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https://www.readbyqxmd.com/read/27913495/germ-line-mutations-associated-with-leukemias
#1
Christopher C Porter
Several genetic syndromes have long been associated with a predisposition to the development of leukemia, including bone marrow failure syndromes, Down syndrome, and Li Fraumeni syndrome. Recent work has better defined the leukemia risk and outcomes in these syndromes. Also, in the last several years, a number of other germ line mutations have been discovered to define new leukemia predisposition syndromes, including ANKRD26, GATA2, PAX5, ETV6, and DDX41 In addition, data suggest that a substantial proportion of patients with therapy related leukemias harbor germ line mutations in DNA damage response genes such as BRCA1/2 and TP53 Recognition of clinical associations, acquisition of a thorough family history, and high index-of-suspicion are critical in the diagnosis of these leukemia predisposition syndromes...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27900092/primary-orbital-precursor-t-cell-lymphoblastic-lymphoma-report-of-a-unique-case
#2
Lisa Stenman, Marta Persson, Fredrik Enlund, Erik Clasen-Linde, Göran Stenman, Steffen Heegaard
Primary T-cell lymphoblastic lymphoma (T-LBL) in the eye region is very rare. The present study described a unique case of T-LBL involving the extraocular muscles. A 22-year-old male patient presented with a 3-week history of headache, reduced visual acuity and edema of the left eye. Clinical examination revealed left-sided exophthalmus, periorbital edema, chemosis, and reduced motility of the left eye. A magnetic resonance imaging scan revealed thickening of the left orbital muscles and a positron emission tomography-computed tomography scan also demonstrated activity in a subclavicular lymph node...
November 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/27895713/coexistence-of-iamp21-and-etv6-runx1-fusion-in-an-adolescent-with-b-cell-acute-lymphoblastic-leukemia-literature-review-of-six-additional-cases
#3
Jun Gu, Alexandra Reynolds, Lianghua Fang, Corrie DeGraffenreid, Kenneth Sterns, Keyur P Patel, L Jeffrey Medeiros, Pei Lin, Xinyan Lu
BACKGROUND: Intrachromosomal amplification of chromosome 21 (iAMP21) results from breakage-fusion-bridge cycles and chromothripsis is a distinct marker of a subgroup of B cell acute lymphoblastic leukemia (B-ALL) cases associated with a poor prognosis. iAMP21 accounts for 2% of pediatric B-ALL and occurs predominantly in older children or adolescents. ETV6-RUNX1 fusion, resulting from t(12;21)(p13;q22), is associated with an excellent outcome in younger children with B-ALL. Coexistence of iAMP21 with ETV6-RUNX1 fusion is extremely rare with limited clinical information available...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27849443/fusion-oncogenes-are-the-main-genetic-events-found-in-sporadic-papillary-thyroid-carcinomas-from-children
#4
Maria Isabel Cunha Vieira Cordioli, Lais Moraes, André Uchimura Bastos, Paloma Besson, Maria Teresa de Seixas Alves, Rosana Delcelo, Osmar Monte, Carlos A Longui, Adriano Namo Cury, Janete Cerutti
BACKGROUND: Previous studies reported significant differences in the clinical presentation and outcomes of papillary thyroid carcinoma (PTC) in pediatric patients compared to adults. Previous studies have suggested that the clinicopathological differences observed between pediatric and adult PTC may be due the existence of distinct genetic alterations. However, the knowledge of genetic events in pediatric PTC is based primarily on studies in radiation-exposed PTC or in few studies that enrolled predominantly adolescent patients...
November 16, 2016: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27819178/myelodysplastic-syndromes-and-acute-leukemia-with-genetic-predispositions-a-new-challenge-for-hematologists
#5
Nicolas Duployez, Sophie Lejeune, Aline Renneville, Claude Preudhomme
The determination of an underlying genetic predisposition is not automatically part of the diagnosis of hematological malignancies (HM) in routine practice. However, it is assumed that genetic predispositions to HM are currently underestimated due to great variations in disease phenotype, variable latency and incomplete penetrance. Most of patients do not display any biological or clinical signs besides the overt hematological disease and many of them have a lack of personal or family history of malignancies...
