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.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.

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. 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.

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). A second intervention was performed with intraoperative radio-guided detection with a gamma probe and a handheld SPECT. An intraoperative radioguided technique allowed the detection of a lesion that was confirmed by histology to be a lymph node metastasis of the NET and a nodule of NET in the anastomosis of the first surgical intervention.

Detección radioguiada de lesión oculta no palpable (ROLL) en un caso de metástasis abdominal de tumor neuroendocrino / No disponible

Los tumores neuroendocrinos (TNE) son un grupo heterogéneo de neoplasias que tienen origen en tejidos derivados de la cresta neural, que expresan marcadores neuroendocrinos y receptores de somatostatina. Presentamos el caso de una paciente con un TNE de intestino delgado previamente intervenido. En la gammagrafía de receptores de somatostatina (GRS/99mTc-Tektrotyd) se identificó un foco en mesenterio no resecado. Se realizó una segunda intervención con detección radioguiada con sonda gamma y con SPECT-portátil. Permitió detectar una lesión que se confirmó por histología como metástasis ganglionar de TNE y un nódulo de TNE en la anastomosis de la primera intervención quirúrgica

No disponible

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. La histología demostró paniculitis linfocitaria septal y lobulillar. La paciente tuvo mala tolerancia al tratamiento anti diana a dosis plenas, requiriendo su ajuste, generando una corticodependencia para controlar sintomatología, y que finalmente obligó a la descontinuación de la terapia dirigida contra melanoma.  A la fecha, se han descrito 29 casos en la literatura de paniculitis asociada a vemurafenib, siendo la mayoría paniculitis neutrofílicas con adecuado control de sintomatología asociando antiinflamatorios no esteroidales y/o corticoides orales sin requerir en su mayoría modificación de la terapia contra melanoma; sin embargo hay que tener presente que pueden haber casos con mala evolución que obligan a la reducción de dosis de vemurafenib y descontinuar el tratamiento, como ha ocurrido en nuestro reporte.Vemurafenib has proven to be a useful tool in the treatment of metastatic melanoma with BRAF-V600E mutation. Adverse effects include arthralgia, fatigue, and skin toxicity; panniculitis is a rare complication. We present the case of a 43-year-old patient with metastatic melanoma who developed painful subcutaneous nodules of the lower and upper limbs and associated systemic clinical symptoms after 2 weeks of treatment with vemurafenib plus cobimetinib. Histology showed a septal and lobular lymphocytic panniculitis.The patient had poor tolerance of the full-dose treatment, requiring its adjustment. Systemic corticosteroids were required to control symptomatology, which finally forced the discontinuation of the medication.To date, 29 cases have been described in the literature of panniculitis associated with vemurafenib. Most of these have been neutrophilic panniculitis, but adequate control of symptoms is usually achieved with nonsteroidal anti-inflammatory drugs and/or oral corticosteroids without requiring modification of melanoma therapy. However, it must be borne in mind that there may be cases that force the reduction and discontinuation ofvemurafenib treatment. We believe that this histological variant of lymphocytic panniculitis and its poor response to decrease in vemurafenib makes this case unusual and instructive.