Open AccessAn undifferentiated sarcoma with BCOR-CCNB3 fusion transcript - pathological and clinical retrospective study
Author(s) -
Lenka Krsková,
Edita Kabíčková,
Eva Drahokoupilová,
Kateřina Kopečková,
L Plank,
Pavla Vítková,
Marcela Mrhalová,
Josef Zámečnı́k,
Roman Kodet
Publication year - 2018
Publication title -
neoplasma
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.628
H-Index - 50
eISSN - 1338-4317
pISSN - 0028-2685
DOI - 10.4149/neo_2018_171107n716
Subject(s) - sarcoma , fusion gene , fusion transcript , pathology , undifferentiated pleomorphic sarcoma , pathological , medicine , cancer research , biology , gene , soft tissue sarcoma , genetics
The BCOR-CCNB3 positive sarcoma is a recently identified sarcoma morphologically and clinically similar to Ewing sarcoma in adolescents and young adults. The BCOR-CCNB3 fusion transcript originates from a paracentric inversion on the X chromosome with an in-frame fusion between the last codon of BCOR and the exon 5 of CCNB3 gene. We report morphological and molecular genetic analysis of 8 undifferentiated sarcomas positive for the BCOR-CCNB3 fusion. Six of the eight BCOR-CCNB3 positive sarcoma patients were male. Five of the eight patients were in their second decade of life (median of all patients 14 years at diagnosis). The bone marrow involvement was demonstrated in 2 of 4 patients tested. Detection of the fusion transcripts BCOR-CCNB3 in the bone marrow suggests that patients with positive findings are at high risk of the tumor progression.