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Chromosome translocation

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https://www.readbyqxmd.com/read/28527402/a-rare-e13a3-b2a3-bcr-abl1-fusion-transcript-with-normal-karyotype-in-chronic-myeloid-leukemia-the-challenges-in-diagnosis-and-monitoring-minimal-residual-disease-mrd
#1
M-H Duan, H Li, H Cai
Patients with chronic myeloid leukemia (CML) have a t (9;22)(q34;q11.2) or variant translocation that results in a BCR-ABL1 fusion gene. For many years, conventional karyotyping has been used as the standard diagnostic tool for t (9;22) (q34;q11.2). However, it has several limitations that may lead to failure for detecting BCR-ABL1 gene rearrangements in around 5% of all CML patients. Although reverse transcription polymerase chain reaction (RT-PCR) has evolved as a sensitive method for detecting BCR-ABL1 translocation, this method fail to detect certain BCR-ABL1 fusion transcript type, such as e13a3 (also known as b2a3), as a result of many commercially available and laboratory-developed primer sets...
May 12, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28522325/generation-of-chromosomal-translocations-that-lead-to-conditional-fusion-protein-expression-using-crispr-cas9-and-homology-directed-repair
#2
Fabio Vanoli, Maria Jasin
Recurrent chromosomal translocations often lead to expression of fusion proteins associated with oncogenic transformation. To study translocations and downstream events, genome editing techniques have been developed to generate chromosomal translocations through non-homologous end joining of DNA double-strand breaks introduced at the two participating endogenous loci. However, the frequencies at which these events occur is usually too low to efficiently clone cells carrying the translocation. This article provides a detailed method using CRISPR-Cas9 technology and homology-directed repair to efficiently isolate cells harboring a chromosomal translocation...
May 15, 2017: Methods: a Companion to Methods in Enzymology
https://www.readbyqxmd.com/read/28521466/extranodal-marginal-zone-lymphoma-of-the-uterine-cervix-with-concomitant-copy-number-gains-of-the-malt1-and-bcl2-genes-a-case-report
#3
Tomoko Takimoto, Saori Maegawa, Hiroshi Tatsumi, Hisao Nagoshi, Yoshiaki Chinen, Yuji Shimura, Tsutomu Kobayashi, Shigeo Horiike, Shigeo Nakamura, Jo Kitawaki, Junya Kuroda, Masafumi Taniwaki
Extranodal marginal zone lymphoma (EMZL) of mucosa-associated lymphoid tissue (MALT) of the uterus is rare, and the etiology, pathophysiology and cytogenetic features remain unknown at present. The present study reports a case of a 71-year-old female with EMZL of the uterine cervix that was 80 mm in diameter and invaded directly into the rectal serosa. Complete remission was successfully induced by 6 courses of immunochemotherapy with rituximab plus cyclophosphamide, doxorubicin, vincristine and prednisolone...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28521421/an-unusual-translocation-t-1-11-q21-q23-in-a-case-of-chronic-myeloid-leukemia-with-a-cryptic-philadelphia-chromosome
#4
Leandro Germán Gutiérrez, María Fernanda Noriega, Alejandro Laudicina, Mariana Quatrin, Raquel María Bengió, Irene Larripa
Chronic myeloid leukemia (CML) is characterized by the translocation t(9;22)(q34;q11) [Philadelphia (Ph) chromosome). Although not frequently occurring, additional chromosome abnormalities (ACAs) can be detected at diagnosis and a number have been associated with an adverse cytogenetic and molecular outcome. The present study reports a case of CML presenting with the translocation t(1;11)(q21;q23) and a cryptic Ph chromosome. The presence of ACAs could generate greater genetic instability, promoting the emergence of further alterations...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28521413/chromosome-t-7-11-p15-p15-translocation-in-acute-myeloid-leukemia-coexisting-with-multilineage-dyspoiesis-and-mutations-in-nras-and-wt1-a-case-report-and-literature-review
