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

Small round cell sarcomas (SRCS) are the most aggressive tumors of children and young adults. They constitute a heterogeneous group of neoplasms that can be divided into different subtypes based on clinical, morphological, immunophenotypic and molecular features. A subset of SRCS, however, lack specific characteristics and are included in a group of undifferentiated sarcomas. Some of these tumors often resemble Ewing sarcoma morphologically, but lack its classical immunoprofile and genetic features, and are known as “Ewing-like” sarcomas. 

Using next-generation sequencing techniques Pierron et al. identified a novel BCOR-CCNB3 fusion gene resulting from a X-chromosomal paracentric inversion. In undifferentiated sarcomas, exon 15 of BCOR and exon 5 of CCNB3, which are located at Xp11.4 and Xp11.22 respectively, are linked. This fusion gene has been identified mainly in male adolescents and young adults SRCS of bone. This finding was confirmed in later studies where BCOR-CCNB3 fusion was associated with “Ewing-like” sarcomas. Read more>>>>>>