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https://www.readbyqxmd.com/read/29093755/unique-amplification-of-bcr-abl1-gene-fusion-in-a-case-of-t-cell-acute-lymphoblastic-leukemia
#1
Rima Koka, Najeebah A Bade, Edward A Sausville, Yi Ning, Ying Zou
Background: ABL1 gene translocations can be seen in precursor T-acute lymphoblastic leukemia (T-ALL). The typical translocation partner is the NUP214 gene. BCR-ABL translocations are relatively rare in this entity. Furthermore, while there have been unique patterns of amplification noted among the NUP214-ABL fusion genes, there have been few such reports among cases with BCR-ABL fusion genes. Case presentation: Here we report a unique case of a 44-year old patient with T-ALL in which the blasts demonstrated a derivative chromosome 9 involving a 9;22 translocation and a dicentric Philadelphia chromosome 22 with a homogeneously staining region at the interface of the 9;22 translocation, leading to BCR-ABL1 gene amplification...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29080427/a-comparison-of-estimates-of-doses-to-radiotherapy-patients-obtained-with-the-dicentric-chromosome-analysis-and-the-%C3%AE-h2ax-assay-relevance-to-radiation-triage
#2
Bhavani Manivannan, Thayalan Kuppusamy, Srinivasan Venkatesan, Venkatachalam Perumal
The γ-H2AX assay was investigated as an alternative to the time-consuming dicentric chromosome assay (DCA). Radiation doses to 25 radiotherapy patients were estimated in parallel by DCA and the γ-H2AX assay. The γ-H2AX assay yielded doses in line with the calculated equivalent whole body doses in 92% of the patients, whereas the success rate of DCA was only 76%. The result shows that the γ-H2AX assay can be effectively used as a rapid and more precise alternative to DCA.
October 16, 2017: Applied Radiation and Isotopes
https://www.readbyqxmd.com/read/29040682/dose-response-curves-for-analyzing-of-dicentric-chromosomes-and-chromosome-translocations-following-doses-of-1000-mgy-or-less-based-on-irradiated-peripheral-blood-samples-from-five-healthy-individuals
#3
Y Abe, Mitsuaki A Yoshida, Kurumi Fujioka, Yumiko Kurosu, Risa Ujiie, Aki Yanagi, Naohiro Tsuyama, Tomisato Miura, Toshiya Inaba, Kenji Kamiya, Akira Sakai
In terms of biological dosimetry at the time of radiation exposure, the dicentric chromosome (Dic) assay (DCA) is the gold standard for assessing for the acute phase and chromosome translocation (Tr) analysis is the gold standard for assessing the chronic phase. It is desirable to have individual dose-response curves (DRCs) for each laboratory because the analysis criteria differ between laboratories. We constructed the DRCs for radiation dose estimation (with three methods) using peripheral blood (PB) samples from five healthy individuals...
October 13, 2017: Journal of Radiation Research
https://www.readbyqxmd.com/read/29032586/cohesion-and-centromere-activity-are-required-for-histone-h3-phosphorylation-in-maize
#4
Yang Liu, Handong Su, Yalin Liu, Jing Zhang, Qianhua Dong, James A Birchler, Fangpu Han
Haspin-mediated histone H3-threonine 3 phosphorylation (H3T3ph) promotes proper deposition of Aurora B at the inner centromere to ensure faithful chromosome segregation in metazoans. However, the function of H3T3ph remains relatively unexplored in plants. Here, we show that in maize (Zea mays L.) mitotic cells, H3T3ph is concentrated at pericentromeric and centromeric regions. Additional weak H3T3ph signals occur between cohered sister chromatids at prometaphase. Immunostaining on dicentric chromosomes reveals that an inactive centromere cannot maintain H3T3ph at metaphase, indicating that a functional centromere is required for H3T3 phosphorylation...
October 15, 2017: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/29026522/accurate-cytogenetic-biodosimetry-through-automated-dicentric-chromosome-curation-and-metaphase-cell-selection
#5
Jin Liu, Yanxin Li, Ruth Wilkins, Farrah Flegal, Joan H M Knoll, Peter K Rogan
Accurate digital image analysis of abnormal microscopic structures relies on high quality images and on minimizing the rates of false positive (FP) and negative objects in images. Cytogenetic biodosimetry detects dicentric chromosomes (DCs) that arise from exposure to ionizing radiation, and determines radiation dose received based on DC frequency. Improvements in automated DC recognition increase the accuracy of dose estimates by reclassifying FP DCs as monocentric chromosomes or chromosome fragments. We also present image segmentation methods to rank high quality digital metaphase images and eliminate suboptimal metaphase cells...
