SESSION TYPE: Cancer Cases I
PRESENTED ON: Monday, October 22, 2012 at 01:45 PM - 03:00 PM
INTRODUCTION: Ewing Sarcoma (ES)/Primitive neuro-ectodermal tumor (PNET) is a rare malignant tumor with a predilection for males with the ratio of 1.4 to 1. This tumor usually occurs in bones and extraskeletal occurrences (particularly airways) is exceedingly rare.
CASE PRESENTATION: A 45 year-old Asian non-smoking male with past medical history significant for coronary artery bypass on aspirin, plavix, and coumadin presented to the ER complaining of multiple episodes of hemoptysis over 24 hours. The patient was found to have coumadin-induced coagulopathy which was reversed with fresh frozen plasma. CT scan of the neck and thorax revealed only a mass in the proximal trachea. Bronchoscopy confirmed a tracheal mass on the posterior wall 3 cm from the carina. A 10mm x 9mm multi-lobulated mass was excised with electrocautery hot loop. H &E stained sections revealed hyperchromatic population of cells underlying the normal respiratory epithelium with moderate pleomorphism and mitotic activity. Immunoperoxidase stains were positive for vimentin and synaptophysin. They were negative for S100. Tumor was found strongly positive for CD99. Fluorescescence in-situ hybridization (FISH) demonstrated 99% of cells positive for EVSR1 gene at chromosome 22q12. Patient was given a final diagnosis of Ewing Sarcoma.
DISCUSSION: ES /PNET is a malignant tumor that usually occurs in flat and long bones primarily in caucasian children and young adults rarely affects other ethnic groups . Immuno-histochemical staining with CD99 is supportive of ES/PNET tumors is required to make a definitive diagnosis . FISH procedure confirms the diagnosis through detection of the highly specific translocation of EWSR1 gene on 22q12 . There have been reports of primary extraskeletal ES/PNET tumors in the lung, but only one has been reported in the tracheobronchial tree .
CONCLUSIONS: The first case of primary ES/PNET of the trachea was described in 2010 by Elmi et al , which presented with acute airway obstruction and hemoptysis. We present the second case of ES/PNET in the trachea. However this is the first documented case on a middle age asian-male.
1) Elmi, Maryam et al. Primary tracheal Ewing's sarcoma. Annals of Thoracic Surgery. 2010 oct;90(4):1349-52.
2) Ushigome S, Machinami R, Sorensen PH. Ewing sarcoma/primitive neuroectodermal tumour (PNET). In: FletcherCDM, UnniKK, MertensF, editors. Pathology and genetics of tumours of soft tissue and bone. World Health Organization classification of tumours. Lyon: IARC Press, 2002: 297-300
3) Jennifer Worch, et al.Racial differences in the incidence of mesenchymal tumors associated with EWSR1 translocation. Cancer Epidemiology, Biomarkers and Prevention. 2011 Mar;20(3):449-53
DISCLOSURE: The following authors have nothing to disclose: Nelson Medina, Navneet Arora, Pratick Patel, Nazly Shariati
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