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https://www.readbyqxmd.com/read/29786757/copy-number-abnormality-of-acute-lymphoblastic-leukemia-cell-lines-based-on-their-genetic-subtypes
#1
Chihiro Tomoyasu, Toshihiko Imamura, Toshihiro Tomii, Mio Yano, Daisuke Asai, Hiroaki Goto, Akira Shimada, Masashi Sanada, Shotaro Iwamoto, Junko Takita, Masayoshi Minegishi, Takeshi Inukai, Kanji Sugita, Hajime Hosoi
In this study, we performed genetic analysis of 83 B cell precursor acute lymphoblastic leukemia (B-ALL) cell lines. First, we performed multiplex ligation-dependent probe amplification analysis to identify copy number abnormalities (CNAs) in eight genes associated with B-ALL according to genetic subtype. In Ph+ B-ALL cell lines, the frequencies of IKZF1, CDKN2A/2B, BTG1, and PAX5 deletion were significantly higher than those in Ph- B-ALL cell lines. The frequency of CDKN2A/2B deletion in KMT2A rearranged cell lines was significantly lower than that in non-KMT2A rearranged cell lines...
May 21, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29784935/a-causal-mechanism-for-childhood-acute-lymphoblastic-leukaemia
#2
REVIEW
Mel Greaves
In this Review, I present evidence supporting a multifactorial causation of childhood acute lymphoblastic leukaemia (ALL), a major subtype of paediatric cancer. ALL evolves in two discrete steps. First, in utero initiation by fusion gene formation or hyperdiploidy generates a covert, pre-leukaemic clone. Second, in a small fraction of these cases, the postnatal acquisition of secondary genetic changes (primarily V(D)J recombination-activating protein (RAG) and activation-induced cytidine deaminase (AID)-driven copy number alterations in the case of ETS translocation variant 6 (ETV6)-runt-related transcription factor 1 (RUNX1)+ ALL) drives conversion to overt leukaemia...
May 21, 2018: Nature Reviews. Cancer
https://www.readbyqxmd.com/read/29778230/etv6-runx1-positive-childhood-acute-lymphoblastic-leukemia-all-the-spectrum-of-clonal-heterogeneity-and-its-impact-on-prognosis
#3
Μ Αmpatzidou, S I Papadhimitriou, G Paterakis, D Pavlidis, Κ Tsitsikas, I V Kostopoulos, V Papadakis, G Vassilopoulos, S Polychronopoulou
The prognostic significance of the ETV6/RUNX1-fusion and of the accompanying aberrations is disputable; whether co-existing sub-clones are responsible for delayed MRD-clearance and thus, moderate outcome, remains to be clarified. We studied, in a paediatric cohort of 119 B-ALLs, the relation between the ETV6/RUNX1 aberration and the co-existing subclones with (a) presenting clinical/biological features, (b) early response to treatment(MRD) and (c) long-term outcome over a 12-year period. Patients were homogeneously treated according to BFM-based-protocols...
August 2018: Cancer Genetics
https://www.readbyqxmd.com/read/29763473/maternal-folate-genes-and-aberrant-dna-hypermethylation-in-pediatric-acute-lymphoblastic-leukemia
#4
Jeremy M Schraw, Teresa T Yiu, Philip J Lupo, Spiridon Tsavachidis, Rachel Rau, Melissa L Bondy, Karen R Rabin, Lanlan Shen, Michael E Scheurer
BACKGROUND: There is evidence that maternal genotypes in folate-related genes are associated with pediatric acute lymphoblastic leukemia (ALL) independent of offspring genotype. We evaluated the relationship between maternal genotypes in methionine synthase (MTR) and DNA methylation status in ALL to better characterize the molecular mechanism underlying this association. PROCEDURE: We obtained bone marrow samples from 51 patients with ALL at diagnosis and from 6 healthy donors...
2018: PloS One
https://www.readbyqxmd.com/read/29762780/an-intersection-network-based-on-combining-snp-co-association-and-rna-co-expression-networks-for-feed-utilization-traits-in-japanese-black-cattle
#5
D Okada, S Endo, H Matsuda, S Ogawa, Y Taniguchi, T Katsuta, T Watanabe, H Iwaisaki
Genome-wide association studies (GWAS) of quantitative traits have detected numerous genetic associations, but they encounter difficulties in pinpointing prominent candidate genes and inferring gene networks. The present study used a systems genetics approach integrating GWAS results with external RNA-expression data to detect candidate gene networks in feed utilization and growth traits of Japanese Black cattle, which are matters of concern. A SNP co-association network was derived from significant correlations between SNPs with effects estimated by GWAS across seven phenotypic traits...
