alexa Female New-Born with Undifferentiated Sarcoma Defined by Bcor-Ccnb3 Fusion Transcript
ISSN: 2161-0681

Journal of Clinical & Experimental Pathology
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Research Article

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:
Salva RN
Department of Pathology, Medical School
University of Valencia, Avda. Blasco Ibáñez
17, 46010, Valencia, Spain
Tel: 963983948
Fax: 963983226
E-mail: [email protected]

Received date: July 15, 2015; Accepted date: August 03, 2015; Published date: August 05, 2015

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.

 

Abstract

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.

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