Clinical Efficacy of R-EDOCH Protocol in the Treatment of Newly Diagnosed Double Expression Lymphoma / 中国实验血液学杂志

OBJECTIVE@#To investigate the clinical efficacy of R-EDOCH protocol in the treatment of newly diagnosed double expression lymphoma.@*METHODS@#The clinical data of 51 patients with newly diagnosed double expression lymphoma treated by R-EDOCH protocol were retrospectively analyzed in the period from May 2012 to October 2017, then overall remission rate (ORR), disease control rate (DCR), progression-free survival (PFS) rate and total survival (OS) rate were evaluated; moreover the patients were grouped according to IPI score and whether accepting hematopoietic stem cell transplantation(HSCT) and the clinical efficacy was compared.@*RESULTS@#The ORR was 96.08% (49/51) and DCR was 100.00% (51/51) in all patients. Six cases out of 51 patients (11.76%) relapsed and progressed during the followed-up. The followed-up showed that 2 year-PFS rate and OS rate were 84.31% (43/51) and 94.12% (48/51) respectively. The ORR, SD rate, 2 year-PFS rate and OS rate in the patients with IPI 0-2 and 3-5 scores were no statistically different(p>0.05); the 2 year-PFS and OS rates between patients in subgroup of IPI 0-2 and 3-5 scores also were not statistically different (p>0.05), no matter whether the patients received auto-HSCT or not. The comparison of 2 year-PFS and OS rates in auto-HSCT patients and non-auto-HSCT patients showed no statistical difference(p>0.05).@*CONCLUSION@#The R-EDOCH protocol in treatment of newly diagnosed double expression lymphoma possess the good overall clinical efficacy, the combination of R-EDOCH with auto-HSCT displays ascending trend of PFS.

Pathogenic Genes of A Hereditary Hemorrhagic Telangiectasia Pedigree / 中国实验血液学杂志

<p><b>OBJECTIVE</b>To identify the mutation of ENG and ALK1 genes in a hereditary hemorrhagic telangiectasia pedigree.</p><p><b>METHODS</b>14 exons of ENG gene and 9 exons of ALK1 gene in 11 menbers of this pedigree 4 generation were amplified by reverse transcription-polymerase chain reaction (RT-PCR), the PCR products were screened by direct sequencing.</p><p><b>RESULTS</b>A nonsense mutation c.447G > A was found in exon 4 of ENG gen of the pedigreee, resulting in change of Trp 149 into Stop, while no gene mutation was found in ALK1 gene.</p><p><b>CONCLUSION</b>The hereditary hemorrhagic telangiectasia in this pedigree is caused by the nonsense mutation c.447G > A in ENG gene.</p>

Effect of BCL11A gene on transcription of γ-globin gene / 中国实验血液学杂志

This study was aimed to explore the effect of BCL11A gene on transcription of γ-globin gene in K562 cells. B-cell lymphoma/leukemia 11A (BCL11A) gene was silenced by small interfering RNA (siRNA) expression vectors in K562 cells (human erythroblastic leukemia cell line). Gamma-globin mRNA level in K562 cells was determined by RT-PCR. Association between the BCL11A gene and γ-globin gene transcription was explored by comparison of mRNA levels. The results indicated that the silence rate of the BCL11A gene in K562 cells by 4 siRNA expression vectors was 49.7%, 55.4%, 78.2%, and 84.1%, respectively. The siRNA expression vector with 84.1% silence rate was transfected into K562 cells, transcription level of γ-globin mRNA in K562 cells transfected with siRNA expression vector increased 2.4 times as compared with control K562 cells. It is concluded that level of γ-globin mRNA increases when the BCL11A gene is silenced. It indicates that the BCL11A gene may be a negative regulator for γ-globin gene expression.

Mutation analysis of UGT1A1 gene in patients with unconjugated hyperbilirubinemia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze potential mutations of uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) gene in patients with unconjugated hyperbilirubinemia, and to explore the correlation between the mutations and total serum bilirubin levels.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples of patients. Coding sequence and promoter region of the UGT1A1 gene were amplified. Mutations were identified through DNA sequencing.</p><p><b>RESULTS</b>Mutations of the UGT1A1 gene were found in 46 out of 61 patients with unconjugated hyperbilirubinemia. Five types of mutations were detected, with a decreasing order of 211G>A, TA insertion in the TATAA promoter element, 686C>A, 1091C>T and 1352C>T. Compared with those carrying a single homozygous mutation or compound heterozygous mutations, total serum bilirubin was higher in those carrying a homozygous mutation in combination with other heterozygous mutations (P< 0.05). Based on the UGT1A1 gene mutations and level of total serum bilirubin, 44 patients were diagnosed with Gilbert syndrome, and 2 were diagnosed with Crigler-Najjar syndrome type 2.</p><p><b>CONCLUSION</b>The level of total serum bilirubin is correlated with the number of UGT1A1 gene mutations as well as their heterozygous or homozygous status.</p>