RESUMEN
BACKGROUND: Ependymomas are the third most common central nervous system tumor in the pediatric population; however, spinal ependymomas in children are rare. Ependymomas affecting the spinal cord most frequently occur in adults of 20-40 years of age. The current World Health Organization classification system for ependymomas is now composed of ten different entities based on histopathology, location, and molecular studies, with evidence that the new classification system more accurately predicts clinical outcomes. CASE PRESENTATION: We present the case of a 16-year-old Caucasian female patient with a history of type 2 neurofibromatosis with multiple schwannomas, meningioma, and spinal ependymoma. Chromosome analysis of the harvested spinal ependymoma tumor sample revealed a 46,XX,-6,+7,-22,+mar[16]/46,XX[4] karyotype. Subsequent OncoScan microarray analysis of the formalin-fixed paraffin-embedded tumor sample confirmed + 7, -22 and clarified that the marker chromosome represents chromothripsis of the entire chromosome 6 with more than 100 breakpoints. Fluorescent in situ hybridization and microarray analysis showed no evidence of MYCN amplification. The final integrated pathology diagnosis was spinal ependymoma (central nervous system World Health Organization grade 2 with no MYCN amplification. CONCLUSION: This case adds to the existing literature of pediatric patients with spinal ependymomas and expands the cytogenetic findings that may be seen in patients with this tumor type. This case also highlights the value of cytogenetics and microarray analysis in solid tumors to provide a more accurate molecular diagnosis.
Asunto(s)
Cromotripsis , Ependimoma , Neoplasias Meníngeas , Neoplasias de la Médula Espinal , Adulto , Humanos , Niño , Femenino , Adolescente , Cromosomas Humanos Par 6 , Hibridación Fluorescente in Situ , Neoplasias de la Médula Espinal/diagnóstico , Neoplasias de la Médula Espinal/genética , Neoplasias de la Médula Espinal/patología , Ependimoma/diagnóstico , Ependimoma/genética , Ependimoma/patologíaRESUMEN
Thirty-three percent of early traumatic deaths are secondary to hemorrhage. In addition to timing to source control, the literature has seen a surge of research on adjuncts in hemorrhage control. This review focuses on three of the latest interventions in the management of the bleeding patient; an endovascular aortic occlusive balloon, tranexamic acid (TXA), and updates to the massive transfusion protocol.