Female New-Born with Undifferentiated Sarcoma Defined by <em>Bcor-Ccnb3</em> Fusion Transcript | OMICS International| Abstract
ISSN: 2161-0681

Journal of Clinical & Experimental Pathology
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  • Research Article   
  • J Clin Exp Pathol 2015, Vol 5(5): 244
  • DOI: 10.4172/2161-0681.1000244

Female New-Born with Undifferentiated Sarcoma Defined by Bcor-Ccnb3 Fusion Transcript

Martín-Vañó S1, Berbegall AP1, Navarro L1, Blanquer-Maceiras M1, Beléndez-Bieler C2, Garrido-Colino C2, Navarro S1 and Rosa Noguera Salvá1*
1Department of Pathology, Medical School, University of Valencia, Medical Research Foundation INCLIVA, Valencia, Spain
2Pediatric Oncology and Hematology Section, General University Hospital Gregorio Marañón, Madrid, Spain
*Corresponding Author : Rosa Noguera Salvá, Department of Pathology, Medical School, University of Valencia, Avda. Blasco Ibáñez, 17, 46010, Valencia, Spain, Tel: 963983948, Fax: 963983226, Email: [email protected]

Received Date: Jul 15, 2015 / Accepted Date: Aug 03, 2015 / Published Date: Aug 05, 2015


A female new-born presented with a sacrococcygeal mass with spinal cord compression. A preliminary histologic diagnosis determined a small round blue cell tumor and immunohistochemical results discarded neuroblastoma, rhabdomyosarcoma, rhabdoid tumor, Ewing or peripheral neuroectodermal tumor (PNET). The results obtained by SNPa showed a chromosome Xp11.4 deletion of 0.9 Mb, where the BCOR gene is located. RT-PCR did not detect the ETV6-NTRK3 or EWSR1-FLI1 fusion, but did reveal the presence of the BCOR-CCNB3 fusion transcript, recently reported in some undifferentiated sarcomas, establishing the diagnosis of “Ewing-like” sarcoma. Analysis of CCNB3 expression by immunohistochemistry showed nuclear overexpression in 100% of tumor cells. The patient received aggressive chemotherapy which reduced the size of the tumor, but ultimately the patient died of liver failure secondary to infection with adenovirus 5 months after diagnosis. While the literature reports the predominance of these tumors in male children or young adults, we present the first case in a female new-born. This finding supports the need for further studies to look for the presence of the BCOR-CCNB3 fusion transcript in younger patients, to achieve an effective sub-classification within undifferentiated sarcomas.

Keywords: BCOR-CCNB3 sarcoma; Undifferentiated sarcoma; “Ewing-like” sarcoma; Small round cell tumor

Citation: Martín-Vañó S, Berbegall AP, Navarro L, Blanquer-Maceiras M, Beléndez-Bieler, et al. (2015) Female New-Born with Undifferentiated Sarcoma Defined by Bcor-Ccnb3 Fusion Transcript. J Clin Exp Pathol 5:244. Doi: 10.4172/2161-0681.1000244

Copyright: © 2015 Martín-Vañó S et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.