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Salmonella, a foodborne pathogen poses significant threats to food safety and human health. Immunochromatographic (ICTS) sensors have gained popularity in the field of food safety due to their convenience, speed, and cost-effectiveness. However, most existing ICTS sensors rely on antibody sandwich structures which are limited by their dependence on high-quality paired antibodies and restricted sensitivity. For the first time, we combined multi-line ICTS strips with fluorescent bacterial probes to develop a label-free multi-line immunochromatographic sensor capable of detecting broad-spectrum Salmonella. Salmonella was labeled with the aggregation-induced luminescence material TCBPE, resulting in its transformation into a green fluorescent probe. Using this sensor, we successfully detected Salmonella typhimurium within the concentration range of 104–108 CFU/mL with a visual detection limit of 6.0 × 104 CFU/mL. Compared to single-line sensors, our multi-line sensor exhibited significantly improved fluorescence intensity resulting in enhanced detection sensitivity by 50 %. Furthermore, our developed multi-line ICTS sensor demonstrated successful detection of 18 different strains of Salmonella without any cross-reaction observed with 5 common foodborne pathogens tested. The applicability and reliability were validated using milk samples, cabbage juice samples as well and drinking water samples suggesting its potential for rapid and accurate detection of Salmonella in real-world scenarios across both the food industry and clinical settings. In this experiment, we developed a TCBPE-based multiline immunochromatographic sensor. Specifically, Salmonella was labeled with the aggregation-induced luminescence material TCBPE, resulting in its transformation into a green fluorescent probe. Through the multi-line analysis system, the detection sensitivity and accuracy of the sensor are improved. In brief, the sensor does not require complex antibody labeling and paired antibodies, and only one antibody is needed to complete the detection process. [Display omitted] • A label-free and rapid multi-line ICTS sensor was established based on TCBPE for detecting Salmonella. • The developed ICTS sensor can detect 18 stains of Salmonella. • The ICTS sensor detection sensitivity of 6 × 104 CFU/mL for S. typhimurium. • The real samples of cabbage, milk, and drinking water were tested with visual LODs of 105 CFU/mL and 104 CFU/mL. [ABSTRACT FROM AUTHOR]

For RNA-seq studies, an important task is to identify genes that are differentially expressed between groups. Nevertheless, the identification of differentially expressed (DE) genes from a single study can be challenging as the small number of samples and the high sensitivity of data perturbations. Combining p -values from multiple RNA-seq studies can increase the statistical power and the accuracy in detecting DE genes. In this paper, we propose a weight and truncation p -value combination test for meta-analyzing RNA-seq studies. We show that with proper weight and truncation parameters, our new test has a higher statistical power over the existing tests, when the genes are weakly expressed in most studies and the sample size is unbalanced. We then present simulations and apply to two real data analysis. Finally, we provide some practical guidance for our new test and some existing p -value combination tests. • We propose a new p-value combination test for meta-analyzing multiple RNA-seq studies. • The new proposed test adopts data-driven weights and truncation p-values. • The performance of our new test exhibit some superiorities over the existing tests. • We provide some guidelines for the use of existing p-value combination tests. [ABSTRACT FROM AUTHOR]

The presence of malignant tumors poses a significant threat to people's life and well-being. As biochemical parameters indicate the occurrence and development of tumors, tumor markers play a pivotal role in early cancer detection, treatment, prognosis, efficient monitoring, and other aspects. Surface-enhanced Raman scattering (SERS) is considered a potent tool for the detection of tumor markers owing to its exceptional advantages encompassing high sensitivity, superior selectivity, rapid analysis speed, and photobleaching resistance nature. This review aims to provide a comprehensive understanding of SERS applications in the detection of tumor markers. Firstly, we introduce the SERS enhancement mechanism, classification of active substrates, and SERS detection techniques. Secondly, the latest research progress of in vitro SERS detection of different types of tumor markers in body fluids and the application of SERS imaging in biomedical imaging are highlighted in sections of the review. Finally, according to the current status of SERS detection of tumor markers, the challenges and problems of SERS in biomedical detection are discussed, and insights into future developments in SERS are offered. [Display omitted] • The SERS enhancement mechanism and SERS active substrates are overviewed. • SERS detection methods are classified as labeled-free and labeled detection. • The latest research progress of SERS in various tumor markers is discussed. • The challenges and perspectives concerning SERS technology are discussed. [ABSTRACT FROM AUTHOR]

