RESUMEN
AIMS: To perform a clinicopathological analysis of a series of primary cutaneous Ewing sarcomas/primitive neuroectodermal tumours (ES/PNET) to highlight the pathological features, discuss the differential diagnosis, emphasise the role of molecular testing (particularly fluorescence in situ hybridisation, FISH) in diagnosis and outline the patients' clinical course. METHODS: Seven cases of primary cutaneous ES/PNET were identified from the authors' consultation files. RESULTS: The patients were aged 16-61 years (median 25). Five were female and two were male. Five cases involved the limbs and two the trunk. Five were initially misdiagnosed (three as carcinoma and two as melanoma). All cases were characterised histologically by sheet-like growth of small round cells with little cytoplasm and showed strong membranous staining for CD99 and positive but variable staining for FLI-1. Six patients showed an EWS rearrangement (five on FISH analysis and one on RT-PCR). All tumours were completely excised. Three patients received adjuvant chemotherapy, one of whom also received radiotherapy. Follow-up was available in all cases (range 11-57 months; median 41). No recurrences or metastases occurred. CONCLUSIONS: Although rare, primary cutaneous ES/PNET should be considered in the differential diagnosis of cutaneous "small blue cell tumours". Immunostaining for FLI-1 and molecular testing for evidence of an EWS rearrangement are useful ancillary investigations to confirm the diagnosis. The prognosis of primary cutaneous ES/PNET appears to be more favourable than extracutaneous ES/PNET.
Asunto(s)
Tumores Neuroectodérmicos Periféricos Primitivos/diagnóstico , Sarcoma de Ewing/diagnóstico , Neoplasias Cutáneas/diagnóstico , Adolescente , Adulto , Biomarcadores de Tumor/metabolismo , Diagnóstico Diferencial , Femenino , Estudios de Seguimiento , Reordenamiento Génico , Humanos , Hibridación Fluorescente in Situ/métodos , Masculino , Melanoma/diagnóstico , Proteínas de Microfilamentos/metabolismo , Persona de Mediana Edad , Proteínas de Neoplasias/metabolismo , Tumores Neuroectodérmicos Periféricos Primitivos/genética , Tumores Neuroectodérmicos Periféricos Primitivos/patología , Tumores Neuroectodérmicos Periféricos Primitivos/terapia , Proteínas de Fusión Oncogénica/genética , Pronóstico , Proteína Proto-Oncogénica c-fli-1/genética , Proteína EWS de Unión a ARN/genética , Receptores Citoplasmáticos y Nucleares/metabolismo , Sarcoma de Ewing/genética , Sarcoma de Ewing/patología , Sarcoma de Ewing/terapia , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/terapia , Transactivadores , Adulto JovenAsunto(s)
Aorta/diagnóstico por imagen , Aortitis/diagnóstico por imagen , Arteritis de Células Gigantes/diagnóstico por imagen , Anciano , Aorta/cirugía , Aortitis/tratamiento farmacológico , Aortitis/cirugía , Implantación de Prótesis Vascular , Puente de Arteria Coronaria , Resultado Fatal , Femenino , Radioisótopos de Flúor , Fluorodesoxiglucosa F18 , Arteritis de Células Gigantes/tratamiento farmacológico , Humanos , Complicaciones Posoperatorias , Prednisona/uso terapéutico , Radiografía , Cintigrafía , RadiofármacosRESUMEN
We report 2 cases of meningiomas with rhabdoid morphology but lacking histological features of malignancy. Both occurred in adult women, one arising from the superior surface of the tentorium and the other in the Sylvian fissure. The tumors showed light microscopic, immunohistochemical and ultrastructural evidence of meningothelial differentiation together with diffuse or focal areas exhibiting rhabdoid morphology. The rhabdoid areas were characterized by cells with large cytoplasmic eosinophilic inclusions and large eccentric nuclei. Both cases showed areas with sheet-like growth and one had macronucleoli and brain invasion. The same case showed areas of necrosis that most likely related to pre-operative arterial embolization. Unlike most cases reported in the literature, these "rhabdoid meningiomas" lacked significant mitotic activity or other atypical features. The diagnostic and prognostic significance of this tumor entity is discussed along with a review of the literature.