Distinct Viral and Mutational Spectrum of Endemic Burkitt Lymphoma

• DOI: 10.1371/journal.ppat.1005158
• Publication Date: 2015-10-15T20:11:41Z
• Authors: Francesco Abate; Maria Raffaella A...; Lucia Mundo; Maria Antonella L...; Fabio Fuligni; Maura Rossi; Sakellarios Zairis; Sara Gazaneo; Giulia De Falco; Stefano Lazzi; Cristiana Bellan; Bruno Jim Rocca; Teresa Amato; Elena Marasco; Maryam Etebari; Martin Ogwang; Valeria Calbi; Isaac Ndede; Kirtika Patel; David Chumba; Pier Paolo Piccaluga; Stefano Pileri; Lorenzo Leoncini; Raul Rabadan
• Keywords: Gammaherpesvirinae; Lytic cycle

Endemic Burkitt lymphoma (eBL) is primarily found in children equatorial regions and represents the first historical example of a virus-associated human malignancy. Although Epstein-Barr virus (EBV) infection MYC translocations are hallmarks disease, it unclear whether other factors may contribute to its development. We performed RNA-Seq on 20 eBL cases from Uganda showed that mutational viral landscape more complex than previously reported. First, we presence herpesviridae family members 8 (40%), particular herpesvirus 5 confirmed their by immunohistochemistry adjacent non-neoplastic tissue. Second, identified distinct latency program EBV involving lytic genes association with TCF3 activity. Third, comparing published data sporadic (sBL), detected lower frequencies mutations MYC, ID3, TP53, higher frequency mutation ARID1A samples. Recurrent two not associated were 20% tumors: RHOA cyclin F (CCNF). also observed polyviral samples numbers somatic common altered comparison sBL specimens, suggesting dual mechanisms transformation, versus driven respectively.