Trends in survival of patients with stage I/II Burkitt lymphoma in the United States: A SEER database analysis

et al. 2021

Arch Med Sci

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.

Section: Discussionsupporting

confidence: 87%

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

Xiao

et al. 2021

Arch Med Sci

“…Overexpression of CD20 and the restricted expression of Kappa or Lambda chains are remarkable in BL/BAL, and with combination treatment of intensive chemotherapy and a speci c CD20 monoclonal antibody (rituximab), the survival rate of pediatric sBL/BAL has exceeded 90%. The EFS of the ten patients in the study was 100%, and the treatment, diagnosis, and results of these patients was consistent with the literature [13][14].…”

Section: Discussionsupporting

confidence: 87%

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

Guo

et al. 2020

Preprint

Background: Burkitt 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 the development of sBL/BAL. Methods: The clinical data of ten Chinese children with sBL/BAL were collected, and next generation sequencing of their tumor tissues was conducted. Cases of BL and diffuse large B cell lymphoma (DLBCL) were also collected from a database, and bioinformatics analysis was conducted.Results: Nine boys and one girl were enrolled in the study, including six BL patients (stage III) and four BAL patients (stage IV). The average age at diagnosis was 100.10±13.39m; overexpression of CD20 was detectable, and MYC rearrangements were confirmed. The patients received combination treatment of chemotherapy and rituximab. All patients achieved complete remission and survived. Germline causal gene mutations were detected in four (40%) patients by whole-exome sequencing (WES); ID3, BRCA2, ARID1A and SMARCA4 mutations, in addition to MYC mutations, were the most common somatic mutations. The 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, and it seemed that the PI3K-Akt signaling pathway or the EGFR-TKI resistance pathway played important roles in the etiology of sBL/BAL. Conclusion: sBL/BAL is a highly aggressive but curable lymphoma; its etiology and pathology require additional research. The molecular hallmark of sBL/BAL is MYC translocation, whereas additional chromosomal abnormalities and gene mutations also occur and play roles in the progression of the disease. The PI3K-Akt signaling pathway seems to play important roles in the development of sBL/BAL, and sBL/BAL may be inhibited by this signaling pathway. The EGFR-TKI resistance pathway was also analyzed in sBL/BAL patients, revealing that EGFR-TKI treatment is invalid in this disease. Further research is needed for hypothesis development and possible mechanism discovery.

“…The prognosis of sBL/BAL remains poor in past decades, with short, intensive chemotherapy, the survival rate had been improved steadly. Overexpression of CD20, restrict expression of Kamppa or Lambda chain are remarkable in BL/BAL, with combination treatment of intensive chemotherapy and CD20 monoclonal antibody (Rituximab), the prognosis of pediatric sBL/BAL had exceed to 90%, EFS of the ten patients in the study was 100%, the treatment and diagnosis for these patients was alike with literatures [13][14].…”

Section: Discussionsupporting

confidence: 53%

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

Guo

et al. 2020

Preprint

Background: Burkitt lymphoma/leukemia (BL/BAL) is the most common lymphoma in chidren and sporadic subtype is dominant in Chinese population. MYC gene translocation is essential for sporadic BL/BAL (sBL/BAL), whereas other gene mutations also play important roles in the development of sBL/BAL. Methods: The clinical data of ten Chinese children with sBL/BAL were collected; next generation sequencing of tumor tissues were detected. BL and diffused large B cell lymphoma (DLBCL) database was also collected and bioinformatics analyzed was done.Results: Nine male and one female were enrolled in the study, including six BL patients (stage III) and four BAL patients (stage IV). Average age at diagnosis was 100.10±13.39mon; overexpression of CD20 was detectable, MYC rearrangement were confirmed. The patients received combination treatment of chemotherapy and Rituximab, complete remission was achieved and all the patients survived. Germline causal gene mutations were detected in four (40%) patients by whole exome sequencing (WES); ID3, BRCA2, ARID1A and SMARCA4 mutations, except MYC mutation, were the most common somatic mutations. The gene functions in pathopoiesis were differ from BL to DLBCL in dataset. These identified mutated genes were enriched and connected by GO or KEGG pathway, it seemed that PI3K-Akt signaling pathway or EGFR-TKI resistance pathway play important roles in the pathopoiesis of sBL/BAL. Conclusion: sBL/BAL is a highly aggressive but curable lymphoma; the pathophysiolopoiesis is still in research. The molecular hallmark of sBL/BAL is MYC translocation, whereas additional chromosomal abnormalities and gene mutations also occur and play roles in the progression of the disease. PI3K-Akt signaling pathway seems play important roles in the pathopoiesis of sBL/BAL, and sBL/BAL may be inhibited by such signaling pathway; EGFR-TKI resistance pathway was also analyzed in sBL/BAL patients, it reveals that EGFR-TKI treatment is invalid. Further research is needed for the hypothesis and possible mechanisms.