#5
Jingke Yang, Xiaodong Lyu, Xinghu Zhu, Xiangguang Meng, Wenli Zuo, Hao Ai, Mei Deng
The chromosomal translocation t(7;11)(p15;p15) and the resulting nucleoporin 98-homeobox A9 (NUP98-HOXA9) gene fusion is rare but recurrent genetic abnormity in acute myeloid leukemia (AML). The present study describes a case of AML plus maturation (-M2) with multilineage dyspoiesis in a 30-year-old male in whom a 46,XY,t(7;11)(p15;p15) karyotype was detected through chromosome analysis. Subsequent molecular and sequencing analysis demonstrated a NUP98-HOXA9 fusion gene with a type I fusion between NUP98 exon 12 and HOXA9 exon 1b, and mutations in neuroblastoma V-Ras oncogene homolog and Wilms tumor 1...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28520797/cytogenetic-studies-on-populations-of-camponotus-rufipes-fabricius-1775-and-camponotus-renggeri-emery-1894-formicidae-formicinae
#6
Hilton Jeferson Alves Cardoso de Aguiar, Luísa Antônia Campos Barros, Danúbia Rodrigues Alves, Cléa Dos Santos Ferreira Mariano, Jacques Hubert Charles Delabie, Silvia das Graças Pompolo
Two valid ant species, Camponotus rufipes and Camponotus renggeri, have recently been the subject of a broad discussion with reference to taxa synonymization. Both species are quite common among the Neotropical myrmecofauna and share some unique traits, such as the shape of the scape and the pilosity patterns of the tibiae and scapes. A single morphological trait can help distinguish these species; however, only a combination of different approaches can enlighten our view of the complex phylogenetic relationships prevailing in the different populations of these two taxa...
2017: PloS One
https://www.readbyqxmd.com/read/28515100/detection-of-chromosomal-translocation-in-hematologic-malignancies-by-a-novel-dna-based-looped-ligation-assay-lola
#7
Shuko Harada, Emily Sizzle, Ming-Tseh Lin, Christopher D Gocke
BACKGROUND: Disease-defining chromosomal translocations are seen in various neoplasms, especially in lymphomas and leukemias. Translocation detection at the DNA level is often complicated by chromosomal breakpoints that are distributed over very large regions. We have developed a ligation-based assay [the looped ligation assay (LOLA)] to detect translocations from diseases with multiple widely spaced breakpoint hot spots. METHODS: Oligonucleotide sets that probe breakpoints of IGH-BCL2 (immunoglobulin heavy-apoptosis regulator) in follicular lymphoma (FL), MYC-IGH (MYC proto-oncogene, bHLH transcription factor- immunoglobulin heavy) in Burkitt lymphoma (BL) and BCR-ABL1 (RhoGEF and GTPase activating protein-ABL proto-oncogene 1, non-receptor tyrosine kinase) in chronic myelogenous leukemia (CML) were designed...
May 17, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28514774/demonstration-of-5-methylcytosine-rich-dna-sequences-in-chiroptera
#8
Michael Schmid, Claus Steinlein, Christian Lomb, Marianne Volleth
5-Methylcytosine-rich heterochromatic regions were demonstrated in metaphase chromosomes of 5 species of Chiroptera by indirect immunofluorescence using a monoclonal anti-5-methylcytosine antibody. These species belong to 4 genera and 2 families and are characterized by divergent karyotypes. One species (Glauconycteris beatrix) has an extremely low diploid chromosome number of 2n = 22 with only meta- to submetacentric elements and remarkably large amounts of constitutive heterochromatin located in the centromeric and pericentromeric regions of all chromosome pairs...
