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https://www.readbyqxmd.com/read/29148893/reduced-intensity-delayed-intensification-in-standard-risk-pediatric-acute-lymphoblastic-leukemia-defined-by-undetectable-minimal-residual-disease-results-of-an-international-randomized-trial-aieop-bfm-all-2000
#1
Martin Schrappe, Kirsten Bleckmann, Martin Zimmermann, Andrea Biondi, Anja Möricke, Franco Locatelli, Gunnar Cario, Carmelo Rizzari, Andishe Attarbaschi, Maria Grazia Valsecchi, Claus R Bartram, Elena Barisone, Felix Niggli, Charlotte Niemeyer, Anna Maria Testi, Georg Mann, Ottavio Ziino, Beat Schäfer, Renate Panzer-Grümayer, Rita Beier, Rosanna Parasole, Gudrun Göhring, Wolf-Dieter Ludwig, Fiorina Casale, Paul-Gerhardt Schlegel, Giuseppe Basso, Valentino Conter
Purpose Delayed intensification (DI) is an integral part of treatment of childhood acute lymphoblastic leukemia (ALL), but it is associated with relevant toxicity. Therefore, standard-risk patients of trial AIEOP-BFM ALL 2000 (Combination Chemotherapy Based on Risk of Relapse in Treating Young Patients With ALL) were investigated with the specific aim to reduce treatment intensity. Patients and Methods Between July 2000 and July 2006, 1,164 patients (1 to 17 years of age) with standard-risk ALL (defined as the absence of high-risk cytogenetics and undetectable minimal residual disease on days 33 and 78) were randomly assigned to either experimental reduced-intensity DI (protocol III; P-III) or standard DI (protocol II; P-II)...
November 17, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29142456/secretory-carcinoma-impact-of-translocation-and-gene-fusions-on-salivary-gland-tumor
#2
Ryoko Inaki, Masanobu Abe, Liang Zong, Takahiro Abe, Aya Shinozaki-Ushiku, Tetsuo Ushiku, Kazuto Hoshi
Secretory carcinoma (SC), previously described as mammary analogue secretory carcinoma (MASC), is a recently described salivary gland tumor which morphologically resembles mammary secretory carcinoma. The first description of SC/MASC, reported by Skálová et al. in 2010, was as a rare salivary carcinoma imitating secretory carcinoma of the breast. SC/MASC is a unique salivary gland tumor with morphological overlap with acinic cell carcinoma (AciCC), mucoepidermoid carcinoma (MEC), and adenocarcinoma not otherwise specified (ADC-NOS)...
October 2017: Chinese Journal of Cancer Research, Chung-kuo Yen Cheng Yen Chiu
https://www.readbyqxmd.com/read/29139086/diagnostic-approaches-for-salivary-gland-tumors-with-secretory-and-microcystic-features
#3
Ha Young Woo, Eun Chang Choi, Sun Och Yoon
Secretory carcinoma (SC) of the salivary gland is a new entity that shares the unique morphologic features and cytogenetic characteristics of the ETV6-NTRK3 fusion gene with its breast counterpart. Before identification of SC of the salivary gland, it was most frequently diagnosed as acinic cell carcinoma (AciCC). We retrospectively reviewed our own database of salivary gland tumors harboring microcystic and papillary architecture and/or secretory features that were originally diagnosed as AciCC. We selected nine cases of AciCC showing diffuse S-100 expression on immunohistochemistry (IHC)...
November 14, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/29125853/whole-genome-dna-methylation-characteristics-in-pediatric-precursor-b-cell-acute-lymphoblastic-leukemia-bcp-all
#4
Radosław Chaber, Artur Gurgul, Grażyna Wróbel, Olga Haus, Anna Tomoń, Jerzy Kowalczyk, Tomasz Szmatoła, Igor Jasielczuk, Blanka Rybka, Renata Ryczan-Krawczyk, Ewa Duszeńko, Sylwia Stąpor, Krzysztof Ciebiera, Sylwia Paszek, Natalia Potocka, Christopher J Arthur, Izabela Zawlik
In addition to genetic alterations, epigenetic abnormalities have been shown to underlie the pathogenesis of acute lymphoblastic leukemia (ALL)-the most common pediatric cancer. The purpose of this study was to characterize the whole genome DNA methylation profile in children with precursor B-cell ALL (BCP ALL) and to compare this profile with methylation observed in normal bone marrow samples. Additional efforts were made to correlate the observed methylation patterns with selected clinical features. We assessed DNA methylation from bone marrow samples obtained from 38 children with BCP ALL at the time of diagnosis along with 4 samples of normal bone marrow cells as controls using Infinium MethylationEPIC BeadChip Array...
