Female New-Born with Undifferentiated Sarcoma Defined by Bcor-Ccnb3 Fusion TranscriptMartín-Vañó S1, Berbegall AP1, Navarro L1, Blanquer-Maceiras M1, Beléndez-Bieler C2, Garrido-Colino C2, Navarro S1 and Rosa Noguera Salvá1*
- *Corresponding Author:
- Salva RN
Department of Pathology, Medical School
University of Valencia, Avda. Blasco Ibáñez
17, 46010, Valencia, Spain
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.
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.