May 18, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28512242/a-systematic-analysis-of-oncogenic-gene-fusions-in-primary-colon-cancer
#9
Wigard P Kloosterman, Robert R J Coebergh van den Braak, Mark Pieterse, Markus J van Roosmalen, Anieta M Sieuwerts, Christina Stangl, Ronne Brunekreef, Zarina S Lalmahomed, Salo Ooft, Anne van Galen, Marcel Smid, Armel Lefebvre, Fried Zwartkruis, John W M Martens, John A Foekens, Katharina Biermann, Marco J Koudijs, Jan N M IJzermans, Emile E Voest
Genomic rearrangements that give rise to oncogenic gene fusions can offer actionable targets for cancer therapy. Here we present a systematic analysis of oncogenic gene fusions among a clinically well-characterized, prospectively collected set of 278 primary colon cancers spanning diverse tumor stages and clinical outcomes. Gene fusions and somatic genetic variations were identified in fresh frozen clinical specimens by Illumina RNA-sequencing, the STAR fusion gene detection pipeline, and GATK RNA-seq variant calling...
May 16, 2017: Cancer Research
https://www.readbyqxmd.com/read/28511421/surgical-outcome-of-epicanthus-and-telecanthus-correction-by-double-z-plasty-and-trans-nasal-fixation-with-prolene-suture-in-blepharophimosis-syndrome
#10
Salil Kumar Mandal, Aparna Mandal, James Christian Fleming, Tara Goecks, Andrew Meador, Brian T Fowler
INTRODUCTION: Blepharophimosis Syndrome (BPES) is a complex and rare disease characterized by epicanthus inversus, telecanthus, lateral ectropion, narrowed or shortened inter-palpebral fissure distance and ptosis. It is mostly bilateral and may or may not be symmetrical. It is typically inherited as an autosomal dominant trait. In sporadic cases, the disease may occur without a prior family history as a genetic mutation from a deletion or translocation of the FOXL2 gene, which maps to chromosome 3q23...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28510806/role-of-core-needle-biopsy-in-primary-breast-lymphoma
#11
Giulia Bicchierai, Luigi Rigacci, Vittorio Miele, Icro Meattini, Diego De Benedetto, Valeria Selvi, Simonetta Bianchi, Lorenzo Livi, Jacopo Nori
Primary breast lymphoma (PBL) may mimic carcinoma clinically and also mammographic and ecographic distinction is subtle. Despite its rarity, incidence of PBLs has increased over the last four decades and continues to increase for younger women and for some subtypes, and for this reason it is increasingly important to achieve a preoperative pathological diagnosis using core needle biopsy (CNB) or fine-needle aspiration cytology (FNA). The aim of this retrospective study was to report our single-center experience in CNBs performed for histological diagnosis of PBL compared to FNA...
May 16, 2017: La Radiologia Medica
https://www.readbyqxmd.com/read/28510278/tfg-met-fusion-in-an-infantile-spindle-cell-sarcoma-with-neural-features
#12
Uta Flucke, Max M van Noesel, Marc Wijnen, Lei Zhang, Chun-Liang Chen, Yun-Shao Sung, Cristina R Antonescu
An increasing number of congenital and infantile sarcomas displaying a primitive, monomorphic spindle cell phenotype have been characterized to harbor recurrent gene fusions, including infantile fibrosarcoma and congenital spindle cell rhabdomyosarcoma. Here we report an unusual spindle cell sarcoma presenting as a large and infiltrative pelvic soft tissue mass in a 4-month-old girl, which revealed a novel TFG-MET gene fusion by whole transcriptome RNA sequencing. The tumor resembled the morphology of an infantile fibrosarcoma with both fascicular and patternless growth, however, it expressed strong S100 protein immunoreactivity, while lacking SOX10 staining and retaining H3K27me3 expression...