2017: PloS One
https://www.readbyqxmd.com/read/29119387/a-new-etv6-ntrk3-cell-line-model-reveals-malat1-as-a-novel-therapeutic-target-a-short-report
#5
Suning Chen, Stefan Nagel, Bjoern Schneider, Haiping Dai, Robert Geffers, Maren Kaufmann, Corinna Meyer, Claudia Pommerenke, Kenneth S Thress, Jiao Li, Hilmar Quentmeier, Hans G Drexler, Roderick A F MacLeod
BACKGROUND: Previously, the chromosomal translocation t(12;15)(p13;q25) has been found to recurrently occur in both solid tumors and leukemias. This translocation leads to ETV6-NTRK3 (EN) gene fusions resulting in ectopic expression of the NTRK3 neurotropic tyrosine receptor kinase moiety as well as oligomerization through the donated ETV6-sterile alpha motif domain. As yet, no in vitro cell line model carrying this anomaly is available. Here we genetically characterized the acute promyelocytic leukemia (APL) cell line AP-1060 and, by doing so, revealed the presence of a t(12;15)(p13;q25)...
November 8, 2017: Cellular Oncology (Dordrecht)
https://www.readbyqxmd.com/read/29118225/activity-of-entrectinib-in-a-patient-with-the-first-reported-ntrk-fusion-in-neuroendocrine-cancer
#6
Darren Sigal, Marie Tartar, Marin Xavier, Fei Bao, Patrick Foley, David Luo, Jason Christiansen, Zachary Hornby, Edna Chow Maneval, Pratik Multani
Despite advances in genomic analysis, the molecular origin of neuroendocrine tumors (NETs) is complex and poorly explained by described oncogenes. The neurotrophic TRK family, including NTRK1, 2, and 3, encode the proteins TRKA, TRKB, TRKC, respectively, involved in normal nerve development. Because NETs develop from the diffuse neuroendocrine system, we sought to determine whether NTRK alterations occur in NETs and whether TRK-targeted therapy would be effective. A patient with metastatic well-differentiated NET, likely of the small intestine, was enrolled on the STARTRK2 trial (ClinicalTrials...
November 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/29108298/myelodysplastic-syndromes-advantages-of-a-combined-cytogenetic-and-molecular-diagnostic-workup
#7
Elena Ciabatti, Angelo Valetto, Veronica Bertini, Maria Immacolata Ferreri, Alice Guazzelli, Susanna Grassi, Francesca Guerrini, Iacopo Petrini, Maria Rita Metelli, Maria Adelaide Caligo, Simona Rossi, Sara Galimberti
In this study we present a new diagnostic workup for the myelodysplastic syndromes (MDS) including FISH, aCGH, and somatic mutation assays in addition to the conventional cytogenetics (CC). We analyzed 61 patients by CC, FISH for chromosome 5, 7, 8 and PDGFR rearrangements, aCGH, and PCR for ASXL1, EZH2, TP53, TET2, RUNX1, DNMT3A, SF3B1 somatic mutations. Moreover, we quantified WT1 and RPS14 gene expression levels, in order to find their possible adjunctive value and their possible clinical impact. CC analysis showed 32% of patients with at least one aberration...
October 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/29104113/primary-mammary-analogue-secretory-carcinoma-of-the-lung-a-case-report
#8
Tao Huang, Jonathan B McHugh, Gerald J Berry, Jeffrey L Myers
Mammary analogue secretory carcinoma (MASC) is a recently discovered salivary gland tumor described mostly in the major salivary glands and occasionally in the skin. We report a primary endobronchial tumor with histology, immunophenotype, and ETV6 rearrangement characteristic of MASC in a 62-year-old woman. The diagnosis was initially made on a transbronchial biopsy with FISH confirmation of ETV6 rearrangement. The patient underwent lobectomy demonstrating a large endobronchial mass. To our knowledge, this is the first report of MASC arising as a primary pulmonary tumor...
November 2, 2017: Human Pathology
https://www.readbyqxmd.com/read/29099503/recurrent-eml4-ntrk3-fusions-in-infantile-fibrosarcoma-and-congenital-mesoblastic-nephroma-suggest-a-revised-testing-strategy
#9
Alanna J Church, Monica L Calicchio, Valentina Nardi, Alena Skalova, Andre Pinto, Deborah A Dillon, Carmen R Gomez-Fernandez, Namitha Manoj, Josh D Haimes, Joshua A Stahl, Filemon S Dela Cruz, Sarah Tannenbaum-Dvir, Julia L Glade-Bender, Andrew L Kung, Steven G DuBois, Harry P Kozakewich, Katherine A Janeway, Antonio R Perez-Atayde, Marian H Harris
Infantile fibrosarcoma and congenital mesoblastic nephroma are tumors of infancy traditionally associated with the ETV6-NTRK3 gene fusion. However, a number of case reports have identified variant fusions in these tumors. In order to assess the frequency of variant NTRK3 fusions, and in particular whether the recently identified EML4-NTRK3 fusion is recurrent, 63 archival cases of infantile fibrosarcoma, congenital mesoblastic nephroma, mammary analog secretory carcinoma and secretory breast carcinoma (tumor types that are known to carry recurrent ETV6-NTRK3 fusions) were tested with NTRK3 break-apart FISH, EML4-NTRK3 dual fusion FISH, and targeted RNA sequencing...
