34,196 results match your criteria gene rearrangement

Synovial sarcoma of the stomach: a case report and a systematic review of literature.

Clin J Gastroenterol 2021 Apr 12. Epub 2021 Apr 12.

Department of Comprehensive Pathology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.

Worldwide, 5-10% of soft tissue sarcoma cases in adults have been attributed to synovial sarcoma. It is often reported to occur near the joints of the arm, neck, and leg but rarely in the gastrointestinal tract. In this study, we report a case of synovial sarcoma arising in the stomach of a 59-year-old woman. Read More

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Strategy for generation of replication-competent recombinant rotaviruses expressing multiple foreign genes.

J Gen Virol 2021 Apr;102(4)

Department of Virology and Parasitology, Fujita Health University School of Medicine, Toyoake, Aichi 470-1192, Japan.

With the recent establishment of robust reverse genetics systems for rotavirus, rotavirus is being developed as a vector to express foreign genes. However, insertion of larger sequences such as those encoding multiple foreign genes into the rotavirus genome has been challenging because the virus segments are small. In this paper, we attempted to insert multiple foreign genes into a single gene segment of rotavirus to determine whether it can efficiently express multiple exogenous genes from its genome. Read More

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Dasatinib in the Management of Pediatric Patients With Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia.

Front Oncol 2021 25;11:632231. Epub 2021 Mar 25.

Hematology Unit, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, Meldola, Italy.

Acute leukemia is the most common cancer in childhood; in particular, acute lymphoblastic leukemia (ALL) represents roughly up to 80% of all cases of acute leukemias in children. Survival of children with ALL has dramatically improved over the last few decades, and is now over 90% (versus 40% of adult patients) in developed countries, except for in infants (i.e. Read More

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Genomic profiling of multiple tissues in two patients with multiple endocrine neoplasia type 1.

Biomed Res 2021 ;42(2):89-94

Shizuoka Cancer Center.

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant tumor syndrome. This hereditary cancer is caused by germline variants in MEN1. Two patients with MEN1 were identified via whole exome sequencing and gene expression profile analysis, conducted for 5,063 patients with various types of cancers. Read More

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January 2021

Profiling of somatic mutations and fusion genes in acute myeloid leukemia patients with FLT3-ITD or FLT3-TKD mutation at diagnosis reveals distinct evolutionary patterns.

Exp Hematol Oncol 2021 Apr 9;10(1):27. Epub 2021 Apr 9.

Department of Hematology, Chinese PLA General Hospital, 28 Fuxing Road, Beijing, 100853, China.

Background: The receptor tyrosine kinase FLT3 with internal tandem duplications within the juxtamembrane domain (FLT3-ITD) is a poor prognostic factor; however, the prognostic significance of missense mutation in the tyrosine kinase domain (FLT3-TKD) is controversial. Furthermore, the accompanying mutations and fusion genes with FLT3 mutations are unclear in acute myeloid leukemia (AML).

Methods: We investigated FLT3 mutations and their correlation with other gene mutations and gene fusions through two RNA-seq based next-generation sequencing (NGS) method and prognostic impact in 207 de novo AML patients. Read More

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A rare KIF5B-ALK fusion variant in a lung adenocarcinoma patient who responded to crizotinib and acquired the ALK L1196M mutation after resistance: a case report.

Ann Palliat Med 2021 Mar 22. Epub 2021 Mar 22.

Department of Respiratory and Critical Care Medicine, West China Hospital, Sichuan University, Chengdu, China.

An increasing number of anaplastic lymphoma kinase (ALK) gene fusion variants have been reported with the popularity of next-generation sequencing (NGS), such as striatin gene (STRN)-ALK, EMAP like 4 (EML4)-ALK and S1 RNA binding domain 1 (SRBD1)-ALK. The clinical outcomes of nonsmall cell lung cancer (NSCLC) patients improved dramatically with the treatment of tyrosine kinase inhibitors (TKIs), but responses to ALK-TKIs differ even for the same fusion variants with different breakpoints. The clinical effectiveness of ALK-TKIs on a new fusion variant needs to be evaluated. Read More

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A [6+4]-cycloaddition adduct is the biosynthetic intermediate in streptoseomycin biosynthesis.