May 16, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28499755/biological-characteristics-and-karyotiping-of-a-new-isolation-method-for-human-adipose-mesenchymal-stem-cells-in-vitro
#13
Jun Li, Haisen Huang, Ximing Xu
OBJECTIVE: A new method was presented to prepare clinical-grade human adipose-derived stromal stem cells (ASCs) and its safety in vitro, such as biological characteristics and genetic features alteration were investigated. METHODS: The morphology of the ASCs which were cultured in vitro using serum-free medium was observed. Cell cycle and CD markers profile were tested by flow cytometry, while karyotype was analyzed by the chromosome G-banding technology. Growth factors expression was tested by ELISA and tumor-related genes were analyzed by the real-time PCR, respectively...
April 24, 2017: Tissue & Cell
https://www.readbyqxmd.com/read/28498454/identification-of-setd2-nf1-fusion-gene-in-a-pediatric-spindle-cell-tumor-with-the-chromosomal-translocation-t-3-17-p21-q12
#14
Ioannis Panagopoulos, Ludmila Gorunova, Ingvild Lobmaier, Bodil Bjerkehagen, Sverre Heim
Spindle cell tumors are clinically heterogeneous but morphologically similar neoplasms. The term refers to the tumor cells' long and slender microscopic appearance. Distinct subgroups of spindle cell tumors are characterized by chromosomal translocations and also fusion genes. Other spindle cell tumors exist that have not yet been found to have characteristic, let alone pathognomonic, genetic or pathogenetic features. Continuous examination of spindle cell tumors is likely to reveal other subgroups that may, in the future, be seen to correspond to meaningful clinical differences and may even be therapeutically decisive...
May 4, 2017: Oncology Reports
https://www.readbyqxmd.com/read/28497898/additional-cytogenetic-abnormalities-and-variant-t-9-22-at-the-diagnosis-of-childhood-chronic-myeloid-leukemia-the-experience-of-the-international-registry-for-chronic-myeloid-leukemia-in-children-and-adolescents
#15
Frédéric Millot, Christelle Dupraz, Joelle Guilhot, Meinolf Suttorp, Françoise Brizard, Thierry Leblanc, Adalet Meral Güneş, Petr Sedlacek, Evelyne De Bont, Chi Kong Li, Krzysztof Kalwak, Birgitte Lausen, Srdjana Culic, Michael Dworzak, Emilia Kaiserova, Barbara De Moerloose, Farah Roula, Andrea Biondi, André Baruchel, François Guilhot
BACKGROUND: In the adult population with newly diagnosed chronic myeloid leukemia (CML), variant translocations are usually not considered to be impairing the prognosis, whereas some additional cytogenetic abnormalities (ACAs) are associated with a negative impact on survival. Because of the rarity of CML in the pediatric population, such abnormalities have not been investigated in a large group of children with CML. METHODS: The prognostic relevance of variant t(9;22) and ACAs at diagnosis was assessed in 301 children with CML in the chronic phase who were enrolled in the International Registry for Chronic Myeloid Leukemia in Children and Adolescents...
May 12, 2017: Cancer
https://www.readbyqxmd.com/read/28497848/isolation-of-subtelomeric-sequences-of-porcine-chromosomes-for-translocation-screening-reveals-errors-in-the-pig-genome-assembly
#16
R E O'Connor, G Fonseka, R Frodsham, A L Archibald, M Lawrie, G A Walling, D K Griffin
Balanced chromosomal aberrations have been shown to affect fertility in most species studied, often leading to hypoprolificacy (reduced litter size) in domestic animals such as pigs. With an increasing emphasis in modern food production on the use of a small population of high quality males for artificial insemination, the potential economic and environmental costs of hypoprolific boars, bulls, rams etc. are considerable. There is therefore a need for novel tools to facilitate rapid, cost-effective chromosome translocation screening...