November 3, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29090505/a-case-of-congenital-infantile-fibrosarcoma-of-the-bowel-presenting-as-a-neonatal-intussusception
#10
Juma Obayashi, Hirotaka Koizumi, Masahiro Hoshikawa, Munechika Wakisaka, Fujikawa Atsuko, Hiroaki Kitagawa, Masayuki Takagi
Neonatal intussusception of the intestinal tract is rare. However, most neonatal intussusceptions have an organic lead point. For the lead point to be a neoplasm is extremely rare. We report a case that presented with neonatal intussusception with a congenital infantile fibrosarcoma as the lead point. The detection of ETV6-NTRK3 gene fusion was useful, although the definitive diagnosis was achieved by a comprehensive evaluation including this gene analysis, standard histology and immunohistochemistry. Neonatal intussusception should be suspected to be caused by a neoplasm...
November 1, 2017: Pathology International
https://www.readbyqxmd.com/read/29081930/mammary-analogue-secretory-carcinoma-of-salivary-glands-diagnostic-pitfall-with-distinct-immunohistochemical-profile-and-molecular-features
#11
Oliver Bissinger, Carolin Götz, Andreas Kolk, Henning A Bier, Abbas Agaimy, Henning Frenzel, Sven Perner, Julika Ribbat-Idel, Klaus Dietrich Wolff, Wilko Weichert, Caroline Mogler
Mammary analogue secretory carcinoma (MASC) is a newly defined entity among salivary gland malignancies which has just been established in the 4(th) edition of the WHO classification of head and neck tumors. MASC (synonym: secretory carcinoma) are characterized by a specific rearangement of the ETV6 gene locus. Here, we present a series of 3 MASC cases including clinical data with follow-up for up to 26 months. All tumours immunhistochemically displayed strong positivity for cytokeratin 7, and mammaglobin, focal positivity for S100, cytokeratin 5/6 and muc-4...
October 3, 2017: Rare Tumors
https://www.readbyqxmd.com/read/29076877/the-role-of-molecular-testing-in-the-differential-diagnosis-of-salivary-gland-carcinomas
#12
Alena Skálová, Göran Stenman, Roderick H W Simpson, Henrik Hellquist, David Slouka, Tomas Svoboda, Justin A Bishop, Jennifer L Hunt, Ken-Ichi Nibu, Alessandra Rinaldo, Vincent Vander Poorten, Kenneth O Devaney, Petr Steiner, Alfio Ferlito
Salivary gland neoplasms are a morphologically heterogenous group of lesions that are often diagnostically challenging. In recent years, considerable progress in salivary gland taxonomy has been reached by the discovery of tumor type-specific fusion oncogenes generated by chromosome translocations. This review describes the clinicopathologic features of a selected group of salivary gland carcinomas with a focus on their distinctive genomic characteristics. Mammary analog secretory carcinoma is a recently described entity characterized by a t(12;15)(p13;q25) translocation resulting in an ETV6-NTRK3 fusion...
October 26, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29076873/molecular-profiling-of-mammary-analog-secretory-carcinoma-revealed-a-subset-of-tumors-harboring-a-novel-etv6-ret-translocation-report-of-10-cases
#13
Alena Skalova, Tomas Vanecek, Petr Martinek, Ilan Weinreb, Todd M Stevens, Roderick H W Simpson, Martin Hyrcza, Niels J Rupp, Martina Baneckova, Michael Michal, David Slouka, Tomas Svoboda, Alena Metelkova, Arghavan Etebarian, Jaroslav Pavelka, Steven J Potts, Jason Christiansen, Petr Steiner, Michal Michal
ETV6 gene abnormalities are well described in tumor pathology. Many fusion partners of ETV6 have been reported in a variety of epithelial, mesenchymal, and hematological malignancies. In salivary gland tumor pathology, however, the ETV6-NTRK3 translocation is specific for (mammary analog) secretory carcinoma, and has not been documented in any other salivary tumor type. The present study comprised a clinical, histologic, and molecular analysis of 10 cases of secretory carcinoma, with typical morphology and immunoprofile harboring a novel ETV6-RET translocation...