2017: F1000Research
https://www.readbyqxmd.com/read/28967092/dicentric-translocation-9-12-in-acute-lymphoblastic-leukemia-a-chromosomal-abnormality-with-an-excellent-prognosis
#6
Laura Illade, Victoria Fioravantti, Maitane Andion, Carmen Hernandez-Marques, Luis Madero, Alvaro Lassaletta
PURPOSE: Recurrent chromosomal abnormalities present in the leukemic cells of pediatric patients with acute lymphoblastic leukemia (ALL) often allow us to classify patients according to their prognosis, in order to establish further treatment. The dicentric translocation (9;12) consists of the rearrangement of the short arms of chromosomes 9 and 12 generating a dicentric chromosome (9;12). Patients with this alteration present a very good response to treatment and an excellent prognosis...
September 19, 2017: Tumori
https://www.readbyqxmd.com/read/28952879/exploring-the-link-between-radiation-exposure-and-multifocal-basal-cell-carcinomas-in-a-former-chernobyl-clean-up-worker-by-combining-different-molecular-biological-techniques
#7
Benjamin V Becker, Claus Richter, Reinhard Ullmann, Christina Beinke, Matthäus Majewski, Viktoria Exner, Guido Weisel, Michael Abend, Matthias Port
Thirty years after the Chernobyl nuclear power plant accident we report on a patient who was a clean-up worker, who subsequently developed multiple cutaneous basal cell carcinomas (BCCs). We used several methods to assess the biological long-term effects related to low-dose external and internal radiation exposure. Specifically, because BCC risk may be increased with ionizing radiation exposure, we endeavored to determine whether the multifocal BCCs were related to the patient's past clean-up work. We assessed cytogenetic changes using peripheral blood, and internal incorporation was measured with a whole-body counter...
November 2017: Radiation Research
https://www.readbyqxmd.com/read/28892030/expedited-radiation-biodosimetry-by-automated-dicentric-chromosome-identification-adci-and-dose-estimation
#8
Ben Shirley, Yanxin Li, Joan H M Knoll, Peter K Rogan
Biological radiation dose can be estimated from dicentric chromosome frequencies in metaphase cells. Performing these cytogenetic dicentric chromosome assays is traditionally a manual, labor-intensive process not well suited to handle the volume of samples which may require examination in the wake of a mass casualty event. Automated Dicentric Chromosome Identifier and Dose Estimator (ADCI) software automates this process by examining sets of metaphase images using machine learning-based image processing techniques...
September 4, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28863396/proximity-effects-in-chromosome-aberration-induction-by-low-let-ionizing-radiation
#9
John James Tello Cajiao, Mario Pietro Carante, Mario Antonio Bernal Rodriguez, Francesca Ballarini
Although chromosome aberrations are known to derive from distance-dependent mis-rejoining of chromosome fragments, evaluating whether a certain model describes such "proximity effects" better than another one is complicated by the fact that different approaches have often been tested under different conditions. Herein, a biophysical model ("BIANCA", i.e. BIophysical ANalysis of Cell death and chromosome Aberrations) was upgraded, implementing explicit chromosome-arm domains and two new models for the dependence of the rejoining probability on the fragment initial distance, r...
October 2017: DNA Repair
https://www.readbyqxmd.com/read/28843160/comparison-of-dicentric-dose-response-curves-of-6mv-linac-x-rays-and-60-co-%C3%AE-rays-for-biodosimetry-application
#10
A Arul Anantha Kumar, D Bakkiam, Swetha Sonwani, R Seenisamy, K Sivasubramanian, B Venkatraman
In vitro Dicentric (DC) dose response curves of 6MV X-rays (3Gy/min) and (60)Co γ-rays (0.63Gy/min) were generated and compared (intra-laboratory) to understand their similarities and differences. Human peripheral blood samples exposed to ten different doses (0, 0.05, 0.1, 0.25, 0.5, 1, 2, 3, 4 and 5Gy) of 6MV X-rays and (60)Co γ-rays were subjected to Dicentric Chromosome Assay (DCA) and dicentrics, excess acentric fragments (AF) and chromatid breaks (CB) were scored. Totally about 31,553 metaphase spreads were scored for the purpose...