[Display omitted] • Acidovorax citrulli can be detected with only one antibody. • The application of CA-TCBPE makes the detection signal brighter. • Acidovorax citrulli was successfully detected in Cucurbitaceae plants. The presence of Acidovorax citrulli (Ac), the etiological agent responsible for bacterial fruit blotch (BFB), exerts a profound impact on the growth and development of cucurbit plants. Therefore, it is imperative to promptly detect Ac to effectively mitigate the widespread dissemination of this disease among cucurbit crops. The present study describes the development of a novel label-free immunochromatographic strip (ICTS) sensor for the detection of Ac in cucurbit samples. This was achieved by utilizing 4',4"',4""',4"""'-(ethene-1,1,2,2-tetrayl) tetrabiphenyl-4-carboxylic acid (TCBPE) carboxyl activation product (CA-TCBPE) as a fluorescent probe. The CA-TCBPE@Ac complex is captured at the detection site through the immobilization of a monoclonal antibody monoclonal antibody (mAb) targeting Ac in this sensor. Under the excitation of 365 nm ultraviolet (UV) light, the detection of Ac in the concentration range of 105-108 CFU/mL was successfully achieved, with a visual detection limit of 105 CFU/mL. The accuracy of the sensor was further validated through experimentation with real samples, including watermelon, cantaloupe, cucumber, and zucchini. This study presents the pioneering development of a label-free ICTS sensor, utilizing TCBPE material markers, for rapid and sensitive detection of Ac. This innovative approach offers a robust solution for the swift detecting of Ac in cucurbits and other samples, thereby holding great promise for future applications. [ABSTRACT FROM AUTHOR]

Due to the high complexity, high destructive power, and comprehensive governance characteristics of public health emergencies, the ability of social governance has been distorted and alienated under intensive pressure, and the subjects of social governance have become lazy, professional, and politicized. There are obvious problems, such as system information leakage and information asymmetry. Based on the above background, the purpose of this article is to study the application of artificial intelligence to social governance capabilities under public health emergencies. This article focuses on the relevant concepts and content of emergency management of public health emergencies and in-depth analysis of the actual application of big data technology in epidemic traceability and prediction, medical diagnosis and vaccine research and development, people's livelihood services, and government advice and suggestions, combined with investigations. The questionnaire analysis sorted out the problems in the social emergency management of public health emergencies in China. The results showed that 87.7% of the people simply sorted out laws and regulations and higher-level documents or even repeated content and lacked summary and reflection on emergency response experience, which led to the operability of emergency plans being generally even poor. In response to the shortcomings, countermeasures and suggestions were put forward, including establishing a standard data collection mechanism, establishing a data sharing mechanism, establishing a personal privacy security protection mechanism, and promoting the breadth and depth of big data applications. [ABSTRACT FROM AUTHOR]

[Display omitted] • The primary biomarkers of prostate cancer are introduced. • Presents the analytic methods of important prostate cancer biomarkers. • Various biosensors for prostate cancer biomarkers are reviewed. • The challenges and perspectives concerning the biosensors are discussed. Prostate cancer (PCa) is the most common malignancy in men and one of the leading causes of cancer death. The early screening of PCa plays a crucial role in early diagnosis and subsequent treatment. Tumor markers as biochemical parameters can indicate the occurrence and progression of tumors, which act as pivotal tools for the monitoring of cancer status at early stage. This review describes various diagnostic methods for the detection of PCa biomarkers. Firstly, the major clinical tumor markers of prostate are briefly described. Then, expanding and complementing existing reviews, this article summarizes the benefits and drawbacks of various detection methods for PCa biomarkers, with a specific focus on the advancements of designing biosensors. Finally, the recent challenges and further directions for developing effective biosensors for early diagnosis of PCa are discussed. [ABSTRACT FROM AUTHOR]

With the attributes of high sensitivity, single-base resolution, multiplex detection capability, and programmability upon nucleic acid recognition, Argonaute (Ago)-based biosensing assays are increasingly recognized as one of the most promising tools for precise identification and quantification of target analytes. Employed as highly specific sequence recognition elements of these robust diagnostic methods, Agos are revolutionizing how nucleic acid targets are detected. A systematic and comprehensive summary of this emerging and rapid-advancing technology is necessary to give play to the potential of Ago-based biosensing assays. The structure and function of Agos were briefly overviewed at the beginning of the work, followed by a review of the recent advancements in employing Agos sensing for detecting various targets with a comprehensive analysis such as viruses, tumor biomarkers, pathogens, mycoplasma , and parasite. The significance and benefits of these platforms were then deliberated. In addition, the authors shared subjective viewpoints on the existing challenges and offered relevant guidance for the future progress of Agos assays. Finally, the future research outlook regarding Ago-based sensing in this field was also outlined. As such, this review is expected to offer valuable information and fresh perspectives for a broader group of researchers. • Argonaute has been widely applied in various targets detection. • Discussion of the significance and basic principles of Argonaute-based diagnostics. • Nucleic acid testing strategies of Argonaute based on binding activity and cleavage activity are fully analyzed. • The challenges and perspectives of targets detection using Argonaute have been proposed. [ABSTRACT FROM AUTHOR]

