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Xue C.,Lu Daopei Hematology cology Center | Yang Z.,Lu Daopei Hematology cology Center | Fang W.,Lu Daopei Hematology cology Center | Wen T.,Lu Daopei Hematology cology Center | And 6 more authors.
Journal of Leukemia and Lymphoma | Year: 2015

Objective To investigate the association of mutations in genes associated with familial hemophagocytic lymphohistiocytosis (FHL) and lymphoma with active human herpes virus (HHV) infection in Chinese patients. Methods Patients with either Hodgkin or non-Hodgkin lymphomas and active HHV infection were enrolled in. Active HHVl-8 infections were tested by PCR method. PCR amplification and Sanger sequencing for UNC13D, PRF1, STXBP2, STX11, SH2D1A, and XIAP were performed. Results 59 patients were collected (age, 3-60 years), including 33 males and 26 females. Mutations were observed in 15 patients (25.42 %). 10 patients carried mutations in UNC13D, including 7 cases with monoallelic mutations, 1 case with homozygous mutation and 2 cases with compound heterozygous mutations. 4 patients had PRF1 mutations, including 1 case with monoallelic mutation, 1 case with homozygous mutation and 2 cases with compound heterozygous mutations. 1 patient was detected to carry STX11 monoallelic mutation. All mutations were confirmed to be germline derived by pedigree analysis or sequencing of non-lymphoma tissue of the same patient. Conclusions A proportion of patients with HHV-lymphoma may harbor mutations of the FHL associated genes, which are probably the innate predisposing factors of active HHV infection and lymphomagenesis. © 2015 Editorial Board of Journal of Leukemia and Lymphoma. All rights reserved. Source


Fang W.,Lu Daopei Hematology cology Center | Yang Z.,Lu Daopei Hematology cology Center | Xue C.,Lu Daopei Hematology cology Center | Jiancheng F.,Lu Daopei Hematology cology Center | And 8 more authors.
Journal of Leukemia and Lymphoma | Year: 2015

Objective To investigate the mutaome profile of the 10 common mutated genes in newly diagnosed acute myeloid leukemia (AML) patients. Methods Gene mutations of ASXL1, CEBPA, DNMT3A, FLT3, IDH1/2, KIT, NPM1, PHF6 and TET2 were analyzed using Sanger sequencing method in bone marrow samples of 129 newly diagnosed AML patients. Results 68.99 % (89/129) patients carried at least one mutation, and 30.23 % (39/129) carried multiple mutations. Mutations of kinase gene FLT3 and KIT were mutually exclusive, and FLT3 mutations occured more often with other mutations, while KIT mutations usually occured alone. Mutations of transcription factor genes CEBPA, NPM1 and PHF6 were accompany with each other. Mutations of epigenetic regulation genes ASXL1, DNMT3A, IDH1/2 and TET2 were mutually exclusive, but were accompany with mutations of kinase or transcription factor genes. Conclusions There are certain rules in the appearance of genetic mutations, and which are related to the function and classification of genes. © 2015, Editorial Board of Journal of Leukemia and Lymphoma. All rights reserved. Source


Yang Z.,Lu Daopei Hematology cology Center | Fang W.,Lu Daopei Hematology cology Center | Xue C.,Lu Daopei Hematology cology Center | Jiancheng F.,Lu Daopei Hematology cology Center | And 10 more authors.
Journal of Leukemia and Lymphoma | Year: 2015

Objective To investigate the mutaome profiling of the 10 common mutated genes in refractory and relapsed acute myeloid leukemia (AML) patients. Methods 148 patients who were diagnosed as refractory and relapsed AML were enrolled. Mutations of 10 common mutated genes were analyzed in bone marrow samples by Sanger sequencing, including kinase genes FLT3 and KIT, transcription factor genes CEBPA, NPM1 and PHF6, as well as epigenetic regulation genes ASXL1, DNMT3A, IDH1, IDH2 and TET2. Results Mutations of the 10 genes were detected in 62.16 % (92/148) of the patients, and 10.14 % (15/148) of patients carried mutations of more than one gene. FLT3-ITD was the most frequently mutated gene, which was detected in 19.59 % (29/148) cases, followed by KIT (12.84 %, 19/148) and CEBPA (11.49 %, 17/148) mutations. KIT mutations usually occurred alone, while IDH1 and IDH2 often mutated accompanied with other genes. Mutations of kinase genes, including FLT3 and KIT, were mutually exclusive. Transcription factor genes and epigenetic regulation genes seldom mutated with genes of the same functional classification group. When patients were divided into two groups according to age, patients in the group of ≤ 35 years were more likely to harbor mutations of the single gene [61.77 % (63/102) vs 31.11 % (14/45), P < 0.05], while individuals in the group of > 35 years often carried mutations of more genes than one gene [20.00 % (9/45) vs 4.90 % (5/102), P < 0.05]. The mutation frequency of NPM1 in > 35 years group was higher than that in ≤ 35 years group [20.00 % (9/45) vs 2.94 % (3/102), P < 0.05]. Conclusions There were certain rules in the mutaome profiling of refractory and relapsed AML patients, which was related to the function classification of genes and age of patients. © 2015 Editorial Board of Journal of Leukemia and Lymphoma. All rights reserved. Source

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