Nat Commun 2021 04 7;12(1):2092. Epub 2021 Apr 7.

State Key Laboratory of Pharmaceutical Biotechnology, Institute of Functional Biomolecules, Chemistry and Biomedicine Innovation Center (ChemBIC), School of Life Sciences, Nanjing University, Nanjing, China.

Streptoseomycin (STM, 1) is a bacterial macrolactone that has a unique 5/14/10/6/6-pentacyclic ring with an ether bridge. We have previously identified the biosynthetic gene cluster for 1 and characterized StmD as [6 + 4]- and [4 + 2]-bispericyclase that catalyze a reaction leading to both 6/10/6- and 10/6/6-tricyclic adducts (6 and 7). The remaining steps, especially how to install and stabilize the required 10/6/6-tricyclic core for downstream modifications, remain unknown. Read More

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Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma.

Acta Neuropathol Commun 2021 Apr 7;9(1):61. Epub 2021 Apr 7.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.

Retinoblastoma is a childhood cancer of the retina involving germline or somatic alterations of the RB Transcriptional Corepressor 1 gene, RB1. Rare cases of sellar-suprasellar region retinoblastoma without evidence of ocular or pineal tumors have been described. A nine-month-old male presented with a sellar-suprasellar region mass. Read More

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Localized ALK-positive histiocytosis in a Chinese woman: report of a case in the lung with a novel EML4-ALK rearrangement.

Virchows Arch 2021 Apr 7. Epub 2021 Apr 7.

Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of Pathology, Peking University Cancer Hospital and Institute, No. 52 Fucheng Road, Haidian District, Beijing, 100142, China.

ALK-positive histiocytosis (APH) is a newly defined entity with specific histological features and a highly recurrent KIF5B-ALK gene fusion. APH is characterized by clonal proliferation of histiocytes and can present as either systemic or localized. It was first described in infants and then expanded to older children and adults. Read More

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Novel gene rearrangement in the mitochondrial genome of Siliqua minima (Bivalvia, Adapedonta) and phylogenetic implications for Imparidentia.

PLoS One 2021 6;16(4):e0249446. Epub 2021 Apr 6.

National Engineering Research Center for Marine Aquaculture, Zhejiang Ocean University, Zhoushan, China.

Siliqua minima (Gmelin, 1791) is an important economic shellfish species belonging to the family Pharidae. To date, the complete mitochondrial genome of only one species in this family (Sinonovacula constricta) has been sequenced. Research on the Pharidae family is very limited; to improve the evolution of this bivalve family, we sequenced the complete mitochondrial genome of S. Read More

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Genome Mining-Driven Discovery of 5-Methylorsellinate-Derived Meroterpenoids from .

Org Lett 2021 Apr 6. Epub 2021 Apr 6.

Department of Chemistry, City University of Hong Kong, Tat Chee Avenue, Kowloon, Hong Kong SAR, China.

Heterologous expression of a cryptic gene cluster in the fungus CBS 116.56 led to the discovery of four new meroterpenoids, funiculolides A-D (-), derived from the aromatic polyketide 5-methylorsellinic acid (5-MOA). Intriguingly, funiculolide D (), the apparent end product of the pathway, harbors an unusual spirocyclopentanone moiety, which is synthesized by the oxidative rearrangement catalyzed by the ferrous iron and α-ketoglutarate-dependent dioxygenase FncG. Read More

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The Prognostic Significance of Fusions in Adult Ph-Negative B-Cell Precursor Acute Lymphoblastic Leukemia: A Comprehensive Cohort Study From a Single Chinese Center.

Front Oncol 2021 17;11:632532. Epub 2021 Mar 17.

Peking University People's Hospital, Peking University Institute of Hematology, Beijing Key Laboratory of Hematopoietic Stem Cell Transplantation, National Clinical Research Center for Hematologic Disease, Beijing, China.

Novel recurrent fusion gene types such as zinc finger protein 384 () fusions have been identified in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) with the application of next-generation sequencing technologies. However, the comprehensive large-scale clinical cohort study for clarifying their prognostic significance remains scarce to date. A total of 242 consecutive adult Ph-negative BCP-ALL patients treated in our institute were retrospectively screened fusions at diagnosis by multiplex real time quantitative PCR. Read More

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[Clinical Features and Prognosis of Acute Lymphoblastic Leukemia Children with P2RY8-CRLF2 Gene Rearrangement].