November 2017: Applied Radiation and Isotopes
https://www.readbyqxmd.com/read/28840240/centromere-silencing-mechanisms
#11
Shannon M McNulty, Beth A Sullivan
Centromere function is essential for genome stability and chromosome inheritance. Typically, each chromosome has a single locus that consistently serves as the site of centromere formation and kinetochore assembly. Decades of research have defined the DNA sequence and protein components of functional centromeres, and the interdependencies of specific protein complexes for proper centromere assembly. Less is known about how centromeres are disassembled or functionally silenced. Centromere silencing, or inactivation, is particularly relevant in the cases of dicentric chromosomes that occur via genome rearrangements that place two centromeres on the same chromosome...
2017: Progress in Molecular and Subcellular Biology
https://www.readbyqxmd.com/read/28836280/molecular-characterisation-of-a-case-of-dicentric-y-presented-as-nonobstructive-azoospermia-with-testicular-early-maturation-arrest
#12
P Kumar, M Jain, A K Kalsi, A Halder
The dicentric Y chromosome is the most common cytogenetically visible structural abnormality of Y chromosome. The sites of break and fusion of dicentric Y are variable, but break and fusion at Yq12 (proximal to the pseudoautosomal region 2/PAR 2) is very rare. Dicentric Y chromosome is unstable during cell division and likely to generate chromosomal mosaicism. Here, we report a case of infertile male with nonmosaic 46,XY where chromosome Y was dicentric with break and fusion at Yq12 (proximal to PAR 2). Clinical presentation of the case was nonobstructive azoospermia due to early maturation arrest at the primary spermatocyte stage...
August 24, 2017: Andrologia
https://www.readbyqxmd.com/read/28607452/transmission-of-induced-chromosomal-aberrations-through-successive-mitotic-divisions-in-human-lymphocytes-after-in-vitro-and-%C3%AF-in%C3%AF-vivo-radiation
#13
Akram Kaddour, Bruno Colicchio, Diane Buron, Elie El Maalouf, Eric Laplagne, Claire Borie, Michelle Ricoul, Aude Lenain, William M Hempel, Luc Morat, Mustafa Al Jawhari, Corina Cuceu, Leonhard Heidingsfelder, Eric Jeandidier, Georges Deschênes, Alain Dieterlen, Michèle El May, Theodore Girinsky, Annelise Bennaceur-Griscelli, Patrice Carde, Laure Sabatier, Radhia M'kacher
The mechanisms behind the transmission of chromosomal aberrations (CA) remain unclear, despite a large body of work and major technological advances in chromosome identification. We reevaluated the transmission of CA to second- and third-division cells by telomere and centromere (TC) staining followed by M-FISH. We scored CA in lymphocytes of healthy donors after in vitro irradiation and those of cancer patients treated by radiation therapy more than 12 years before. Our data demonstrate, for the first time, that dicentric chromosomes (DCs) decreased by approximately 50% per division...
June 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28498391/hypospadias-in-a-male-infant-with-an-unusual-mosaic-45-x-46-x-psu-idic-y-p11-32-46-xy-and-haploinsufficiency-of-shox-a-case-report
#14
Yan-Mei Si, Yuan Dong, Wei Wang, Ke-Yan Qi, Xin Wang
A male newborn presented with hypospadias and differential testicular volumes. Short femur length was detected four times during pregnancy, at 23, 31, 32 and 33 weeks, by ultrasonographic examination. Chromosome analysis was performed on peripheral lymphocytes obtained from the infant and his parents. Fluorescent in situ hybridization (FISH), using sex determining region Y (SRY)/DXZ1 and DYZ3 probes, was performed to verify the deletion of the SRY gene (located on Yp11.3 region) and the activation of Y chromosomal centromeres...
July 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28494764/possible-benefits-of-tomato-juice-consumption-a-pilot-study-on-irradiated-human-lymphocytes-from-healthy-donors
#15
Ayumi Nakamura, Chieko Itaki, Ayako Saito, Toko Yonezawa, Koichi Aizawa, Ayumi Hirai, Hiroyuki Suganuma, Tomisato Miura, Yasushi Mariya, Siamak Haghdoost
BACKGROUND: Reactive oxygen species (ROS) mediate much of the DNA damage caused by ionizing radiation. Among carotenoids, lycopene and β-carotene, present in tomato juice, are known to be strong radical scavengers. The aim of the study was to investigate the effect of tomato juice intake on the levels of DNA damage and oxidative stress in human whole blood induced by in vitro exposure to X-rays. METHODS: Ten healthy adults were asked to drink 190 g of tomato juice, containing 17 mg lycopene and 0...
