ABSTRACT
El tumor neuroectodérmico primitivo periférico/sarcoma de Ewing, descrito a comienzos del siglo XX, es un tumor muy maligno poco frecuente de gran mortalidad, cuya causa es la translocación t(11;22)(q24;q12) en células derivadas de la cuarta hojilla embrionaria o células de la cresta neural que, por su posibilidad de diferenciación en linajes mesenquimales craneocefálicos, fácilmente se convierte en metastásico. Se encuentra bajo la denominación de enfer- medades raras debido a su baja frecuencia de aparición. A nivel mundial se han referenciado, menos de 20 casos con afectación periférica extraósea congénita y este es el primero en reportarse en Colombia. En el presente caso se describe la lesión tumoral extraesquelética con metástasis a pulmón y a cerebro, en un neonato de sexo femenino, fruto de un embarazo único, prematuro, sin reporte de exposición a factores de riesgo medioam- bientales, que fue remitida con la lesión tumoral al segundo día de vida, por dificultad respiratoria grave progresiva a falla respiratoria. La bebé fue atendida en la unidad neonatal de la Fundación Cardioinfantil de Bogotá.
A female premature infant with no history of exposure, who on presented a peripheral primitive neuroectodermal tumor/extraosseous Ewing sarcoma with metastases to lungs and brain which rapidly invaded the airways. The knowledge of this exotic neoplasm could support the diagnosis and management of newborns with this rare tumor associated with respiratory failure and high mortality. This is the first newborn report of pPNET/Ewing sarcoma in South America, of which fewer than twenty cases have been published. Primitive neuroectodermal tumors or Ewing Sarcoma (PNET/ES) are an aggressive, rare and lethal tumor family of small blue cells with a varied histological morphology that affect the nervous system, skeleton, soft tissues, skin, or parenchymal organs. They are prevalent in the second decade of life, more frequent in whites, male/female 1.3-1.5:1, 85% are caused by nonrandom translocation t(11;22)(q24;q12) limited to the tumor, and therefore non-heritable, with chimeric EWS/FLI1 fusion and a positive CD99 immuno- phenotype. The reporting of this rare tumor associated with neonatal respiratory failure could facilitate its diag- nosis and early treatment.
O tumor neuroectodérmico primitivo periférico extra esquelético /Sarcoma de Ewing, descrito a inicios do século XX, é um tumor raro e maligno que apre-senta alto grau de mortalidade devido à translocação t(11;22)(q24;q12) em células derivadas da quarta hojilla embrionária ou crista neural que por possibilidade de diferenciação de linagens mesenquimales cráneocefá-lico, pode virar facilmente em metastasico.Trata-se de uma doença rara, debido à baixa frequência de aparição. Mundialmente tem se referenciado apro-ximadamente 15 eventos com afetação periférica extraóssea congênita e este é o primeiro caso reportado na Colômbia. No artigo se descreve a lesão tumoral extraesquelética com metastasis no pulmão e cérebro apresentado em neonato feminino produto de gravidez única pre-térmo sem reporte de exposição a fatores de risco medioambientais. O bebe foi remitido com lesão tumoral no segundo dia de ida, por ter apresentado difi-culdade respiratória progressiva grave e insuficiência ventilatória, foi atendida na unidade neonatal da Funda-cion Cardioinfantil (FCI-IC), na cidade de Bogotá.
Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Congenital Abnormalities , Neoplasm Metastasis , Sarcoma, Ewing/embryology , Neuroectodermal Tumors, Primitive, Peripheral/embryology , Cesarean Section , Colombia , Rare Diseases/complications , Rare Diseases/embryology , Risk FactorsABSTRACT
The most frequently occurring chromosomal translocation that gives rise to the Ewing's sarcoma family of tumors (ESFT) is the chimeric fusion gene EWS-FLI1 that encodes an oncogenic protein composed of the N terminus of EWS and the C terminus of FLI1. Although the genetic basis of ESFT is fairly well understood, its putative cellular origin remains to be determined. Previous work has proposed that neural crest progenitor cells may be the causative cell type responsible for ESFT. However, surprisingly little is known about the expression pattern or role of either wild-type EWS or wild-type FLI1 in this cell population during early embryonic development. Using the developing chick embryo as a model system, we identified EWS expression in emigrating and migratory neural crest stem cells, whereas FLI1 transcripts were found to be absent in these populations and were restricted to developing endothelial cells. By ectopically expressing EWS-FLI1 or wild-type FLI1 in the developing embryo, we have been able to study the cellular transformations that ensue in the context of an in vivo model system. Our results reveal that misexpression of the chimeric EWS-FLI1 fusion gene, or wild-type FLI1, in the developing neural crest stem cell population leads to significant aberrations in neural crest development. An intriguing possibility is that misexpression of the EWS-FLI1 oncogene in neural crest-derived stem cells may be an initiating event in ESFT genesis.