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2021 Apr;29(2):311-315

Department of Pediatric Hematology, Fujian Institute of Hematology, Fujian Provincial Key Laboratory of Hematology, Fujian Medical University Union Hospital, Fuzhou 350001,E-mail:

Objective: To investigate the clinical features and prognostic factors of acute lymphoblastic leukemia (ALL) children with P2RY8-CRLF2 gene rearrangement.

Methods: A total of 108 children with B-cell ALL (B-ALL) were diagnosed and systematically treated according to Chinese Children's Leukemia Group (CCLG) -ALL 2008 in our hospital from January 2016 to December 2016. The 108 patients were divided into two groups according to the result of mutiplex polymerase chain reaction: group with P2RY8-CRLF2 gene rearrangement and group without P2RY8-CRLF2 gene rearrangement. Read More

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Genome sequencing and comparative genome analysis of 6 hypervirulent Klebsiella pneumoniae strains isolated in China.

Arch Microbiol 2021 Apr 3. Epub 2021 Apr 3.

School of Public Health and Management, Chongqing Medical University, NO.1 Yixueyuan Road, Yuzhong District, Chongqing, 400016, China.

Hypervirulent Klebsiella pneumoniae (hvKP) has been increasingly reported over the past three decades and causes severe infections. To increase our understanding of hvKP at the genome level, genome sequencing and comparative genome analysis were performed on 6 hvKPs. The whole genome DNA from 6 hvKPs with different capsular serotypes isolated in China was extracted. Read More

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DNA Double-Strand Breaks Affect Chromosomal Rearrangements during Methotrexate-Mediated Gene Amplification in Chinese Hamster Ovary Cells.

Pharmaceutics 2021 Mar 12;13(3). Epub 2021 Mar 12.

Department of Chemical and Biomolecular Engineering, University of Delaware, Newark, DE 19716, USA.

Methotrexate (MTX)-mediated gene amplification has been widely used in Chinese hamster ovary (CHO) cells for the biomanufacturing of therapeutic proteins. Although many studies have reported chromosomal instability and extensive chromosomal rearrangements in MTX-mediated gene-amplified cells, which may be associated with cell line instability issues, the mechanisms of chromosomal rearrangement formation remain poorly understood. We tested the impact of DNA double-strand breaks (DSBs) on chromosomal rearrangements using bleomycin, a DSB-inducing reagent. Read More

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Consensus Recommendations for MRD Testing in Adult B-Cell Acute Lymphoblastic Leukemia in Ontario.

Curr Oncol 2021 Mar 30;28(2):1376-1387. Epub 2021 Mar 30.

Princess Margaret Cancer Centre, Division of Medical Oncology and Hematology, Toronto, ON M5G 2M9, Canada.

Measurable (minimal) residual disease (MRD) is an established, key prognostic factor in adult B-cell acute lymphoblastic leukemia (B-ALL), and testing for MRD is known to be an important tool to help guide treatment decisions. The clinical value of MRD testing depends on the accuracy and reliability of results. Currently, there are no Canadian provincial or national guidelines for MRD testing in adult B-ALL, and consistent with the absence of such guidelines, there is no uniform Ontario MRD testing consensus. Read More

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High-Grade B-Cell Lymphoma (HGBL) with and and/or Rearrangements Is Predominantly BCL6-Rearranged and BCL6-Expressing in Taiwan.

Cancers (Basel) 2021 Mar 31;13(7). Epub 2021 Mar 31.

Division of Hematology and Oncology, Department of Internal Medicine, Taipei Medical University-Shuang Ho Hospital, New Taipei City 235, Taiwan.

This study investigated the epidemiological and clinical peculiarities of and rearrangement in patients with high grade B-cell lymphoma (HGBL) from Taiwan, compared with data from Western countries. Two hundred and eighty-two DLBCL cases from Taipei Medical University-affiliated hospitals ( = 179) and Tri-Service General Hospital ( = 103) were enrolled for this study. From the 282, 47 (16. Read More

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Single-Cell Sequencing Confirms Transcripts and VDJ Rearrangements of Immunoglobulin Genes in Human Podocytes.