May 12, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28496950/development-of-flow-cytometry-fluorescent-in-situ-hybridization-flow-fish-method-for-detection-of-pml-rara-chromosomal-translocation-in-acute-promyelocytic-leukemia-cell-line
#17
Fatemeh Zahedipour, Reza Ranjbaran, Abbas Behzad Behbahani, Khalil Tavakol Afshari, Mohammad Ali Okhovat, Gholamhossein Tamadon, Sedigheh Sharifzadeh
BACKGROUND: Acute Promyelocytic Leukemia (APL) is a subclass of acute myeloid leukemia. The chromosomal aberration in 95% of APL cases is t(15; 17) (q22; q21), which prevents cell differentiation. Characterization of the underlying molecular lesion is valuable in determining optimal treatment strategy. The goal of this study was to develop a new and powerful Flow- FISH technique to detect the long isoform (L) of PML-RARa fusion transcript in NB4 cell line. METHODS: To achieve the best condition for fixation, two different fixatives including 2% paraformaldehyde and 75% ethanol were used...
April 2017: Avicenna Journal of Medical Biotechnology
https://www.readbyqxmd.com/read/28495751/male-sex-in-houseflies-is-determined-by-mdmd-a-paralog-of-the-generic-splice-factor-gene-cwc22
#18
Akash Sharma, Svenia D Heinze, Yanli Wu, Tea Kohlbrenner, Ian Morilla, Claudia Brunner, Ernst A Wimmer, Louis van de Zande, Mark D Robinson, Leo W Beukeboom, Daniel Bopp
Across species, animals have diverse sex determination pathways, each consisting of a hierarchical cascade of genes and its associated regulatory mechanism. Houseflies have a distinctive polymorphic sex determination system in which a dominant male determiner, the M-factor, can reside on any of the chromosomes. We identified a gene, Musca domesticamale determiner (Mdmd), as the M-factor. Mdmd originated from a duplication of the spliceosomal factor gene CWC22 (nucampholin). Targeted Mdmd disruption results in complete sex reversal to fertile females because of a shift from male to female expression of the downstream genes transformer and doublesex The presence of Mdmd on different chromosomes indicates that Mdmd translocated to different genomic sites...
May 12, 2017: Science
https://www.readbyqxmd.com/read/28494941/efficient-recreation-of-t-11-22-ewsr1-fli1-in-human-stem-cells-using%C3%A2-crispr-cas9
#19
Raul Torres-Ruiz, Marta Martinez-Lage, Maria C Martin, Aida Garcia, Clara Bueno, Julio Castaño, Juan C Ramirez, Pablo Menendez, Juan C Cigudosa, Sandra Rodriguez-Perales
Efficient methodologies for recreating cancer-associated chromosome translocations are in high demand as tools for investigating how such events initiate cancer. The CRISPR/Cas9 system has been used to reconstruct the genetics of these complex rearrangements at native loci while maintaining the architecture and regulatory elements. However, the CRISPR system remains inefficient in human stem cells. Here, we compared three strategies aimed at enhancing the efficiency of the CRISPR-mediated t(11;22) translocation in human stem cells, including mesenchymal and induced pluripotent stem cells: (1) using end-joining DNA processing factors involved in repair mechanisms, or (2) ssODNs to guide the ligation of the double-strand break ends generated by CRISPR/Cas9; and (3) all-in-one plasmid or ribonucleoprotein complex-based approaches...
May 9, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28494439/centromere-repositioning-in-cattle-bos-taurus-chromosome-17
#20
Lisa De Lorenzi, Alessandra Iannuzzi, Elena Rossi, Stefania Bonacina, Pietro Parma
Eukaryotic organisms have developed a structure, called centromere, able to preserve the integrity of the genome during cell division. A young bull from the Marchigiana breed, with a normal external phenotype, underwent routine cytogenetic analysis to enter the reproduction center. All metaphases analyzed showed an unusual biarmed chromosome of medium size despite a diploid set of chromosomes (2n = 60,XY). FISH analysis excluded a pericentric inversion or a reciprocal translocation, but highlighted a repositioning of the centromere in BTA17...
May 12, 2017: Cytogenetic and Genome Research
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