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Efficacy and prognostic factors of imatinib plus CALLG2008 protocol in adult patients with newly diagnosed Philadelphiachromosome-positive acute lymphoblastic leukemia

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《医学前沿（英文）》 2017年 第11卷 第2期   页码 229-238 doi: 10.1007/s11684-017-0506-y

摘要：

A CALLG2008 protocol was developed by the Chinese Acute Lymphoblastic Leukemia Cooperative Group for adult acute lymphoblastic leukemia (ALL). We retrospectively analyzed 153 newly diagnosed adult patients with Philadelphia chromosome (Ph)-positive ALL enrolled into imatinib (400 mg/d) plus CALLG2008 regimen between 2009 and 2015. The median age was 40 years (range, 18–68 years), with 81 (52.3%) males. The overall hematologic complete remission (CR) rate was 96.7% after induction. With a median follow-up of 24.2 months, the estimated 3-year overall survival (OS) and event-free survival (EFS) rates were 49.5% (95% confidence interval (CI): 38.5%–59.5%) and 49.2% (95% CI: 38.3%–59.2%), respectively. Fifty-eight (36 with haploidentical donor) patients underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT) in first CR. Among the patients in CR1 after induction, both the 3-year OS and EFS were significantly better in the allo-HSCT group than in the without allo-HSCT group (73.2%, 95% CI: 58.3%–83.5% vs. 22.2%, 95% CI: 8.7%–39.6% and 66.5%, 95% CI: 50.7%–78.2% vs. 16.1%, 95% CI: 5.1%–32.7%, respectively). Multivariate analysis showed that allo-HSCT and achievement of major molecular response were associated with favorable OS or EFS independently. Interestingly, in the allo-HSCT cohort, the donor type (haploidentical versus matched donors) had no significant impact on EFS or OS. All these results suggested that imatinib plus CALLG2008 was an effective protocol for Ph-positive ALL. Haploidentical donors can also be a reasonable alternative expedient donor pool.

关键词： Philadelphia chromosome     acute lymphoblastic leukemia     imatinib     CALLG2008    

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Philadelphia chromosome-positive acute myeloid leukemia with masses and osteolytic lesions: finding of

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《医学前沿（英文）》 2017年 第11卷 第3期   页码 440-444 doi: 10.1007/s11684-017-0523-x

摘要：

Philadelphia chromosome-positive acute myeloid leukemia is controversial and difficult to distinguish from the blast phase of chronic myeloid leukemia. As a myeloid neoplasm, rare cases of this leukemia manifest multiple soft-tissue tumors or bone lytic lesions. In this paper, we describe a 49-year-old male patient who had an abrupt onset with sharp chest pain, fever, fatigue, emaciation, and splenomegaly. 18F-fluoro-deoxy-glucose positron emission tomography/computed tomography (18F-FDG PET/CT) result showed diffuse and uneven hypermetabolic lesions in the bone marrow with peripheral bone marrow expansion, multiple soft tissue neoplasms with high 18F-FDG uptake, and lytic bone lesions. Bone marrow smear and biopsy detected aberrant blast cells expressing myeloid rather than lymphoid immunophenotype marker. For the existence of Philadelphia chromosome and BCR-ABL1 fusion gene together with complex chromosome abnormalities, a diagnosis of Philadelphia-positive acute myeloid leukemia was made, although the type (de novo or blast crisis) remained unclear.