Genes (Basel) 2021 Mar 25;12(4). Epub 2021 Mar 25.

Department of Nephrology, Peking University Third Hospital, Beijing 100191, China.

Most glomerular diseases are associated with inflammation caused by deposited pathogenic immunoglobulins (Igs), which are believed to be produced by B cells. However, our previous study indicated that the human podocyte cell line can produce IgG. In this study, we aimed to confirm the transcripts and characterize the repertoires of Igs in primary podocytes at single cell level. Read More

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YAP and TAZ Mediators at the Crossroad between Metabolic and Cellular Reprogramming.

Metabolites 2021 Mar 8;11(3). Epub 2021 Mar 8.

Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 40, 80138 Napoli, Italy.

Cell reprogramming can either refer to a direct conversion of a specialized cell into another or to a reversal of a somatic cell into an induced pluripotent stem cell (iPSC). It implies a peculiar modification of the epigenetic asset and gene regulatory networks needed for a new cell, to better fit the new phenotype of the incoming cell type. Cellular reprogramming also implies a metabolic rearrangement, similar to that observed upon tumorigenesis, with a transition from oxidative phosphorylation to aerobic glycolysis. Read More

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Muscle Proteomic Profile before and after Enzyme Replacement Therapy in Late-Onset Pompe Disease.

Int J Mol Sci 2021 Mar 11;22(6). Epub 2021 Mar 11.

Department of Biomedical Sciences for Health, University of Milan, 20090 Milano, Italy.

Mutations in the acidic alpha-glucosidase (GAA) coding gene cause Pompe disease. Late-onset Pompe disease (LOPD) is characterized by progressive proximal and axial muscle weakness and atrophy, causing respiratory failure. Enzyme replacement therapy (ERT), based on recombinant human GAA infusions, is the only available treatment; however, the efficacy of ERT is variable. Read More

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A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.

Am J Med Genet A 2021 Apr 2. Epub 2021 Apr 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

Biallelic loss-of-function (LoF) of SLC13A5 (solute carrier family 13, member 5) induced deficiency in sodium/citrate transporter (NaCT) causes autosomal recessive developmental epileptic encephalopathy 25 with hypoplastic amelogenesis imperfecta (DEE25; MIM #615905). Many pathogenic SLC13A5 single nucleotide variants (SNVs) and small indels have been described; however, no cases with copy number variants (CNVs) have been sufficiently investigated. We describe a consanguineous Iraqi family harboring an 88. Read More

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The complete mitochondrial genome sequence of Wei, 1997 (Hymenoptera: Tenthredinidae) reveals a new gene order.

Mitochondrial DNA B Resour 2021 Mar 22;6(3):999-1000. Epub 2021 Mar 22.

College of Life Sciences, Jiangxi Normal University, Nanchang, Jiangxi, PR China.

The complete mitochondrial genome of Wei, 1997 was sequenced and assembled. The circular genome is 15,940 bp long, with an A + T content of 80.33%, 37 genes, and a 658-bp control region. Read More

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The mitochondrial genome of a parasitic wasp, Yang (Hymenoptera: Chalcidoidea: Eulophidae) and phylogenetic analysis.

Mitochondrial DNA B Resour 2021 Mar 15;6(3):872-874. Epub 2021 Mar 15.

Post-Entry Quarantine Station for Tropical Plant, Haikou Customs, Haikou, China.

Yang 1989 is a parasitic wasp and natural enemy of several lepidopteran pests during their pupal stage. In this study, we sequenced and analyzed the mitochondrial genome of , and obtained a complete DNA molecule that is 14,930 bp in size with 13 protein-coding genes (PCGs), two ribosomal RNA genes (rRNAs), and 22 transfer RNA genes (tRNAs) (GenBank accession number MW192646). All the 13 PCGs started with typical ATN (ATA, ATG, and ATT) and terminated with the stop codon TAA or TAG. Read More

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More Accurate Diagnosis of Vitreoretinal Lymphoma Using a Combination of Diagnostic Test Results: A Prospective Observational Study.

Ocul Immunol Inflamm 2021 Apr 1:1-7. Epub 2021 Apr 1.

Department of Ophthalmology, The University of Tokyo Hospital, Tokyo, Japan.