The prediction of major histocompatibility complex (MHC)-peptide binding affinity is an important branch in immune bioinformatics, especially helpful in accelerating the design of disease vaccines and immunity therapy. Although deep learning-based solutions have yielded promising results on MHC-II molecules in recent years, these methods ignored structure knowledge from each peptide when employing the deep neural network models. Each peptide sequence has its specific combination order, so it is worth considering adding the structural information of the peptide sequence to the deep model training. In this work, we use positional encoding to represent the structural information of peptide sequences and validly combine the positional encoding with existing models by different strategies. Experiments on three datasets show that the introduction of position-coding information can further improve the performance built upon the existing model. The idea of introducing positional encoding to this field can provide important reference significance for the optimization of the deep network structure in the future. [ABSTRACT FROM AUTHOR]

Controlling complex networks is of vital importance in science and engineering. Meanwhile, local-world effect is an important ingredient which should be taken into consideration in the complete description of real-world complex systems. In this letter, structural controllability of a class of local-world networks is investigated. Through extensive numerical simulations, firstly, effects of local world size M and network size N on structural controllability are examined. For local-world networks with sparse topological configuration, compared to network size, local-world size can induce stronger influence on controllability, however, for dense networks, controllability is greatly affected by network size and local-world effect can be neglected. Secondly, relationships between controllability and topological properties are analyzed. Lastly, the robustness of local-world networks under targeted attacks regarding structural controllability is discussed. These results can help to deepen the understanding of structural complexity and connectivity patterns of complex systems. [ABSTRACT FROM AUTHOR]

Abstract: A clinical and experimental study of acute lymphoblastic leukemia (ALL) with a dic(7;9)(p11;p11) included 7 patients (5 males and 2 females) with a median age of 32 years. Cytogenetic analysis of bone marrow cells using an R-band technique showed a solitary dic(7;9) in 2 cases and a dic(7;9) accompanied by other abnormalities in 5 cases, of which 4 had also a t(9;22)(q34;q11). A minor breakpoint region (m-bcr) BCR/ABL rearrangement, corresponding to the fusion product gene p190, was detected by interphase FISH in 3 of these cases, Immunophenotyping analysis classified five of the 6 cases as B-lineage ALL. In 6 cases, FISH using whole chromosome painting (WCP) probes for chromosome 7 and 9 confirmed the reciprocal translocation between chromosomes 7 and 9; centromeric probes for chromosomes 7 and 9 confirmed the dicentric nature of the abnormal chromosome. The outcome of these ALL cases with simultaneous dic(7;9) and t(9;22) was worse than that of cases with an isolated dic(7;9). Our study brings the total number of published ALL cases with a dic(7;9) to 18. We consider the dic(7;9) a rare but recurrent abnormality, which may represent a distinct cytogenetic subgroup in B-ALL. [Copyright &y& Elsevier]

We report on seven patients with myeloid diseases characterized by i(20q−) anomaly. Four patients were male and three were female, their median age was 57 years. The diagnosis at presentation was myelodysplastic syndrome in six patients, acute myeloid leukaemia in one patient. Four died but three survived and remain anaemic. The survivals were 6 months for patient 1, 7 months for patient 2, 17 d for patient 4 and 28 d for patient 5. Chromosome specimens were prepared by direct and/or short-term culture of bone marrow cells. Karyotype analysis was performed by R- and G-banding technique, which showed that one of the normal chromosomes 20 was substituted by one or two small metacentric chromosomes in all seven patients. The karyotype was ider(20)(q10)del(20)(q11q13), i.e. i(20q−) in six patients by dual-colour fluorescence in situ hybridization assay using two probes (a subtelomeric probe for 20q and an unique probe for 20q12). As far as we know, this anomaly has not been reported previously. Thus, we consider that i(20q−) is a novel and rare recurrent chromosomal abnormality that is specifically associated with myeloid diseases and may indicate a poor prognosis. [ABSTRACT FROM AUTHOR]