May 12, 2018: Journal of Animal Science
https://www.readbyqxmd.com/read/29752049/the-screening-and-electron-microscopy-observation-of-mammary-analogue-secretory-carcinoma-in-chinese
#6
Yi Zhong, Liu Liu, Bin Qi, Xiaoling Song, Linhan Shen, Hongwei Li
Mammary analogue secretory carcinoma of salivary gland (MASC) is a tumor with histopathologic and immunophenotypic features mimicking secretory carcinoma of the breast harboring the ETV6 split. The expression of mammaglobin, S-100, Ki-67, P63 and ETV6 split were detected in twelve cases of acinar cell carcinoma and fourteen cases of mammary analogue secretory carcinoma of salivary gland by immunohistochemistry and fluorescence in situ hybridization respectively. The expression of ETV6 gene split was detected in fourteen mammary analogue secretory carcinomas of salivary gland with positive expression of mammaglobin...
October 19, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29726059/two-novel-fusion-genes-aif1l-etv6-and-abl1-aif1l-result-together-with-etv6-abl1-from-a-single-chromosomal-rearrangement-in-acute-lymphoblastic-leukemia-with-prenatal-origin
#7
Julius Lukes, Eliska Potuckova, Lucie Sramkova, Jan Stary, Julia Starkova, Jan Trka, Felix Votava, Jan Zuna, Marketa Zaliova
Fusion genes resulting from chromosomal rearrangements represent a hallmark of childhood acute lymphoblastic leukemia (ALL). Unlike more common fusion genes generated via simple reciprocal chromosomal translocations, formation of the ETV6-ABL1 fusion gene requires 3 DNA breaks and usually results from an interchromosomal insertion. We report a child with ALL in which a single interchromosomal insertion led to the formation of ETV6-ABL1 and two novel fusion genes: AIF1L-ETV6 and ABL1-AIF1L. We demonstrate the prenatal origin of this complex chromosomal rearrangement, which apparently initiated the leukemogenic process, by successful backtracking of the ETV6-ABL1 fusion into the patient's archived neonatal blood...
May 4, 2018: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/29695691/-identification-of-fusion-transcripts-in-leuk%C3%B0%C2%B5mic-cells-by-whole-transcriptome-sequencing
#8
A Yu Ikonnikova, Yu I Ammour, A V Snezhkina, G S Krasnov, A V Kudryavtseva, T V Nasedkina
Genetic aberrations in leukemia often lead to the formation of expressed chimeric genes, which should be assessed for proper diagnosis and therapy. Modern methods of molecular diagnostic mainly allow to identify already known fusion genes. RNAseq is an efficient tool for identification of rare and novel chimeric transcripts. Here we present the results of the whole transcriptome analysis of bone marrow samples from five patients with acute myeloblastic leukemia and one, with myelodysplastic syndrome. The whole-transcriptome analysis was performed using Illumina/Solexa approach...
March 2018: Molekuliarnaia Biologiia
https://www.readbyqxmd.com/read/29683818/pan-trk-immunohistochemistry-identifies-ntrk-rearrangements-in-pediatric-mesenchymal-tumors
#9
Erin R Rudzinski, Christina M Lockwood, Bradley A Stohr, Sara O Vargas, Rachel Sheridan, Jennifer O Black, Veena Rajaram, Theodore W Laetsch, Jessica L Davis
Activating neurotrophic receptor kinase (NTRK) fusions define certain pediatric mesenchymal tumors, including infantile fibrosarcoma and cellular mesoblastic nephroma. Traditionally, molecular confirmation of these fusions has included either fluorescent in situ hybridization for ETV6 rearrangements or reverse-transcriptase polymerase chain reaction for the classic ETV6-NTRK3 fusion. However, these methods overlook variant NTRK rearrangements, which are increasingly appreciated as recurrent events in a subset of pediatric mesenchymal tumors...
April 20, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29683817/the-etv6-ret-gene-fusion-is-found-in-etv6-rearranged-low-grade-sinonasal-adenocarcinoma-without-ntrk3-involvement
#10
Simon Andreasen, Katalin Kiss, Linea C Melchior, Jan Laco
No abstract text is available yet for this article.
April 20, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29683815/salivary-secretory-carcinoma-with-a-novel-etv6-met-fusion-expanding-the-molecular-spectrum-of-a-recently-described-entity
#11
Lisa M Rooper, Theodoros Karantanos, Yi Ning, Justin A Bishop, Sarah W Gordon, Hyunseok Kang
Secretory carcinoma of the salivary glands, also known as mammary analogue secretory carcinoma, is a recently described tumor characterized by generally indolent clinical behavior and recurrent ETV6-NTRK3 fusions. However, a small subset of recent cases with high-grade histology, aggressive behavior, or alternate molecular findings are expanding the spectrum of this entity. In this case, a 59-year-old female presented with an infiltrative submandibular gland tumor that was originally classified as a high-grade acinic cell carcinoma, papillary-cystic variant...