December 2016: Expert Review of Hematology
https://www.readbyqxmd.com/read/27812500/an-etv6-abl1-fusion-in-a-patient-with-chronic-myeloproliferative-neoplasm-initial-response-to-imatinib-followed-by-rapid-transformation-into-all
#6
Purvi M Kakadia, Ralf Schmidmaier, Andreas Völkl, Irene Schneider, Natalia Huk, Stephanie Schneider, Gerda Panzner, Ulrike Neidel, Barbara Fritz, Karsten Spiekermann, Stefan K Bohlander
We report the case of a 26 year-old patient presenting with a persistent leukocytosis and CML-like marrow but no evidence of a BCR/ABL1 fusion. Molecular cytogenetics revealed that a portion of the ETV6 locus was inserted into the ABL1 locus. An ETV6/ABL1 fusion transcript could subsequently be confirmed. The patient was started on imatinib and went into complete cytomorphological remission. QRT-PCR measurements showed a 4 log reduction of the ETV6/ABL1 fusion. 15 months later, the disease transformed into ALL and the patient expired...
2016: Leukemia Research Reports
https://www.readbyqxmd.com/read/27802191/molecular-combing-a-new-tool-in-diagnosing-leukemia
#7
Antoine Ittel, Hélène Zattara, Charlène Chaix, Gérard Michel, Nicolas Levy
BACKGROUND: According to the World Health Organization (WHO), recurrent cytogenetic abnormalities define many specific groups of hematopoietic tumors of acute myeloid and lymphoblastic leukemia, and these abnormalities are often strongly associated with prognosis and sometimes require specific treatments. These rearrangements are commonly detected by conventional and molecular cytogenetic techniques. OBJECTIVE: Using an alternative method, we sought to highlight the presence of chromosomal rearrangements...
September 30, 2016: Cancer Biomarkers: Section A of Disease Markers
https://www.readbyqxmd.com/read/27796151/cell-cycle-m-phase-genes-are-highly-upregulated-in-anaplastic-thyroid-carcinoma
#8
Paul Weinberger, Sithara Raju Ponny, Hongyan Xu, Shan Bai, Robert C Smallridge, John A Copland, Ashok Sharma
<b>Background:</b> Anaplastic thyroid carcinoma (ATC) accounts for only 3% of thyroid cancers, yet strikingly it accounts for almost 40% of thyroid cancer deaths. Currently, no effective therapies exist. In an effort to identify ATC-specific therapeutic targets, we analyzed global gene expression data from multiple studies to identify ATC specific dysregulated genes. <b>Methods:</b> The NCBI Gene Expression Omnibus database was searched for high-throughput gene expression microarray studies from human ATC tissue along with normal thyroid and/or papillary thyroid cancer (PTC) tissue...
October 31, 2016: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27775641/genetic-heterogeneity-of-her2-amplification-and-telomere-shortening-in-papillary-thyroid-carcinoma
#9
Paola Caria, Silvia Cantara, Daniela Virginia Frau, Furio Pacini, Roberta Vanni, Tinuccia Dettori
Extensive research is dedicated to understanding if sporadic and familial papillary thyroid carcinoma are distinct biological entities. We have previously demonstrated that familial papillary thyroid cancer (fPTC) cells exhibit short relative telomere length (RTL) in both blood and tissues and that these features may be associated with chromosome instability. Here, we investigated the frequency of HER2 (Human Epidermal Growth Factor Receptor 2) amplification, and other recently reported genetic alterations in sporadic PTC (sPTC) and fPTC, and assessed correlations with RTL and BRAF mutational status...
October 21, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27763904/primary-cutaneous-mammary-analog-secretory-carcinoma-with-etv6-ntrk3-translocation
#10
Sapna M Amin, Adam Beattie, Xia Ling, Lawrence J Jennings, Joan Guitart
Mammary analog secretory carcinoma (MASC) is a recently described tumor of the salivary glands named for its morphological and molecular similarity to secretory carcinoma of the breast. Many primary carcinomas arising from the adnexal glands also share similar morphology to those arising from the breast. Brandt et al first described primary cutaneous MASC in 2009 and since then only 2 other cases have been reported. Herein, we describe a long-standing mass on the arm of an otherwise healthy 40-year-old female...