Tripartite motif-containing 22 (TRIM22) has been documented to participate in numerous cellular activities during human diseases. However, whether TRIM22 is involved in the regulation of neuronal survival during the progression of cerebral ischemia/reperfusion (I/R) injury remains unknown. In the present study, treatment of HCN-2 cells with oxygen–glucose deprivation/reoxygenation (OGD/R) markedly upregulated TRIM22 expression. A significant increase in TRIM22 expression was observed in the ischemic cortex tissues from middle cerebral artery occlusion/reperfusion mice. OGD/R inhibited the viability and induced the apoptosis of HCN-2 cells, which was accompanied by an increase in caspase-3 activity and an increase in LDH release. Furthermore, OGD/R increased the levels of tumor necrosis factor-alpha, interleukin (IL)-1 beta, IL-6, and monocyte chemoattractant protein-1 and induced NLRP3 inflammasome activation, as evidenced by increases in NACHT, LRR and PYD domains-containing protein 3, apoptosis-associated speck-like protein containing a caspase recruitment domain and cleaved caspase-1 expression and caspase-1 activity. However, these changes induced by OGD/R were blocked by silencing of TRIM22. In addition, TRIM22 regulated NF-κB activity in HCN-2 cells undergoing OGD/R stimulation. Furthermore, inhibition of NF-κB by pyrrolidine dithiocarbamate inhibited OGD/R-induced NLRP3 inflammasome activation in HCN-2 cells. Taken together, silencing of TRIM22 protects neurons against OGD/R-induced apoptosis and inflammation. The anti-inflammatory effect of TRIM22 knockdown was the consequence of inhibition of NF-κB/NLRP3 axis. TRIM22 may be a potential target for treating cerebral I/R injury. [ABSTRACT FROM AUTHOR]

This study reports 10 patients with hematological malignances with t(20;21)(q11;q11) resulting from del(20q) (for example, der(20)del(20)(q11q13)t(20;21)(q11;q11) and der(21)t(20;21)(q11;q11)) and described their clinical features and the possible prognostic significance of this abnormality. The t(20;21)(q11;q11) was a rare but recurrent abnormality secondary to del(20q) besides i(20q-). The frequency of der(20)del(20)(q11q13)t(20;21)(q11;q11) among our patients with del(20q) was 2.4%. It was considered that the 20q deletion preceded translocation with chromosome 21. This abnormality is often cryptic, occurs predominantly in older men and is observed most often in myelodysplastic syndromes. Patients with this abnormality have an unfavorable prognosis, similar to patients with i(20q-). The molecular consequences of der(20)del(20)(q11q13)t(20;21)(q11;q11) may be different from patients with i(20q-). To the best of our knowledge this is the largest dataset published to date. [ABSTRACT FROM AUTHOR]

The clinical and hematological characteristics and the prognostic significance of del(20q) were investigated in a consecutive series of 213 myeloid malignancies. In the analyses, the cases were divided into three subgroups according to diagnosis or four subgroups according to cytogenetic data. Patients in the myeloproliferative neoplasms subgroup had high WBCs and platelet counts at initial diagnosis. The del(20q) occurred predominantly in older men. Sole del(20q) was observed most often in myelodysplastic syndromes, while del(20q) as a part of complex karyotypes was observed predominantly in acute myeloid leukemia. The most frequent additional abnormalities accompanying del(20q) were −5/del(5q), −7/del(7q) and +8; t(20;21)(q11;q11) and double del(20q) were two rare but recurrent abnormalities secondary to del(20q). In all types of diseases, patients with a sole del(20q) had a favorable prognosis. The presence of any additional abnormality with del(20q) had an unfavorable outcome. Patients with i(20q) had an unfavorable prognosis. Patients with the minor del(20q) clone had a better median survival than those with the major del(20q) clone. [Copyright &y& Elsevier]

Abstract: Treatment of the disrupted digital flexor tendon is troublesome because of the lack of sufficient healing capacity and the formation of adhesions. Sustained gene delivery may be a promising approach of modulating gene expression in enhancing tendon healing and decreasing adhesions. In this study, a microRNA-based RNAi plasmid was used to specifically silence the expression of TGF-β1 gene associated with scar and adhesion formation in the flexor tendons. The miRNA plasmids were complexed with polylactic-co-glycolic acid (PLGA) nanoparticles to form nanoparticle/TGF-β1 miRNA plasmid (nanoparticle/plasmid) complexes. In vitro and in vivo transfection efficiencies experiments against tenocytes revealed that nanoparticle/plasmid complexes have significantly superior transfection efficiency over the lipofectamine/plasmid complexes. The gene and protein expression associated with adhesion of tendon treated with nanoparticle/plasmid complexes were evaluated by real-time PCR and immunoblotting. The grading of adhesions for tendons treated with nanoparticle/plasmid complexes was less severe than that treated with the nanoparticle/mock plasmid complexes. However, the ultimate strength of repaired tendons treated with nanoparticle/plasmid complexes was significantly lower than that of tendons treated with the nanoparticle/mock plasmid complexes. [Copyright &y& Elsevier]