April 20, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29672325/primary-mammary-analog-secretory-carcinoma-masc-of-the-vulva-with-etv6-ntrk3-fusion-a-case-report
#12
Jane K Nguyen, Julia A Bridge, Chandrika Joshi, Jesse K McKenney
Mammary analog secretory carcinoma is a primary salivary gland neoplasm with histologic, immunophenotypic, and molecular features identical to those of secretory carcinoma of the breast. Similar neoplasms have now been reported to occur in various nonmammary sites including the parotid gland, submandibular gland, sinuses, lip, skin, thyroid gland, and lung. We report, to our knowledge, the first example of a primary vulvar neoplasm with pathologic features identical to secretory carcinoma of the breast and an ETV6-NTRK3 fusion...
April 19, 2018: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/29617048/pseudosarcomatous-myofibroblastic-proliferations-of-the-genitourinary-tract-are-genetically-different-from-nodular-fasciitis-and-lack-usp6-ros1-and-etv6-gene-rearrangements
#13
Judith As Jebastin, Steven C Smith, Kyle D Perry, Nilesh S Gupta, Shaheen Alanee, Shannon Carskadon, Dhananjay A Chitale, Nallasivam Palanisamy, Sean R Williamson
AIMS: Pseudosarcomatous myofibroblastic proliferations of the genitourinary tract have a debatable relationship to inflammatory myofibroblastic tumour (generally lacking ALK rearrangement); however, they share several overlapping features with nodular fasciitis of soft tissue. Since rearrangement of the USP6 gene has been recently recognized as a recurrent alteration in soft tissue nodular fasciitis, and several other alternative gene fusions have been recently recognized in inflammatory myofibroblastic tumour, we studied whether USP6, ROS1, or ETV6 gene rearrangements were present in these lesions (12 cases)...
April 4, 2018: Histopathology
https://www.readbyqxmd.com/read/29589281/treatment-outcome-of-children-with-acute-lymphoblastic-leukemia-the-tokyo-children-s-cancer-study-group-tccsg-study-l04-16
#14
Hiroyuki Takahashi, Ryosuke Kajiwara, Motohiro Kato, Daisuke Hasegawa, Daisuke Tomizawa, Yasushi Noguchi, Kazutoshi Koike, Daisuke Toyama, Hiromasa Yabe, Michiko Kajiwara, Junya Fujimura, Manabu Sotomatsu, Setsuo Ota, Miho Maeda, Hiroaki Goto, Yoko Kato, Tetsuya Mori, Takeshi Inukai, Hiroyuki Shimada, Keitaro Fukushima, Chitose Ogawa, Atsushi Makimoto, Takashi Fukushima, Kentaro Ohki, Katsuyoshi Koh, Nobutaka Kiyokawa, Atsushi Manabe, Akira Ohara
The survival rate of children with acute lymphoblastic leukemia (ALL) has increased to approximately 90% after substantial progress in risk-oriented treatment strategies. Between 2005 and 2013, the Tokyo Children's Cancer Study Group (TCCSG) conducted a risk-oriented, non-randomized study, L04-16. The principal aim of this study was to assemble background characteristics and treatment outcomes, and gather genetic information on leukemic cells under central diagnosis. This report outlines the background characteristics and treatment outcomes of 1033 children with ALL treated according to a TCCSG platform...
March 27, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29575541/simultaneous-detection-of-abl1-mutation-and-ikzf1-deletion-in-philadelphia-chromosome-positive-acute-lymphoblastic-leukemia-using-a-customized-target-enrichment-system-panel
#15
M Aoe, H Ishida, T Matsubara, S Karakawa, H Kawaguchi, K Fujiwara, K Kanamitsu, K Washio, K Okada, M Shibakura, A Shimada
INTRODUCTION: Recent clinical outcomes of pediatric Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ALL) vastly improved owing to tyrosine kinase inhibitor (TKI). However, the genetic status would be different in each case with ABL1 gene mutation or copy number variants (CNVs) such as IKZF1 deletion. In particular, the TKI resistant clone with ABL1 kinase mutation remains problematic. The comprehensive assessment of genetic status including mutation, insertion and deletion (indel) and CNVs is necessary...