November 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27746819/myeloid-neoplasms-with-t-5-12-and-etv6-acsl6-gene-fusion-potential-mimickers-of-myeloid-neoplasm-with-pdgfrb-rearrangement-case-report-with-imatinib-therapy-and-review-of-the-literature
#11
Javier De Luca-Johnson, Jose I Ruades Ninfea, Lauren Pearson, Joanna Conant, Ronald Bryant, Neil A Zakai, Mary E Tang
We report the second case of ETV6-ACSL6 associated myeloproliferative neoplasm that has received a full course of imatinib therapy. The patient was a 51-year-old previously healthy man who presented with three months of worsening dyspnea and was found to have a white count of 216,000/cmm, of which 84% were eosinophil lineage. Cytogenetic analysis revealed a t(5;12)(q31~33;p13). FISH was negative for PDGFRB rearrangement but additional FISH testing demonstrated an ACSL6 rearrangement. ETV6-ACSL6 gene fusion is a rare abnormality that most often presents as a myeloproliferative-type disorder with prominent eosinophilia or basophilia...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27746161/epidermal-growth-factor-receptor-signaling-promotes-metastatic-prostate-cancer-through-microrna-96-mediated-downregulation-of-the-tumor-suppressor-etv6
#12
Yuan-Chin Tsai, Wei-Yu Chen, Man Kit Siu, Hong-Yuan Tsai, Juan Juan Yin, Jiaoti Huang, Yen-Nien Liu
It has been suggested that ETV6 serves as a tumor suppressor; however, its molecular regulation and cellular functions remain unclear. We used prostate cancer as a model system and demonstrated a molecular mechanism in which ETV6 can be regulated by epidermal growth factor receptor (EGFR) signaling through microRNA-96 (miR-96)-mediated downregulation. In addition, EGFR acts as a transcriptional coactivator that binds to the promoter of primary miR-96 and transcriptionally regulates miR-96 levels. We analyzed two sets of clinical prostate cancer samples, confirmed association patterns that were consistent with the EGFR-miR-96-ETV6 signaling model and demonstrated that the reduced ETV6 levels were associated with malignant prostate cancer...
January 1, 2017: Cancer Letters
https://www.readbyqxmd.com/read/27720350/cytogenetic-and-immunohistochemical-characterization-of-mammary-analogue-secretory-carcinoma-of-salivary-glands
#13
Syed A Khurram, Jemel Sultan-Khan, Neil Atkey, Paul M Speight
OBJECTIVES: Mammary analogue secretory carcinoma (MASC), initially considered a subset of acinic cell carcinoma (ACC), harbors an ETV6 translocation [t(12:15)(p13:25 q)] and is now regarded as a distinct entity. Several putative markers to differentiate MASC from ACC have been reported; however, the immunohistochemical profile is still being explored and updated. The purpose of this study was to further explore the cytogenetic and immunohistochemical profile of MASC. STUDY DESIGN: Cases were analyzed for ETV6 translocation using fluorescent in situ hybridization and stained for CK8, amylase, mammaglobin, GCDFP-15, MUC1, MUC4, STAT5a, Ki-67 (n = 37), CK7, Cam5...
July 20, 2016: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/27710957/translocation-9-12-q34-1-p13-3-resulted-in-etv6-abl1-fusion-in-a-patient-with-philadelphia-chromosome-negative-chronic-myelogenous-leukemia
#14
Naoki Mori, Mari Ohwashi-Miyazaki, Michiko Okada, Kentaro Yoshinaga, Masayuki Shiseki, Junji Tanaka
No abstract text is available yet for this article.
2016: Acta Haematologica
https://www.readbyqxmd.com/read/27698447/long-term-outcome-of-six-month-maintenance-chemotherapy-for-acute-lymphoblastic-leukemia-in-children
#15
M Kato, S Ishimaru, M Seki, K Yoshida, Y Shiraishi, K Chiba, N Kakiuchi, Y Sato, H Ueno, H Tanaka, T Inukai, D Tomizawa, D Hasegawa, T Osumi, Y Arakawa, T Aoki, M Okuya, K Kaizu, K Kato, Y Taneyama, H Goto, T Taki, M Takagi, M Sanada, K Koh, J Takita, S Miyano, S Ogawa, A Ohara, M Tsuchida, A Manabe
In the treatment of childhood acute lymphoblastic leukemia (ALL), excess shortening of maintenance therapy resulted in high relapse rate, as shown by our previous trial, TCCSG L92-13, in which maintenance therapy was terminated at one year from initiation of treatment. In this study, we aimed to confirm the long-term outcome of L92-13, and to identify who can or cannot be cured by shorter duration of maintenance therapy. To obtain sentinel cytogenetics information which had been missed before, we performed genetic analysis with genomic microarray and target intron-capture sequencing from diagnostic bone marrow smear...
October 4, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27683100/the-treatment-of-childhood-acute-lymphoblastic-leukemia-in-guatemala-biologic-features-treatment-hurdles-and-results
#16
Federico G Antillón, Jessica G Blanco, Patricia D Valverde, Mauricio Castellanos, Claudia P Garrido, Veronica Girón, Tomas R Letona, Emilia J Osorio, Dyna A Borrayo, Ricardo A Mack, Mario A Melgar, Rodolfo Lorenzana, Raul C Ribeiro, Monika Metzger, Valentino Conter, Emanuela Rossi, Maria Grazia Valsecchi
BACKGROUND: The National Pediatric Oncology Unit (UNOP) is the only pediatric hemato-oncology center in Guatemala. METHODS: Patients ages 1 to 17 years with acute lymphoblastic leukemia (ALL) were treated according to modified ALL Intercontinental Berlin-Frankfurt-Münster (IC-BFM) 2002 protocol. Risk classification was based on age, white blood cell count, immunophenotype, genetics (when available), and early response to therapy. RESULTS: From July 2007 to June 2014, 787 patients were treated, including 160 who had standard-risk ALL, 450 who had intermediate-risk ALL, and 177 who had high-risk ALL...
