The progress of pathogenesis and treatment in angioimmunoblastic T-cell lymphoma / 中国肿瘤临床

Angioimmunoblastic T-cell lymphoma (AITL) is one of the most common subtypes of peripheral T-cell lymphomas. It is a fol-licular T-helper-derived neoplasm, and characterized by the presence of some genetic alterations, such as mutations in TET2, DN-MT3A, IDH2, and RHOA. Anthracycline-containing regimens represent the most widely adopted first-line option; however, new biolog-ic agents should be designed and incorporated to improve treatment response. The elucidation of the specific roles of these genetic al-terations in AITL will facilitate the development of molecularly targeted therapies to treat this disease.

Correlations of mutations of IDH1,IDH2,p53 gene and Ki-67 protein expression in gliomas with the clini cal features of pathological grading / 实用医学杂志

Objective To investigate the mutations of IDH1,IDH2,p53 gene,and Ki-67 protein expression in different grade of gliomas and identify the association with its clinical relevance. Methods The mutations of IDH1,IDH2 and p53 gene were detected by direct DNA sequencing,and protein expression of Ki-67 was analyzed by immunohistochemistry. The correlations between gender,age,tumor site,differentiation degree and pathological type of patients were analyzed. Results R132H mutation of IDH1 gene was detected in 32.6% samples (14/46 cases),of which the proportion of WHO classification grade Ⅱ was 40.0%,and grade Ⅲ was 58.3%. IDH1 mutations were shown correlated with age,pathology level Ⅱ-Ⅲ,and Ki-67 low expression. p53 mutations were detected in 4 glioblastomas,with mutations located at exon 7,8. IDH1 gene mutation was negatively correlated with Ki-67 expression. Conclusions The proportion of IDH1 gene mutation in different pathological types of gliomas is different,which is the highest in gradeⅡ~Ⅲ. It is suggested that the subtypes should be listed independently by routine tests. Mutations in p53 gene are more common in primary glioblastomas and may be associated with adverse outcomes. The combined detection of DH1,p53 and Ki-67 is conducive to the diagnosis and prognosis of glioma.

Correlation of Genomic Characteristic with Disease Progression in Polycythemia Vera / 天津医药

Objective To screen mutations in genes including ASXL1, TET2, IDH1, IDH2, SETBP1, MPL515, JAK2 exon 12 and JAK2V617 in 135 polycythemia vera (PV) patients. To assess progreasson and genomics characteristics post polycythemic myelofibrosis. Methods DNA sequencing of ASXL1(Exon12),TET2 (Exons 3-11),IDH1(Exon4),IDH2(Ex-on4),SEPBP1(Exon4),JAK2 exon 12 and MPL515 (Exon 10) genes were carried out using Sanger method. JAK2V617 muta-tion was detected by allele-specific PCR in patients with PV. In the mean time, the mutation load of JAK2V617F allele (V617F%) was evaluated by real-time PCR using Tagman MGB probe. Then, the significant of gene mutations and clinical outcomes of post-PV Myelofibrosis(PPMF)was analyzed. To study risk factors of PPMF, logistic regression were employed. Results ASXL1, TET2, IDH1, IDH2 were mutated in 7.69%(8/104), 5.26%(1/19) , 0.08%(1/120) and 0.08%(1/121) of all PV patient respectively. JAK2 was mutated in 82.22%(111/135) of PV patients with mutation rate of exon12 of 2.96%(4/135) and there were no mutation of MPL515 and SETBP1 in PV patients. ASXL1 mutation was found in 31.82%(7/22) PPMF patients. Spearman analysis showed that ASXL1 is correlated with JAK2V617F (V617F%) (rs=0.298,P=0.002). The hemo-globin was lower in patients with ASXL1 mutation than patient without mutation (wild type). Leukocyte count, V617F%>50%rate, thrombosis and PPMF were higher in patients with ASXL1 mutation than that of ASXL1 wild type(P＜0.05). ASXL1 mu-tation, V617F%>50% rate and splenomegaly were all risk factors of PPMF. Conclusion ASXL1 mutation is the risk-fac-tor of PPMF and may promote V617F%by some mechanism.