关键词： Philadelphia chromosome     acute myeloid leukemia     mass     osteolysis     positron emission tomography    

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The predictive value of chromosome 8p deletion for metastasis of hepatocellular carcinoma: a summary

QIN Lunxiu, TANG Zhaoyou, GUAN Xinyuan, YE Qinghai, JIA Huliang, REN Ning

《医学前沿（英文）》 2008年 第2卷 第3期   页码 211-215 doi: 10.1007/s11684-008-0041-y

摘要： Hepatocellular carcinoma (HCC) represents an extremely poor prognostic cancer, which is mainly due to the high frequency of metastasis/recurrence after surgical operation. Exploring the molecular mechanisms involved in HCC metastasis could be helpful in the prediction and early diagnosis of HCC recurrence and could also provide new therapeutic targets for HCC metastasis. In the recent decade, we analyzed the genomic aberrations of the clinical specimens, as well as the metastatic models and cell lines of human HCC to identify the genetic markers related to HCC metastasis and to verify their clinical values in the prediction and control of metastasis of HCC. Using the comparative genomic hybridization (CGH) technique, we compared the differences of chromosomal aberrations between primary HCC tumors and their matched metastatic lesions, and found that chromosome 8p deletions might contribute to HCC metastasis. This novel finding was further confirmed by comparison between nude mice models of HCC with different metastatic potentials. By the more sensitive genome-wide microsatellite analysis, 8p deletion was defined to 8p23.3 and 8p11.2, which are two likely regions harboring metastasis-related genes of HCC. Using ‘8p-specific’ microarrays, two novel metastatic suppressors ( and ) were identified, and were proven to suppress invasion and metastasis of HCC. Clinical studies indicate that 8p deletion detected in HCC or circulating plasma DNA of patients is a useful predictor for metastatic recurrence and prognosis, even for patients with early stage HCC. These novel findings are regarded as important advances in the study of the molecular mechanisms of HCC metastasis, which provide not only a holistic view on the molecular cytogenetic bases of HCC metastasis, but also candidate regions for further study to identify metastatic suppressor genes.

关键词： sensitive genome-wide     prediction     genome-wide microsatellite     frequency     Hepatocellular carcinoma    

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A bacterial artificial chromosome-based physical map of

Yuhua FU,Zhiqiang XIA,Shujuan WANG,Xin CHEN,Cheng LU,Mingcheng LUO,Hongbin ZHANG,Wenquan WANG

《农业科学与工程前沿（英文）》 2016年 第3卷 第4期   页码 321-329 doi: 10.15302/J-FASE-2016124

摘要： Cassava ( ) is known as the third most important food crop in the tropics and also used for industrial feedstock for biofuels. Two new bacterial artificial chromosome (BAC) libraries were constructed for W14 ( ssp. ), a wild ancestor of domesticated cassava. The libraries were constructed with RI and dIII insertion vectors, respectively. The RI library has 29952 clones with an average insert size of 115 kb, while the dIII library consists of 29952 clones with an average insert of 129 kb. The combined libraries contain a total of 59904 clones with an average insert size of 125 kb, representing approximately 10 × haploid genome equivalents. A total of 29952 clones were fingerprinted and resulted in a cassava physical map composed of 2485 contigs with an average physical length of 336 kb and 2909 singletons, representing approximately 762 Mb of the cassava genome. 5000 clones located at the ends of BAC contigs were selected and sequenced. A total of 6077 SNPs and 231 indels were identified, that covered 459 gene sequences, of which 6 genes were associated with starch and sucrose metabolism. This BAC-based physical map provides valuable tools to understand the genetics and evolution of cassava.