Abstract: Here, a new acute myelomonocytic leukemia (AMML) cell line, JIH-3, is reported, and its biological characteristics are described. JIH-3 cells were maintained without any cytokines for 27 months. The JIH-3 cell line showed typical myelomonocytic morphological features. Additionally, it mainly expressed myeloid and monocytic markers (CD13, CD14, CD11b, CD15 and CD33), although it also expressed other antigens such as the markers of T and B lymphocytic lineage as well as stem cell, progenitor cell, and natural killer cell-related antigens (CD4, CD5, CD7, CD10, CD22, CD34, CD38, HLADR, CD16/CD56 and CD56); the expression of these markers, suggested that this cell line was in the early stage of myelomonocytic differentiation. Cytogenetic analysis initially showed a karyotype of 46, XY, del(7) (p1?3p2?2). During the passage period, the cells with this karyotype gradually decreased and were replaced by cells with a 45,XY,dic(4;7)(p11;p11),del(15)(q2?2) karyotype. Chromosome painting showed a deletion in the short arm of chromosome 7 for del(7)(p1?3p2?2) and der(4;7)(p11;p11). The latter had larger deleted segment than the former. Fluorescence in situ hybridization (FISH) revealed the dicentric nature of der(4;7), and Multiplex FISH (M-FISH) confirmed that der(4;7) was an unbalanced translocation. A deletion involving the 7p region on dic(4;7)(p11;p11) harbors many genes, including CDC2L5, C7ORF11, C7ORF10 and INHBA. Haploinsufficiency of the genes on 4p, 7p and 15q caused by deletions of 4p, 7p and 15q2?2 that resulted from dic(4;7)(p11;p11) and del(15)(q2?2) may play important roles in leukemogenesis and in the establishment of the JIH-3 cell line. JIH-3 cells did not express multidrug resistance (MDR)-related genes and apoptosis-related genes such as MDR1, multidrug resistance-related protein, lung resistance protein, BCL-2, Bax, GS-π or Fax, only P21 expression was detected, which probably leads the MDR indirectly through inhibition of the activities of cyclin-dependent kinase (CDK). JIH-3 cells had tumorigenic capacity in nude mice. In conclusion, JIH-3 is a new acute myelomonocytic leukemia cell line. It is from a well-characterized background and provides a new useful tool for the study of leukemia patients with a 7p deletion. [Copyright &y& Elsevier]

Abstract: Fluorescence in situ hybridization (FISH) is being used increasingly in cytogenetic diagnosis of myelodysplastic syndromes (MDS). However, the utility of FISH in this role has not been well-defined. A total of 249 de novo MDS patients were submitted to karyotyping and FISH analysis for −5/del(5)(q31), −7/del(7)(q31), +8, −17/i(17)(q10), del(20)(q12), and −Y. Of the 234 patients with available karyotypic data, 143 cases (60.9%) demonstrated normal karyotype and 91 cases (39.1%) showed abnormal karyotype. FISH confirmed R-banding findings in 96.6% (226/234) of samples with successful karyotyping and detected cytogenetic abnormalities in 46.7% (7/15) of cases with karyotype failure. Of the 3.4% (8/234) patients showing discrepancies between FISH and R-banding, FISH revealed cytogenetic abnormalities in four patients with normal karyotypes and four patients with complex karyotypes. These results highlight FISH analysis has limited value in MDS cases with successful karyotyping and is only informative in MDS cases with karyotype failure. [Copyright &y& Elsevier]

