumor samples. A total of 64 samples were submitted to extensive analytical validation for the identification of previously known variants. An additional set of 166 tumor and patient-matched normal samples were sequenced to assess the clinical utility of the assay across different tumor types. The panel demonstrated good specificity, sensitivity, reproducibility, and repeatability for the identification of all biomarkers analyzed and the 5% limit of detection set was validated. Among the clinical cohorts, the assay revealed pathogenic genomic alterations in 97% of patient cases, and in 82.7%, at least one clinically relevant variant was detected. The validation of accuracy and robustness of this assay supports the Action OncoKitDx’s utility in adult solid tumors.

Purpose: To describe a case of cocaine-induced midline destructive lesions (CIMDL) associated with ocular autoimmune disease. Methods: Observational case report. Results: A 45-year-old man with history of chronic osteolytic sinusitis due to cocaine abuse presented with sudden vision loss in right eye. Ophthalmic examination revealed fixed right mydriasis with extraocular movements limitation and optic disc swelling. Computed tomography showed an orbital infiltrating mass. The diagnosis of orbital-apex syndrome secondary to CIMDL was established. Steroids and antibiotics therapy were started without vision improvement. At 6-months follow-up, a corneal ulcer with characteristics of peripheral ulcerative keratitis (PUK) was evidenced, coinciding with an upper respiratory bacterial infection. Conclusions: CIMDL and PUK share common pathogenic pathways, with implication of autoimmune factors and exposure to infective antigens. We hypothesized that chronic cocaine use, along with persistent bacterial infection, could have triggered an inflammatory reaction, which contributed to CIMDL development and the appearance of PUK.

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