关键词： cassava     BAC library     physical map    

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244对有不良孕产史夫妇初次染色体断裂率检测结果分析

余宏亮,常明秀,曹恒海,薄立伟,王艳丽,吴艳红

《中国工程科学》 2014年 第16卷 第5期   页码 67-69

摘要：

为了了解有不良孕产史夫妇的染色体断裂率的发生情况，笔者对来河南省人口和计划生育科学技术研究院就诊的有不良孕产史夫妇的染色体断裂率分析的检查结果进行统计学分析。分析结果显示：男性患者的就诊年龄平均为29.07 岁，女性患者的就诊年龄平均为28.15 岁，年龄与染色体检测结果间无相关。男性患者中未发现断裂的占男性总数的32.38 %，女性患者中未发现染色体断裂的占女性总数的37.7 %；男性染色体断裂率为1 的占男性总数的38.11 %，女性染色体断裂率为1 的占女性总数的34.43 %；男性染色体断裂率为2 的占男性总数的21.72 %，女性染色体断裂率为2 的占女性总数的23.36 %；男性染色体断裂率为3 的占男性总数的7.79 %，女性染色体断裂率为3 的占女性总数的2.87 %；女性染色体断裂率为4 的占女性总数的0.82 %；女性染色体断裂率为6 的占女性总数的0.41 %；女性染色体断裂率为9 的占女性总数的0.41 %。男性患者的染色体断裂率均值无差别（P>0.05）。男、女患者的染色体断裂率均值在1.01，患者平均年龄为29.53 岁，经检查有染色体断裂占64.96 %。通过研究发现，染色体断裂率增高可能是引起夫妇中发生胎停、流产、胎儿发育不良等不良孕产现象的重要原因之一。

关键词： 不育夫妇     不良孕产     染色体断裂率    

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Genomic regions associated with the sex-linked inhibitor of dermal melanin in Silkie chicken

Ming TIAN,Rui HAO,Suyun FANG,Yanqiang WANG,Xiaorong GU,Chungang FENG,Xiaoxiang HU,Ning LI

《农业科学与工程前沿（英文）》 2014年 第1卷 第3期   页码 242-249 doi: 10.15302/J-FASE-2014018

摘要： A unique characteristic of the Silkie chicken is its fibromelanosis phenotype. The dermal layer of its skin, its connective tissue and shank dermis are hyperpigmented. This dermal hyperpigmentation phenotype is controlled by the sex-linked inhibitor of dermal melanin gene ( ) and the dominant fibromelanosis allele. This study attempted to confirm the genomic region associated with . By genotyping, was found to be closely linked to the region between GGA_rs16127903 and GGA_rs14685542 (8406919 bp) on chromosome Z, which contains ten functional genes. The expression of these genes was characterized in the embryo and 4 days after hatching and it was concluded that , encoding methylthioadenosinephosphorylase, would be the most likely candidate gene. Finally, target DNA capture and sequence analysis was performed, but no specific SNP(s) was found in the targeted region of the Silkie genome. Further work is necessary to identify the causal mutation located on chromosome Z.

关键词： sex-linked inhibitor of dermal melanin (Id)     Silkie     chromosome Z    

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Expression of recombinant human butyrylcholinesterase in the milk of transgenic mice

Dan LU,Shengzhe SHANG,Shen LIU,Ying WU,Fangfang WU,Tan TAN,Qiuyan LI,Yunping DAI,Xiaoxiang HU,Yaofeng ZHAO,Ning LI

《农业科学与工程前沿（英文）》 2014年 第1卷 第3期   页码 179-184 doi: 10.15302/J-FASE-2014020

摘要： Butyrylcholinesterase (BCHE) is a natural bioscavenger that protects humans against organophosphate toxicity. Due to the limited yield of human BCHE (hBCHE) when purifying from human plasma, it is necessary to find an alternative method to produce this protein. One potential method is to produce transgenic livestock that make modified milk containing high concentration of hBCHE. In this study, we cloned the gene into a human lactoferrin (hLF) bacterial artificial chromosome (BAC) construct to make a hLF-hBCHE BAC construct. Subsequently, we injected the BAC construct into pronuclei of mouse fertilized embryos and generated transgenic mice. Expression analysis showed that recombinant hBCHE (rhBCHE) was expressed efficiently in the mammary gland of the transgenic mice and the concentration of rhBCHE in the milk of individual mice ranged from 76±12 to 159±28 mg·L . Protein function tests showed that rhBCHE has the same enzymatic activity as the native hBCHE. Our results pave the way for making transgenic livestock to produce large quantities of rhBCHE.