Purpose: To establish diagnostic criteria for vitreoretinal lymphoma (VRL) using cytology and laboratory tests from vitreous samples: interleukin (IL)-10/IL-6 ratio, immunoglobulin (Ig) H gene rearrangement, and clonal B-cells on flow cytometry.

Methods: Fifty-six patients with and 39 without VRL were included. We assessed the sensitivity and specificity of each test and those of diagnostic criteria based on combinations of these tests. Read More

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Mechanism of NanR gene repression and allosteric induction of bacterial sialic acid metabolism.

Nat Commun 2021 03 31;12(1):1988. Epub 2021 Mar 31.

Biomolecular Interaction Centre and School of Biological Sciences, University of Canterbury, Christchurch, New Zealand.

Bacteria respond to environmental changes by inducing transcription of some genes and repressing others. Sialic acids, which coat human cell surfaces, are a nutrient source for pathogenic and commensal bacteria. The Escherichia coli GntR-type transcriptional repressor, NanR, regulates sialic acid metabolism, but the mechanism is unclear. Read More

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Development of genomic resources for the genus (Cannabaceae) based on genome skimming data.

Plant Divers 2021 Feb 5;43(1):43-53. Epub 2020 Oct 5.

Laboratory of Systematic & Evolutionary Botany and Biodiversity, College of Life Sciences, Zhejiang University, Hangzhou, 310058, China.

is a Cannabaceae genus of 60-70 species of trees, or rarely shrubs, commonly known as hackberries. This woody genus consists of very valuable forest plants that provide important wildlife habitat for birds and mammals. Although previous studies have identified its phylogenetic position, interspecific relationships within remain unclear. Read More

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February 2021

Decoding the heterogeneous landscape in the development prostate cancer.

Oncol Lett 2021 May 15;21(5):376. Epub 2021 Mar 15.

Cancer Biology Research Group, National Institute of Cancerology, Bogota 110411, Colombia.

Prostate cancer (PCa) is characterized as being histologically and molecularly heterogeneous; however, this is not only incorrect among individuals, but also at the multiple foci level, which originates in the prostate gland itself. The reasons for such heterogeneity have not been fully elucidated; however, understanding these may be crucial in determining the course of the disease. PCa is characterized by a complex network of chromosomal rearrangements, which simultaneously deregulate multiple genes; this could explain the appearance of exclusive events associated with molecular subtypes, which have been extensively investigated to establish clinical management and the development of therapies targeted to this type of cancer. Read More

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Prevalence and Phenotypic Impact of Robertsonian Translocations.

Mol Syndromol 2021 Mar 17;12(1):1-11. Epub 2021 Feb 17.

Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

Robertsonian translocations (RTs) result from fusion of 2 acrocentric chromosomes (e.g., 13, 14, 15, 21, 22) and consequential losses of segments of the p arms containing 47S rDNA clusters and transcription factor binding sites. Read More

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A Case of Solid Variant of Adenoid Cystic Carcinoma from Trachea: A Case Report and Review of Literature.

Onco Targets Ther 2021 18;14:1997-2002. Epub 2021 Mar 18.

Department of Pathology, Shanghai General Hospital,Shanghai Jiao Tong University School of Medicine, Shanghai, 200080, People's Republic of China.

Introduction: Primary tracheal adenoid cystic carcinoma (ACC) is a rare and heterogeneous group of neoplasms arising from the respiratory tract. The solid variant of ACC is a histologically distinct subtype with an unfavorable clinical course. We report on a case of tracheal ACC with immunohistochemical and molecular analysis together with a review of the literature. Read More

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Transcribed germline-limited coding sequences in Oxytricha trifallax.

G3 (Bethesda) 2021 Mar 27. Epub 2021 Mar 27.

Department of Biochemistry and Molecular Biophysics, Columbia University, New York, NY 10032, USA.

The germline-soma divide is a fundamental distinction in developmental biology, and different genes are expressed in germline and somatic cells throughout metazoan life cycles. Ciliates, a group of microbial eukaryotes, exhibit germline-somatic nuclear dimorphism within a single cell with two different genomes. The ciliate Oxytricha trifallax undergoes massive RNA-guided DNA elimination and genome rearrangement to produce a new somatic macronucleus (MAC) from a copy of the germline micronucleus (MIC). Read More

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