Human leukemia cell lines are powerful tools in the study of leukemogenesis, particularly for rare but recurrent subtypes such as acute myeloid leukemia (AML) with the t(16;21)(p11.2;q22) and FUS-ERG fusion. Four AML cell lines carrying a t(16;21)(p11.2;q22) have been described previously. We report a novel AML cell line, designated JIH-4, for which karyotypic analysis demonstrated a single abnormality, t(16;21)(p11.2;q22). The FUS-ERG fusion transcript was identified by reverse transcriptase polymerase chain reaction (RT-PCR). Neither Epstein-Barr virus nor mycoplasma was detected in JIH-4 cells. The morphology and immunoprofile of JIH-4 cells display typical features of myelogenous lineage, and short tandem-repeat PCR comparison with the donor patient’s bone marrow cells confirm the cell line’s authenticity. Tumor masses were found in 50% of inoculated mice 83 days after subcutaneous injection with JIH-4 cells. Our results confirm that JIH-4 cells are derived from the donor patient’s leukemia cells and support using the JIH-4 cell line as a valuable tool in the study of leukemogenesis. [ABSTRACT FROM AUTHOR]

Abstract: A pericentric inv(9)(p22q34) of the derivative chromosome 9 that resulted from a standard t(9;22)(q34;q11.2) was identified by R-banding karyotypic analysis and fluorescence in situ hybridization (FISH) assays in 4 (0.18%) of 2,200 Philadelphia chromosome (Ph)-positive leukemia patients, including 3 with chronic myeloid leukemia (CML) in chronic phase and 1 with acute myeloid leukemia (AML) in our hospital since 2004. All four patients had two malignant clones: one with only t(9;22)(q34;q11.2) and another with der(9)t(9;22)(q34;q11.2)inv(9)(p22q34) that resulted in the separation of the ABL1/BCR fusion gene. No metaphases with only inv(9)(p22q34) were seen in any of them. FISH also found a deletion of partial sequence of BCR on der(9)t(9;22)(q34;q11.2)inv(9)(p22q34) in 67.5% of bone marrow cells in the AML patient, but did not detect the deletion of the sequence of ASS/9q34 in these four patients. Reverse transcriptase–polymerase chain reaction revealed a b3a2 type of BCR/ABL1 fusion transcript in all of them, proving their disease to be Ph-positive leukemia. On reviewing the literature, only two solitary Ph-positive leukemia patients have been noticed to have the inv(9)(p22q34) anomaly. These two patients, together with our four documented patients, indicate that inv(9)(p22q34) is a novel, rare, but recurrent secondary chromosomal abnormality for Ph-positive leukemia. Despite receiving hydroxyurea therapy (n = 3 patients), combined chemotherapy (n = 2), even imatinib treatment (n = 1), three patients, including one with AML and two with CML (one of whom progressed into the lymphoblastic blast phase), died with survival times of 28 days, 13 months, and 34 months, respectively. Only one patient with CML remained alive for 5.5 months. Their negative outcome implies that inv(9)(p22q34) has an unfavorable impact on prognosis. Presently, no firm conclusions can be drawn from this study. Because the case number reported here is very small, more patients with this anomaly need to be investigated to elucidate its true prognostic significance. [Copyright &y& Elsevier]

Abstract: To date, at least 25 translocations involving the NUP98 gene and different partner genes have been reported in the literature. Here, we describe a novel reciprocal t(5;11)(q31;p15) involving NUP98, as revealed by conventional karyotypic analysis using R-banding technique and fluorescence in situ hybridization (FISH) using a BAC RP11-120E20 probe and whole chromosome paint probes for chromosomes 5 and 11 in a 77-year-old woman who was diagnosed as having de novo acute myeloid leukemia. The patient received two courses of intensive combined chemotherapy but did not reach complete remission. She eventually died from the progressive disease, surviving for only 1 month after diagnosis. FISH analysis using WCP5 together with BAC RP11-878F9 or RP11-155N22 demonstrated that the breakpoint of chromosome 5 is located on 5q31. In addition, the EGR1 gene was unexpectedly found to be lost in the FISH study using EGR1 (red)/D5S23, D5S721 (green) dual-color probe. We supposed that the fusion gene created by t(5;11)(q31;p15) consisting of the NUP98 and its partner gene, as well as the loss of the EGR1 gene, may play a cooperative role in leukemogenesis. The partner gene of NUP98 in t(5;11)(q31;p15) is unclear at this time. Further molecular study is required to identify this partner gene in our patient. [Copyright &y& Elsevier]

Abstract: Besides cytopenia, dysplasia is crucial characteristic of MDS-RA. To summarize the morphological features that contribute to the diagnosis of MDS-RA, 48 RA patients with abnormal karyotype were analyzed for the features of morphological and cytogenetical abnormalities and the relationships between them. 46 MDS-RA patients with normal karyotype and 207 patients with non-MDS anemia were enrolled into control groups. More conspicuous and diverse dysplasia can be found in abnormal karyotype MDS-RA than those in control groups (P <0.05). Apparent dysplasia in granulocyte and megakaryocytoid lineages may provide valuable evidence for the diagnosis. Dysplasia occurred more frequently in patients with severe chromosome abnormalities. [Copyright &y& Elsevier]

