Genomic signatures in pediatric advanced stage Burkitt lymphoma/leukemia in a Chinese population detected by next generation sequencing

Introduction Burkitt lymphoma/leukemia (BL/BAL) is the most common lymphoma in children, and sporadic subtype dominant Chinese populations. MYC gene translocations are essential for BL/BAL (sBL/BAL), but other mutations also play important roles sBL/BAL. Material methods Clinical data of ten children with sBL/BAL were collected, next generation sequencing tumor tissues was carried out. Cases BL diffuse large B cell (DLBCL) collected from a database, bioinformatics analysis conducted Results Nine boys one girl enrolled, average age at diagnosis 100.10±13.39m; rearrangements confirmed. The patients received combination treatment chemotherapy rituximab. All achieved complete remission alive without relapse. Germline causal detected four (40%) by whole-exome sequencing; ID3, BRCA2, ARID1A SMARCA4 mutations, addition to somatic mutations. Gene functions etiology different between DLBCL datasets. identified mutated genes enriched connected GO or KEGG pathways, it seemed that PI3K-Akt signaling pathway played sBL/BAL; EGFR-TKI resistance analyzed. Conclusions might be index identify case difficult pathologic samples. Molecular hallmark translocation, whereas additional occur progression disease. controlled curbing pathway; not helpful