March 25, 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29569294/aml-with-t-7-12-q36-p13-is-associated-with-infancy-and-trisomy-19-data-from-nopho-aml-and-review-of-the-literature
#16
Anne Dorte Lerche Espersen, Ulrika Noren-Nyström, Jonas Abrahamsson, Shau-Yin Ha, Cornelis Jan Pronk, Kirsi Jahnukainen, Ólafur G Jónsson, Birgitte Lausen, Josefine Palle, Bernward Zeller, Lars Palmqvist, Henrik Hasle
The t(7;12)(q36;p13) (MNX1/ETV6) is not included in the WHO classification but has been described in up to 30% of acute myeloid leukemia (AML) in children <2 years and associated with a poor prognosis. We present the clinical and cytogenetics characteristics of AML cases with t(7;12)(p36;p13). A literature review identified 35 patients with this translocation, published between 2000 and 2015. Outcome data were available in 22 cases. The NOPHO-AML (Nordic Society for Pediatric Hematology and Oncology) database contained 651 patients with AML from 1993 to 2014 and seven (1...
March 22, 2018: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/29568395/merestinib-ly2801653-inhibits-neurotrophic-receptor-kinase-ntrk-and-suppresses-growth-of-ntrk-fusion-bearing-tumors
#17
Bruce W Konicek, Andrew R Capen, Kelly M Credille, Philip J Ebert, Beverly L Falcon, Gary L Heady, Bharvin K R Patel, Victoria L Peek, Jennifer R Stephens, Julie A Stewart, Stephanie L Stout, David E Timm, Suzane L Um, Melinda D Willard, Isabella H Wulur, Yi Zeng, Yong Wang, Richard A Walgren, Sau-Chi Betty Yan
Merestinib is an oral multi-kinase inhibitor targeting a limited number of oncokinases including MET, AXL, RON and MKNK1/2. Here, we report that merestinib inhibits neurotrophic receptor tyrosine kinases NTRK1/2/3 which are oncogenic drivers in tumors bearing NTRK fusion resulting from chromosomal rearrangements. Merestinib is shown to be a type II NTRK1 kinase inhibitor as determined by x-ray crystallography. In KM-12 cells harboring TPM3-NTRK1 fusion, merestinib exhibits potent p-NTRK1 inhibition in vitro by western blot and elicits an anti-proliferative response in two- and three-dimensional growth...
March 2, 2018: Oncotarget
https://www.readbyqxmd.com/read/29566949/secretory-carcinoma-of-the-parotid-with-adenoid-cystic-carcinoma-cytological-pattern-a-cytological-pathological-correlation-with-literature-review
#18
Oleksandr Kravtsov, Bryan Hunt, Jess Peterson, Luis Carrillo, Peter Bonneau, Tamara Giorgadze
Secretory carcinoma (SC) is a rare low-grade malignant tumor, defined by ETV6-NTRK3 fusion, identifiable by FISH. We describe a case in a 58-year-old male with a painless slowly growing 16mm palpable mass within left superficial parotid. FNA of the mass showed highly cellular specimen with moderate to large pleomorphic cells with round to ovoid nuclei with vesicular chromatin and distinct nucleoli. Cells had moderate to large amounts of vacuolated cytoplasm. Abundant globular metachromatic material, resembling that of adenoid cystic carcinoma, was noted...
April 2018: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/29555661/salivary-gland-cancer-patient-derived-xenografts-enable-characterization-of-cancer-stem-cells-and-new-gene-fusions-associated-with-tumor-progression
#19
Stephen Keysar, Justin Eagles, Bettina Miller, Brian C Jackson, Farshad N Chowdhury, Julie Reisinger, Tugs-Saikhan Chimed, Phuong N Le, J Jason Morton, Hilary Somerset, Marileila Varella-Garcia, Aik-Choon Tan, John I Song, Daniel W Bowles, Mary E Reyland, Antonio Jimeno
PURPOSE: Salivary gland cancers (SGC) frequently present with distant metastases many years after diagnosis, suggesting a cancer stem cell (CSC) subpopulation that initiates late recurrences; however current models are limited both in their availability and suitability to characterize these rare cells. EXPERIMENTAL DESIGN: Patient-derived xenografts (PDX) were generated by engrafting patient tissue onto nude mice from one acinic cell carcinoma (AciCC), four adenoid cystic carcinoma (ACC), and three mucoepidermoid carcinoma (MEC) cases, which were derived from successive relapses from the same MEC patient...
March 19, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29554589/conditional-gene-knockout-and-reconstitution-in-human-ipscs-with-an-inducible-cas9-system
#20
Mengyao Wu, Senquan Liu, Yongxing Gao, Hao Bai, Vasiliki Machairaki, Gang Li, Tong Chen, Linzhao Cheng
Precise genome editing in human induced pluripotent stem cells (iPSCs) significantly enhances our capability to use human iPSCs for disease modeling, drug testing and screening as well as investigation of human cell biology. In this study, we seek to achieve conditional expression of the CD55 gene in order to interrogate its functions. We used two human iPSC lines that have unique genotypes, and constructed an inducible Cas9 gene expression system that is integrated at the AAVS1 safe harbor site in the human genome...
March 10, 2018: Stem Cell Research
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