Balkan Journal of Medical Genetics

UNUSUAL MANIFESTATION OF EXTRAOSSEOUS EWING SARCOMA: REPORT OF 3 CASES
Ioannidou M.1,*, Tsotridou E.1, Samoladas E.2, Tragiannidis A.1, Kouskouras K.3, Sfougaris D.4, Spyridakis I.5, Foroulis C.6, Galli-Tsinopoulou A.1, Hatzipantelis E.1
*Corresponding Author: MD Maria Ioannidou, St Kiriakidi 1, Children’s and Adolescent’s Hematology- Oncology Unit of 2nd Department of Pediatrics, AUTh, AHEPA University General Hospital, Thessaloniki, Greece. Zip code: 54621. Tel.: 00306942067923. E-mail: ioannidou@auth.gr
page: 77

CASE REPORT 1

A 13-year-old boy presented to the emergency department with persistent pain located in the right hemithorax. There was no history of trauma and no signs or symptoms of infection. A week prior to admission, the patient had noticed a stabbing pain in his right hemithorax and was referred by his pediatrician for a chest X-ray, which revealed a homogeneous opacification of the right lung. On physical examination, a healthy young male with a normal posture was observed. On percussion, a dull sound was found in the right upper zone of the chest, while auscultation revealed normal cardiac sounds without murmurs and normal breathing sounds on the left and lower right side of the chest. Abdominal examination did not reveal palpable masses or other abnormalities. Also, no palpable lymph nodes were found. Subsequent computed tomography (CT) revealed an expansive lobular mass (86x47x42mm) in the right hemithorax in continuity with the parietal pleura containing fluid-filled cysts (Figures 1 a and b). No bone involvement or distant metastatic disease were detected. Molecular analysis revealed chimeric transcripts of (t[11;22][q24;q12]), EWS-ERG (t[21;22][q22;q12]) and EWS-WT1(t[11;22][p13;q12]). Using immunohistochemistry, tumor cells were positive for Vimentin and CD99+, and lacked CD45, CK8/18, TdT and desmin staining. The morphology, in combination with immunophenotype, was compatible with EES. After total resection of the mass, chemotherapy according to EURO-E.W.I.N.G. 99 protocol was initiated and completed without adverse events. After 3 years of follow-up, there are no signs of recurrence.

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