Molecular profile & clinical outcome in 121 cases - experience from a tertiary referral centre in South India


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Article type :

Original Article

Author :

Kiruthiga K G, Anne Jennifer Prabhu*, Rekha Pai, Leni G Mathew, Dhananjayan S, Selvamani Backianathan

Volume :

10

Issue :

2

Abstract :

Background: Ewing sarcoma is the second most common sarcoma involving the bones in children and adolescents. Published data on the clinical features, morphology, translocation and follow-up of patients with Ewing sarcoma from India, is sparse. Objectives of this study were to analyse the clinico-pathologic features of Ewing sarcoma and compare with translocation status, BCoR immunohistochemistry, treatment and survival. Materials and Methods: 406 cases of Ewing sarcoma were diagnosed in the Department of Pathology, Christian Medical College, Vellore during the period 2008-2015. 135 patients underwent molecular testing for common translocations by RT-PCR and were included in this study. Results: Mean age of patients at diagnosis was 22 years. Most common location of tumour was appendicular skeleton (31.4%) and 19% had solid organ involvement. Distant metastasis was present in 21.5% patients. Translocation was seen in 63 (46.7%) cases, EWS-FLI1 type I (87%), EWS-FLI1 type II(11%) and one patient had EWS-ERG translocation. Seven out of 30 patients were classified as “Sarcoma with BCOR genetic alteration”. Patients who underwent 6 cycles of chemotherapy had a better mean survival. Mean follow-up was 13.72 months and 3 year event free survival of patients was 93.8%. Conclusions: Percentage of viable tumour  

Keyword :

BCoR, CD99, Ewing sarcoma, FLI1, Translocation.