关键词： recombinant human butyrylcholinesterase (rhBCHE)     human lactoferrin bacterial artificial chromosome (hLF BAC)     transgenic mice     milk    

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A rare case of B-lymphoproliferative disorder with villous lymphocytes harboring t(8;14)(q24;q32) translocation

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《医学前沿（英文）》 2018年 第12卷 第3期   页码 324-329 doi: 10.1007/s11684-017-0558-z

摘要：

Splenic lymphoma with villous lymphocytes (SLVL) or splenic marginal zone lymphoma with circulating villous lymphocytes is rare, and prolymphocytic transformation of SLVL is rarer. At present, only one case of SLVL with t(8;14)(q24;q32) translocation has been reported. In this study, we report a case of B-lymphoproliferative disorder with villous lymphocytes harboring t(8;14)(q24;q32) chromosome translocation that we inclined to SLVL with a prolymphocytic transformation. A 73-year-old female showed marked hepatosplenomegaly and high lymphocytosis (lymphocytes>200×109/L). The abnormal lymphocytes had short coarse villi and round nuclei with prominent nucleoli. The immunophenotypes showed CD19+, CD20+, HLA-DR+, CD22+, CD5+, Kappa+, CD25dim, CD71dim, Lambda−, CD7−, CD10−, CD23−, CD34−, CD33−, CD13−, CD14−, CD117−, CD64−, CD103−, and CD11c−. The karyotype showed complex abnormality: 46XX,+3,−10, t(8;14)(q24;q32)[11]/46XX[9]. The cytoplasmic projection, immunological characteristics, and trisomy 3 chromosome abnormality supported the diagnosis of SLVL. However, the presence of prominent nucleoli and high lymphocytosis suggested prolymphocytic transformation, probably as a result of t(8,14) chromosome translocation. In this report, we described an unusual case of B-lymphoproliferative disorder with villous lymphocytes harboring t(8;14)(q24;q32) translocation, which could provide help in the diagnosis and differential diagnosis of B-lymphocytic proliferative diseases.

关键词： splenic lymphoma with villous lymphocytes     splenic marginal zone lymphoma     transformation     chromosome translocation    

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标题 作者 时间 类型 操作

Efficacy and prognostic factors of imatinib plus CALLG2008 protocol in adult patients with newly diagnosed Philadelphiachromosome-positive acute lymphoblastic leukemia

null

期刊论文

Philadelphia chromosome-positive acute myeloid leukemia with masses and osteolytic lesions: finding of

null

期刊论文

The predictive value of chromosome 8p deletion for metastasis of hepatocellular carcinoma: a summary

QIN Lunxiu, TANG Zhaoyou, GUAN Xinyuan, YE Qinghai, JIA Huliang, REN Ning

期刊论文

A bacterial artificial chromosome-based physical map of

Yuhua FU,Zhiqiang XIA,Shujuan WANG,Xin CHEN,Cheng LU,Mingcheng LUO,Hongbin ZHANG,Wenquan WANG

期刊论文

244对有不良孕产史夫妇初次染色体断裂率检测结果分析

余宏亮,常明秀,曹恒海,薄立伟,王艳丽,吴艳红

期刊论文

Genomic regions associated with the sex-linked inhibitor of dermal melanin in Silkie chicken

Ming TIAN,Rui HAO,Suyun FANG,Yanqiang WANG,Xiaorong GU,Chungang FENG,Xiaoxiang HU,Ning LI

期刊论文

Expression of recombinant human butyrylcholinesterase in the milk of transgenic mice

Dan LU,Shengzhe SHANG,Shen LIU,Ying WU,Fangfang WU,Tan TAN,Qiuyan LI,Yunping DAI,Xiaoxiang HU,Yaofeng ZHAO,Ning LI

期刊论文

A rare case of B-lymphoproliferative disorder with villous lymphocytes harboring t(8;14)(q24;q32) translocation

null

期刊论文