Abstract: Translocation (14;14)(q11;q32) is one of the recurrent chromosome aberrations in ataxia-teleangiectasia (AT) and T-cell malignancies. In patients with the t(14;14), the TCL1 and TCRα/δ genes were found to be involved at the molecular level. However, t(14;14)(q11;q32) is an exceedingly rare phenomenon in B-lineage acute lymphoblastic leukemia (B-ALL). To date, it has been reported in only 5 B-ALL cases. Here, we report another B-ALL case with t(14;14)(q11;q32) in a 39-year-old female. The immunophenotype of the blasts showed positivity for CD79a, CD10, CD19, and HLA-DR. Chromosome analysis of the bone marrow (BM) cells at presentation showed the karyotype 47,XX,+4,t(14;14)(q11;q32). Fluorescence in situ hybridization (FISH) demonstrated trisomy 4 and the simultaneous involvement of the IGH gene at 14q32 and the CEBPE gene at 14q11, which differs from the genes involved in T-cell leukemias. After chemotherapy, the patient achieved complete remission (CR). Later, she received allogeneic peripheral blood stem cell transplantation. After CR, the karyotype of the BM cells was normal. She was disease-free at a 6-month follow-up. We suggest that t(14;14)(q11;q32) involving the IGH and CEBPE genes in B-ALL is rare, but it is a recurrent abnormality that could identify a new subgroup of B-ALL. [Copyright &y& Elsevier]

Objective: To report here a new acute myelocytic leukemia (AML) cell line SH-2 and describe its biological characteristics. Materials and Methods: Mononuclear cells isolated from a patient with AML-M2 subtype were passaged by liquid culture medium. Interleukin-3 and bone marrow stromal cells were used to support cell proliferation at the first 3 months. Various methods, including cytogenetic analysis, fluorescence in situ hybridization (FISH), multiplex FISH (M-FISH), reverse transcriptase polymerase chain reaction (RT-PCR), multiplex RT-PCR, short tandem repeat (STR)–PCR, direct sequencing of DNA, clonogenic assay, and tumorigenicity in nude and severe combined immunodeficient (SCID) mice were employed to identify and characterize SH-2 cell line. Results: SH-2 cells were maintained without cytokine and stromal cells for 3 years. It had no Epstein-Barr virus or mycoplasma contamination. The SH-2 cell line showed typical myelocytic features in morphology and simultaneous strongly expressed myeloid antigens (CD13, 99.6% and CD33, 99.26%) and natural killer (NK)–related antigens (CD56, 99.5% and CD16/56, 99.62%) suggesting that SH-2 is an AML cell line with NK-antigen expression. SH-2 cell line initially showed a karyotype of 45, X, -Y, der(16)t(16;17)(q24;q12), −17, +19. During the passage period, the cells with a hypodiploid karyotype gradually decreased and were replaced by the near-tetraploid cells with a karyotype of 71-105(86), XX, -Y, -Y, der(16)t(16;17)×2, −17, −17, +19, +19. FISH and M-FISH delineated all abnormalities. SH-2 cells had the approximately same morphological, immunophenotypical, and cytogenetic features as the patient''s leukemia cells had. STR-PCR provided powerful evidence for the derivation of SH-2 cell line from the patient''s leukemia cells. SH-2 cells showed multiple drug resistance (MDR), which may be related to the p53 gene alteration, including the loss of one p53 allele due to the monosomy 17 and a point mutation of CAG to CAT at codon 576 of exon 5 in another p53 allele resulting in the loss of p53 gene function. In addition, SH-2 cell line did not express MDR-related genes, such as MDR1, multidrug resistance-related protein, and lung resistance protein, but expressed apoptosis-related genes, such as Bcl-2, Fas, glutathione S-transferase-π, and p21, which were also related to the MDR. SH-2 cell line had tumorigenic capacities in nude and SCID mice. Conclusion: Because SH-2 cell line had a clear biology background, it will provide a useful tool for the study of the pathogenesis and treatment strategy of AML with MDR. [Copyright &y& Elsevier]

