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