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Burkitt lymphoma (BL) is a malignant tumor in children. Although BL is generally curable, early relapse and refractoriness may occur. Some molecular indicators have been recently suggested for BL diagnosis, but large heterogeneity still exists. This study aimed at providing clinical molecular targets and methods that may help improve diagnosis and treatment of childhood BL. Only children patients were included in the study, and targeted gene sequencing was conducted to identify tumor specific mutations. The mRNA and protein level expression of potential target genes were measured by real-time PCR and immunohistochemistry. The relationship between BL specific gene mutation and differential expression with clinical features was analyzed. The results showed that i) detailed analysis of c-MYC/BCL2/BCL6 gene loci alteration and gene expression would help in accurate diagnosis and treatment determination of childhood BL; ii) loss-of-function mutations in SOCS1 or CIITA gene might be used as malignant markers for BL diagnosis and prognosis; iii) specific mutations of CD79A, MYD88, KLF2, DNMT3A and NFKBIE genes often concurrently existed in BL and showed association with benign clinical outcomes; iv) the high expression of MYC, TCF3 and loss-of-function ID3 genes in tumor may be potential therapeutic targets and could be used for treatment monitoring; and v) four MYC-translocation negative cases were re-defined as high-grade B-cell lymphoma-not otherwise specified (HGBL-NOS) but showed similar clinical outcomes and molecular features to other BL cases in the study, suggesting more studies needed to explore the molecular mechanisms and clinical significance of this provisional tumor entity., Highlights • Detailed analysis of c-MYC/BCL2/BCL6 gene alteration and expression may help in accurate diagnosis and treatment; • The MYC-translocation negative cases (HGBL-NOS) showed similar clinical outcomes and molecular features to other cases; • Loss-of-function mutations of SOCS1 or CIITA gene could be used as malignant markers for diagnosis and prognosis; • Concurrent mutations in CD79A, MYD88, KLF2, DNMT3A and NFKBIE genes associated with benign clinical outcomes; • High expression of MYC, TCF3 and loss-of-function ID3 gene in tumor may be potential therapeutic targets.

Background: Burkitt lymphoma (BL) is the most common lymphoma in childhood. Apart from MYC rearrangement, considered the hallmark of the disease, BL often presents with additional chromosome aberrations, the biological and clinical significance of which is not fully understood. Materials and methods: The study included 72 children (55 boys, 17 girls), aged 2-16 years (median 9), with BL diagnosed on the basis of histopathology and a demonstrable MYC rearrangement. Touch imprints from the diagnostic biopsy samples were investigated with i-FISH for MYC, BCL2, BCL6, IGH, IGK and IGL rearrangements genes and copy number aberrations involving 1q21/1p32, 7cen/7q31, 9cen/9p21, 13q14/13q34 and 17cen/17p13. Deviations from the diploid status were further investigated for aneusomies of the carrier chromosome with the use of appropriate chromosome enumeration probes. Results: MYC gene was demonstrated in all cases with MYC/IGH fusion in 83.3% (60/72). 47 cases (65.3%) were found with least one additional aberration, most commonly with 1q gain (29.2%), 7q gain (19.4%), 13q deletion (19.4%), hemizygous 9p loss (8.3%) and hyperdiploidy (8.3%). Advanced clinical stage (IV), 7q gain (but not trisomy 7) and -9/9p- were significantly associated with shorter overall survival. There was no instance of relapse or death among the hyperdiploid cases. Conclusions: This extensive FISH investigation on imprints of affected tissue provides clinically meaningful information on the genetic profile of BL and may prove valuable in the management of patients with no karyotype available. In particular, the demonstration of hyperdiploidy through the use of chromosome enumeration probes could offer the means for the delineation of clonal evolution pathways and the recognition of a subgroup of children with excellent prognosis who could be cured with low-intensity chemotherapy regimens. Disclosures Kattamis: VIFOR: Consultancy; CRISPR/Vertex: Consultancy, Honoraria; Agios Pharmaceuticals: Consultancy; IONIS: Consultancy; BMS/Celgene: Consultancy, Honoraria, Research Funding; Chiesi: Honoraria; Novartis: Consultancy, Honoraria, Research Funding; Amgen: Consultancy.

OBJECTIVE. Burkitt lymphoma in children can be localized or disseminated and can involve various sites. Our objective is to review the clinical presentation and abdominopelvic imaging findings of Burkitt lymphoma in the pediatric population.CONCLUSION. Numerous abdominal and pelvic imaging findings are seen in Burkitt lymphoma affecting the gastrointestinal tract and solid organs. Recognition of the common and uncommon imaging findings is essential in the diagnosis and treatment of patients with Burkitt lymphoma because prompt therapy is critical.

Background: Burkitt Lymphoma is common childhood tumour in sub Saharan Africa but the lack of centralized database on childhood cancer in Nigeria has made it difficult having a nationwide picture of its occurrence in the country. Objectives: This study was aimed at pooling published data from across the country with the hope of providing an overview of the profile of the disease in Nigeria. Methods: literature search was carried out on Pub Med/MEDLINE and Cochrane databases for all articles published between January 1975 and July 2015 using search strings such as children, cancer, Burkitt’s, epidemiology, prevalence, treatment and Nigeria. Based on specific criteria, 39 studies were included. Results: Burkitt Lymphoma was the most common childhood malignancy in most parts of the country accounting for 18.3- 65.0% of malignant tumours but a few centers observed Retinoblas-toma as the most common. There was a decline in the frequency of Burkitt lymphoma in Ibadan from 1960-2010 and in Lagos. Peak ages of occurrence ranged from 5- 10 years, more males and children from low socio-economic classes were affected. Different centers reported predominant involvement of either the jaw or the abdomen but there were slightly more centers with predominance of the jaw. Retrospective studies yielded an estimated survival of 15-23% while the Event Free Survival probabilities at two years was 43% and 48% for the Nigerian centers that participated in an international study. Conclusion: Burkitt Lymphoma is a common tumour in Nigeria. Establishment of Cancer registries for better data capture and funding for better treatment outcomes is recommended. Keywords: Burkitt Lymphoma; Nigeria; childhood; tumours; cancer