Abstract: The cytogenetic anomaly der(20)del(20)(q11.2q13.3)idic(20)(p11), or idic(20q−) in short form, has been reported in 13 cases of myelodysplastic syndrome, one case of chronic myelomonocytic leukemia, and one case of acute myeloid leukemia since 2004. To our knowledge, it has not previously been described in lymphoid diseases. Here we report the cases of two patients with B-cell acute lymphocytic leukemia (ALL) having a novel idic(20q−). One was a 34-year-old man with B-cell ALL whose leukemic cells at presentation had a karyotype of 45,XY,dic(9;20)(p11;q11.2); at relapse, a small marker chromosome was found coexisting with the dic(9;20). The other was a 39-year-old woman with Ph-positive B-cell-ALL whose leukemic cells contained both t(9;22)(q34;q11.2) and a small marker chromosome. A series of FISH analyses using the appropriate probes revealed the small marker chromosome in both patients to be an idic(20q−), confirming the dic(9;20)(p11;q11.2) in one case and revealing a BCR/ABL fusion gene in the other. One patient achieved complete remission but relapsed; the other did not achieve complete remission. Both patients died with a short survival time, despite receiving intensive chemotherapy. These two cases show that idic(20q−) can appear not only in myeloid diseases but also in lymphoid diseases. [Copyright &y& Elsevier]

Abstract: Translocations involving 21q22 are commonly observed in both de novo and therapy-related acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). They often result in the disruption of RUNX1 and give rise to fusion genes consisting of RUNX1 and different partner genes, which contribute to leukemogenesis. To date, at least 21 such translocations are known from the literature. Here we report two novel translocations involving the RUNX1 gene: t(1;21)(q12;q22) in a 53-year-old woman with AML-M5b and t(11;21)(q13;q22) in a 65-year-old man with AML-M2. The abnormalities revealed by R-banding karyotypic analysis were confirmed with interphase and metaphase fluorescence in situ hybridization (FISH), chromosome painting, and M-FISH. [Copyright &y& Elsevier]

Here we report a rare chromosomal translocation, t(12;22)(p13;q11), which was detected in a 53-year-old female patient diagnosed as having minimally differentiated acute myeloid leukemia (AML-M0) according to the French-American-British classification criteria. Chromosome painting analysis with probes for chromosomes 12 and 22 confirmed the result of the conventional cytogenetic analysis. Reverse transcriptase polymerase chain reaction revealed the TEL-MN1 fusion transcript. Interestingly, she presented primary multidrug resistance and did not respond to several kinds of chemotherapy regimens. Moreover, she could not achieve remission after two doses of monotherapy with Mylotarg. Flow cytometry analysis detected high levels of expression of P-glycoprotein, multidrug-resistant-related protein, lung-related protein, and glutathione S-transferase π in this case at presentation. As far as we know, this is the first report of t(12;22)(p13;q11) translocation involving TEL and MN1 genes in an AML-M0 patient. Copyright © 2007 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

A rare chromosomal translocation, (11;20)(p15;q11), was detected in a 29-year-old male patient diagnosed with acute monocytic leukemia (AMoL) according to the French–American–British classification criteria. Whole chromosome painting analysis with paints for chromosomes 11 and 20 confirmed the result of conventional cytogenetic analysis. Reverse transcriptase polymerase chain reaction revealed the NUP98-TOP1 fusion transcript. To our knowledge, this is the second report of the translocation involving NUP98 and TOP1 genes in AMoL. On reviewing the literature, we suggest that t(11;20)(p15;q11) is associated with myelocytic disorders rather than lymphocytic proliferative diseases. [Copyright &y& Elsevier]

Discusses the case of a 47-year-old woman with a variant form of t(8;21) translocation in acute myeloblastic leukemia (AML) patients. Karyotype; Detection of AML1/ETO chimeric fusion gene; Morphologic features of the patient; Localization of chromosome translocations.

Abstract: Acute promyelocytic leukemia (APL) is characterized by the presence of a chromosomal rearrangement involving retinoic acid receptor alpha (RARα) gene generating the X-RARα fusion. We describe here a unique RARα gene rearrangement in a patient with M3r subtype of APL. Conventional cytogenetic analysis revealed Y-chromosome loss as the sole karyotypic anomaly. No X-RARα fusion was detected by fluorescence in situ hybridization (FISH) using PML/RARα dual-color dual-fusion translocation probe set, or RARα dual-color break apart rearrangement probe or reverse-transcription polymerase chain reaction (RT-PCR). However, FISH using RARα dual-color break apart rearrangement probe showed a deletion of the entire 3′-end of one allele of RARα gene. To our knowledge, this is the first documented APL with 3′RARα submicroscopic deletion which is not associated with X-RARα fusion. The molecular consequences of this anomaly remain to be elucidated. [Copyright &y& Elsevier]