RESUMEN
The accurate diagnosis of Xp11-translocation renal cell carcinoma (RCC) in adults is challenging. TFE3 (located on chromosome X) fuses with a partner gene generally located on another chromosome. In rare cases TFE3 may fuse with a neighboring gene: RBM10. Because TFE3 false-positive immunostaining is a common pitfall in many laboratories, demonstration of the chromosomal rearrangement is required in order to ascertain the diagnosis. Fluorescence in situ hybridization (FISH)-that has been considered as the gold standard method-reaches its limits for detecting small Xp11 paracentric inversions. We performed a comprehensive clinical, histological and genomic study of six novel cases of RCC with RBM10-TFE3 fusion. Using FISH, TFE3 rearrangement was equivocal in one case and negative in others. RBM10-TFE3 fusion was discovered using targeted RNA sequencing (RNASeq). As all the previously reported cases (mean age: 50), the six patients were adults (mean age: 42), suggesting an epidemiologic difference between RBM10-TFE3 RCC and tumors harboring some other partner genes, such as ASPSCR1 that rather occur in children. Array-comparative genomic hybridization showed several alterations, notably a gain of 17q in four cases with papillary features and loss of 3p in one case with clear cells. Our study demonstrates that, though rare among adult cases of RCC, RBM10-TFE3 fusion is not exceptional and warrants appropriate molecular detection. Notably, it would be worthy to systemically investigate by RNASeq challenging RCC with type-2 papillary features and 17q gain.
Asunto(s)
Factores de Transcripción Básicos con Cremalleras de Leucinas y Motivos Hélice-Asa-Hélice/genética , Carcinoma de Células Renales/genética , Neoplasias Renales/genética , Proteínas de Fusión Oncogénica/genética , Proteínas de Unión al ARN/genética , Adulto , Carcinoma de Células Renales/metabolismo , Carcinoma de Células Renales/patología , Femenino , Humanos , Hibridación Fluorescente in Situ , Neoplasias Renales/metabolismo , Neoplasias Renales/patología , MasculinoAsunto(s)
Liposarcoma/genética , Liposarcoma/patología , Proteínas Nucleares/genética , Proteínas Proto-Oncogénicas/genética , Neoplasias de los Tejidos Blandos/genética , Neoplasias de los Tejidos Blandos/patología , Anciano , Proteínas de Ciclo Celular , Amplificación de Genes , Humanos , Masculino , Recurrencia Local de Neoplasia/genética , Recurrencia Local de Neoplasia/patología , Proteínas Proto-Oncogénicas c-mdm2/genética , Hombro/patologíaRESUMEN
Detecting potentially malignant changes in a pure ground-glass nodule (GGN) is challenging. The development of a solid component is a known sign, which may help in differentiating benign from malignant GGN. We report the case of a 58-year-old man presenting with a pure GGN in the posterior segment of the right lower lobe. Follow-up computed tomographic scan after 1 year showed marked increase in attenuation (from -319 HU to +27 HU), whereas the average size of the nodule decreased (from 7 to 4.7 mm). On a computed tomographic scan in the prone position the nodule seemed larger (7.8 mm) and appeared as a pure GGN (-406 HU). Such changes were attributed to the reduction of lung volume and gravity.
Asunto(s)
Adenocarcinoma Bronquioloalveolar/diagnóstico por imagen , Nódulo Pulmonar Solitario/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Adenocarcinoma Bronquioloalveolar/patología , Adenocarcinoma Bronquioloalveolar/cirugía , Diagnóstico Diferencial , Gravitación , Humanos , Mediciones del Volumen Pulmonar , Masculino , Persona de Mediana Edad , Nódulo Pulmonar Solitario/patología , Nódulo Pulmonar Solitario/cirugía , Posición SupinaRESUMEN
Pulmonary signs are common in Wegener's granulomatosis (WG). However, an initial presentation including pleural effusion has not been described. We describe a case of WG in which pleural effusion was the first clinical manifestation. A 45-year-old man with dorsal pain presented with pleural thickening and effusion, and a visible nodule on a thoracic scan. A dense chronic inflammatory infiltrate was obtained by pleural biopsy and an open lung biopsy revealed necrotizing granulomatous vasculitis. Serologies were positive for antineutrophil cytoplasmic antibodies and antiproteinase 3 antibodies. A diagnosis of WG was conducted and the patient was started on cyclophosphamide and methylprednisolone as an initial treatment, with a favorable evolution. Although pleural effusion is rarely described in WG, this pathology must be considered in the presence of this clinical manifestation.