May 12, 2017: Nutrition Journal
https://www.readbyqxmd.com/read/28363014/chromosomal-aberrations-in-large-japanese-field-mice-apodemus-speciosus-captured-near-fukushima-dai-ichi-nuclear-power-plant
#16
Taiki Kawagoshi, Naoko Shiomi, Hiroyuki Takahashi, Yoshito Watanabe, Shoichi Fuma, Kazutaka Doi, Isao Kawaguchi, Masanari Aoki, Masahide Kubota, Yoshiaki Furuhata, Yusaku Shigemura, Masahiko Mizoguchi, Fumio Yamada, Morihiko Tomozawa, Shinsuke H Sakamoto, Satoshi Yoshida, Yoshihisa Kubota
Since the Fukushima Dai-ichi Nuclear Power Plant accident, radiation effects on nonhuman biota in the contaminated areas have been a major concern. Here, we analyzed the frequencies of chromosomal aberrations (translocations and dicentrics) in the splenic lymphocytes of large Japanese field mice (Apodemus speciosus) inhabiting Fukushima Prefecture. A. speciosus chromosomes 1, 2, and 5 were flow-sorted in order to develop A. speciosus chromosome-specific painting probes, and FISH (fluorescence in situ hybridization) was performed using these painting probes to detect the translocations and dicentrics...
April 18, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/28333343/centromere-destiny-in-dicentric-chromosomes-new-insights-from-the-evolution-of-human-chromosome-2-ancestral-centromeric-region
#17
Giorgia Chiatante, Giuliana Giannuzzi, Francesco Maria Calabrese, Evan E Eichler, Mario Ventura
Dicentric chromosomes are products of genomic rearrangements that place two centromeres on the same chromosome. Due to the presence of two primary constrictions, they are inherently unstable and overcome their instability by epigenetically inactivating and/or deleting one of the two centromeres, thus resulting in functionally monocentric chromosomes that segregate normally during cell division. Our understanding to date of dicentric chromosome formation, behavior and fate has been largely inferred from observational studies in plants and humans as well as artificially produced de novo dicentrics in yeast and in human cells...
July 1, 2017: Molecular Biology and Evolution
https://www.readbyqxmd.com/read/28328310/developing-human-radiation-biodosimetry-models-testing-cross-species-conversion-approaches-using-an-ex-vivo-model-system
#18
Jin G Park, Sunirmal Paul, Natalia Briones, Jia Zeng, Kristin Gillis, Garrick Wallstrom, Joshua LaBaer, Sally A Amundson
In the event of a large-scale radiation exposure, accurate and quick assessment of radiation dose received would be critical for triage and medical treatment of large numbers of potentially exposed individuals. Current methods of biodosimetry, such as the dicentric chromosome assay, are time consuming and require sophisticated equipment and highly trained personnel. Therefore, scalable biodosimetry approaches, including gene expression profiles in peripheral blood cells, are being investigated. Due to the limited availability of appropriate human samples, biodosimetry development has relied heavily on mouse models, which are not directly applicable to human response...
June 2017: Radiation Research
https://www.readbyqxmd.com/read/28259884/the-dicentric-chromosome-dic-20-22-is-a-recurrent-abnormality-in-myelodysplastic-syndromes-and-is-a-product-of-telomere-fusion
#19
Ruth N MacKinnon, Hendrika M Duivenvoorden, Lynda J Campbell, Meaghan Wall
We describe a recurrent dicentric chromosome formed by telomere fusion between chromosome 20 and chromosome 22 in 4 cases of myelodysplastic syndromes (MDS) or acute myeloid leukaemia (AML). In particular, the presence of residual telomere sequences at the site of translocation in 3 of the 4 cases makes a compelling case for telomere fusion. This is the first description of a recurrent telomere fusion event in any malignant condition. The 20q subtelomeric region was retained in all 4 examples despite deletion of the 20q12 region closer to the centromere...
2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28250914/the-application-of-imaging-flow-cytometry-to-high-throughput-biodosimetry
#20
REVIEW
Ruth C Wilkins, Matthew A Rodrigues, Lindsay A Beaton-Green
Biodosimetry methods, including the dicentric chromosome assay, the cytokinesis-block micronucleus assay and the γH2AX marker of DNA damage are used to determine the dose of ionizing radiation. These techniques are particularly useful when physical dosimetry is absent or questioned. While these assays can be very sensitive and specific, the standard methods need to be adapted to increase sample throughput in the case of a large-scale radiological/nuclear event. Recent modifications to the microscope-based assays have resulted in some increased throughput, and a number of biodosimetry networks have been, and continue to be, established and strengthened...
2017: Genome Integrity
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