September 28, 2016: Cancer
https://www.readbyqxmd.com/read/27670353/combined-dog1-and-mammaglobin-immunohistochemistry-is-comparable-to-etv6-breakapart-analysis-for-differentiating-between-papillary-cystic-variants-of-acinic-cell-carcinoma-and-mammary-analogue-secretory-carcinoma
#17
Nasser Said-Al-Naief, Roman Carlos, Gail H Vance, Caroline Miller, Paul C Edwards
Background We investigated the reliability of combined DOG1 and mammaglobin immunohistochemistry compared with ETV6 fluorescence in situ hybridization (FISH) in the assessment of salivary tumors previously diagnosed as acinic cell carcinoma (ACC). Ultrastructural features of cases reclassified as mammary analogue secretory carcinoma (MASC) were assessed by transmission electron microscopy (TEM). Methods Immunohistochemical (IHC) reactivity to DOG1 and mammaglobin was validated against FISH targeting the ETV6 gene in all 14 cases...
September 26, 2016: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27664585/characterization-of-a-novel-acquired-der-1-del-1-p13p31-t-1-15-q42-q15-in-a-high-risk-t-12-21-positive-acute-lymphoblastic-leukemia
#18
Eigil Kjeldsen
The t(12;21)(p13;q22) with ETV6-RUNX1 fusion occurs in 25% of cases of B-cell precursor acute lymphoblastic leukemia (BCP-ALL); and is generally associated with favorable prognosis. However, 15-20% of the t(12;21)-positive cases are associated with high-risk disease due to for example slow early responses to therapy. It is well-known that development of overt leukemia in t(12;21)-positive ALL requires secondary chromosomal aberrations although the full spectrum of these cytogenetic alterations is yet unsettled, and also, how they may be associated with disease outcome...
September 21, 2016: Gene
https://www.readbyqxmd.com/read/27663637/germline-variants-in-etv6-underlie-reduced-platelet-formation-platelet-dysfunction-and-increased-levels-of-circulating-cd34-progenitors
#19
Marjorie Poggi, Matthias Canault, Marie Favier, Ernest Turro, Paul Saultier, Dorsaf Ghalloussi, Veronique Baccini, Lea Vidal, Anna Mezzapesa, Nadjim Chelghoum, Badreddine Mohand-Oumoussa, Cé Line Falaise, Rémi Favier, Willem H Ouwehand, Mathieu Fiore, Franck Peiretti, Pierre Emmanuel Morange, Noémie Saut, Denis Bernot, Andreas Greinacher, Alan T Nurden, Paquita Nurden, Kathleen Freson, David-Alexandre Trégouët, Hana Raslova, Marie-Christine Alessi
Variants in ETV6, which encodes a transcription repressor of the E26 transformation-specific family, have recently been reported to be responsible for inherited thrombocytopenia and hematologic malignancy. We sequenced the DNA from cases with unexplained dominant thrombocytopenia and identified six likely pathogenic variants in ETV6, of which five are novel. We observed low repressive activity of all tested ETV6 variants and variants located in the E26 transformation-specific binding domain (encoding p.A377T, p...
September 23, 2016: Haematologica
https://www.readbyqxmd.com/read/27658560/extended-immunologic-and-genetic-lineage-of-mammary-analogue-secretory-carcinoma-of-salivary-glands
#20
Hao Ni, Xue-Ping Zhang, Xiao-Tong Wang, Qiu-Yuan Xia, Jing-Huan Lv, Xuan Wang, Shan-Shan Shi, Rui Li, Xiao-Jun Zhou, Qiu Rao
Mammary analogue secretory carcinoma (MASC) of salivary glands is a newly recognized tumor entity. To explore a more practical and convenient immunohistochemical approach to distinguish MASC from other tumors arising from salivary glands as well as to expand the immunologic and genetic lineage of MASC, we examined 17 MASC using clinicopathologic, immunohistochemical and molecular analysis. 18 cases of acinic cell carcinoma (AciCC), 18 cases of adenoid cystic carcinoma (ACC), 22 cases of mucoepidermoid carcinoma (MEC), and 14 cases of basal cell adenocarcinoma (BCA) were brought in for comparison...
September 19, 2016: Human Pathology
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