RESUMEN
El tumor neuroectodérmico primitivo (PNET) es un tumor de células pequeñas, redondas y azules de rara presentación renal. La embolia pulmonar es excepcional en la edad pediátrica, no obstante, su presentación como embolismo masivo tiene como primera causa una neoplasia subyacente. Presentamos un caso de muerte súbita por embolismo pulmonar debido a un tumor no diagnosticado en una niña de 11 años. El estudio autópsico demostró la presencia de un tumor renal, que tras el estudio histopatológico, inmunohistoquímico y citogenético se diagnosticó como PNET (AU)
A primitive neuroectodermal tumor (PNET) is a small, round, blue cell, rare primary tumor in the kidney. Pulmonary embolism in children is uncommon, although an underlying malignancy is the leading cause of massive embolism. We present a case of sudden death due from metastatic pulmonary embolism due to an undiagnosed tumor in an 11-year-old female. The autopsy showed presence of a kidney tumor, which after histopathological, immunohistochemistry, and cytogenetic analyses, was diagnosed as a PNET (AU)
Asunto(s)
Humanos , Femenino , Niño , Embolia Pulmonar/mortalidad , Muerte Súbita , Tumores Neuroectodérmicos Periféricos Primitivos/mortalidad , Medicina Legal/métodos , Diagnóstico Diferencial , Medicina Legal/normas , Autopsia/métodos , Autopsia/normas , AutopsiaRESUMEN
p73, a homolog of the p53 tumor suppressor, codes for full-length transactivating (TA) and N-terminally truncated (DeltaN) isoforms, with pro- and anti-apoptotic activities, respectively. We examined the expression of the main p73 isoforms in adult human and mouse telencephalon and choroid plexus by immunohistochemistry on paraffin sections, and immunoblotting (IB) of tissue extracts and cerebrospinal fluid (CSF), using antibodies against different protein domains. Cortical neurons expressed TAp73 predominantly in the cytoplasm and DeltaNp73 mainly in the nucleus, with partial overlap in the cytoplasm. Highest expression was found in the hippocampus. IB showed an array of TAp73 variants in adult human cortex and hippocampus. IB of human choroid plexus and CSF using TAp73-specific antibodies revealed the presence of a approximately 90-kDa protein whose molecular weight was reduced after N-deglycosylation, suggesting that glycosylated TAp73 is exported into the CSF. In the mouse, high expression of TAp73 was also detected in the subcommissural organ (SCO), an ependymal gland absent in adult humans. TAp73 colocalized with anti-fibra-Reissner-antibody (AFRU), which is a marker of Reissner's fiber, the secreted SCO product. p73-deficient mice had generalized cortical hypoplasia and hydrocephalus; in addition, we observed a dramatic size reduction of the choroid plexus. However, the SCOs were apparently unaltered and continued to secrete Reissner's fiber. Our findings point to complex and widespread p73 activities in the maintenance of adult cortical neurons and in brain homeostasis. TAp73 in the CSF may play important roles in the maintenance of the adult ventricular wall as well as in the development of the proliferating neuroepithelium.