Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid Tumors.

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.

Severe Cocaine-Induced Midline Destructive Lesions (CIMDL) Leading to Orbital Apex Syndrome and Peripheral Ulcerative Keratitis.

Purpose: To describe a case of cocaine-induced midline destructive lesions (CIMDL) associated with ocular autoimmune disease.: 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.

Radioguided detection of a non-palpable occult lesion (ROLL) in a case of abdominal metastasis of a neuroendocrine tumor.

Neuroendocrine tumors (NET) are a heterogeneous group of neoplasms that originate in tissues derived from the neural crest, whose characteristic feature is the expression of neuroendocrine markers and somatostatin receptors. Here, we present the case of a patient with a surgically intervened small bowel NET. Focal uptake was identified in the unresected mesentery in the scintigraphy of somatostatin receptors (99mTc-Tektrotyd).

Lesiones subcutáneas dolorosas en paciente con melanoma metastásico: un caso de paniculitis linfocítica asociado a vemurafenib.

Vemurafenib ha probado ser una herramienta útil en el tratamiento de melanoma metastásico con mutación BRAF-V600E. Los efectos adversos incluyen artralgias, fatiga y toxicidad cutánea, siendo infrecuente la paniculitis. Presentamos el caso de una paciente de 43 años con melanoma metastásico que desarrolla lesiones subcutáneas dolorosas en miembros inferiores y superiores, asociadas a clínica sistémica después de 2 semanas de inicio de tratamiento con Vemurafenib + Cobimetinib.