October 26, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29064485/differential-impact-of-drugs-on-the-outcome-of-etv6-runx1-positive-childhood-b-cell-precursor-acute-lymphoblastic-leukaemia-results-of-the-eortc-clg-58881-and-58951-trials
#14
C Piette, S Suciu, E Clappier, Y Bertrand, S Drunat, S Girard, K Yakouben, G Plat, N Dastugue, F Mazingue, N Grardel, N van Roy, A Uyttebroeck, V Costa, O Minckes, N Sirvent, P Simon, P Lutz, A Ferster, C Pluchart, M Poirée, C Freycon, M-F Dresse, F Millot, C Chantrain, J van der Werff Ten Bosch, K Norga, C Gilotay, P-S Rohrlich, Y Benoit, H Cavé
No abstract text is available yet for this article.
September 19, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29046324/etv6-ntrk3-and-strn-alk-kinases-fusions-are-recurrent-events-in-papillary-thyroid-cancer-of-adult-population
#15
André U Bastos, Ana Carolina de Jesus, Janete Maria Cerutti
OBJECTIVE: PTC-specific analysis identified novel fusions involving RET, BRAF, NTRK1, NTRK3, AGK and ALK genes in adults and pediatric PTC. Although many novel fusions are PTC-specific event and, therefore, are ideal for diagnosis purposes, validation across additional and larger cohorts is essential for introducing these potential diagnostic or prognostic biomarkers into the clinical practice. As most of the BRAF, NTRK3 and ALK fusions were initially found in pediatric PTC or in more aggressive thyroid carcinomas, and there is a great disparity across population, in this study, we screened a large set of adult sporadic PTC cases for the most prevalent kinases fusion lately described in the TCGA...
October 18, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29034503/detection-of-a-new-heterozygous-germline-etv6-mutation-in-a-case-with-hyperdiploid-acute-lymphoblastic-leukemia-all
#16
Nicolas Duployez, Wadih Abou Chahla, Sophie Lejeune, Alice Marceau-Renaut, Guillaume Letizia, Thomas Boyer, Sandrine Geffroy, Pauline Peyrouze, Nathalie Grardel, Brigitte Nelken, Gérard Michel, Yves Bertrand, Claude Preudhomme
ETV6 is a target of recurrent aberrations in sporadic and familial acute lymphoblastic leukemia (ALL). Here, we report on a new pedigree with a germline ETV6 mutation in which the index patient and his father developed high-hyperdiploid (HeH)-ALL and polycythemia vera at age 13 and 51 respectively. The index patient achieved durable complete remission without transplantation but had persistent moderate thrombocytopenia without bleeding tendency. In order to determine the prevalence of ETV6 alterations in HeH-ALL, we screened 81 unrelated subjects with HeH-ALL by single nucleotide polymorphism-array and high-throughput sequencing for the ETV6 gene...
October 16, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29029492/gata2-regulates-the-erythropoietin-receptor-in-t-12-21-all
#17
Marie E Gaine, Daniel J Sharpe, James S Smith, Hilary A A Colyer, Vivien M Hodges, Terry R Lappin, Ken I Mills
The t(12;21) (p13;q22) chromosomal translocation resulting in the ETV6/RUNX1 fusion gene is the most frequent structural cytogenetic abnormality in children with acute lymphoblastic leukemia (ALL). The erythropoietin receptor (EPOR), usually associated with erythroid progenitor cells, is highly expressed in ETV6/RUNX1 positive cases compared to other B-lineage ALL subtypes. Gene expression analysis of a microarray database and direct quantitative analysis of patient samples revealed strong correlation between EPOR and GATA2 expression in ALL, and higher expression of GATA2 in t(12;21) patients...
September 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/29017678/mammary-analogue-secretory-carcinoma-of-parotid-gland-in-a-teenage-boy
#18
Humera Mahmood, Hadia Fatima, Mohammad Faheem
Mammary analogue secretory carcinoma (MASC) is a rare salivary gland malignancy that exhibits resemblance with secretory carcinoma of the breast (SC) due to the presence of ETV6-NTRK3 gene fusion, formerly classified as acinic cell carcinoma. It is a slowly growing painless tumor that exhibits wide range of clinical behavior. This tumor typically affects middle aged people. Less than 100 such cases have been reported in the literature so far with only 8 case reports of patients less than 19 years of age. Very little is known about the clinical management of such cases...
September 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28980201/sinonasal-secretory-carcinoma-of-salivary-gland-with-high-grade-transformation-a-case-report-of-this-under-recognized-diagnostic-entity-with-prognostic-and-therapeutic-implications
#19
Bin Xu, Ruth Aryeequaye, Lu Wang, Nora Katabi
Secretory carcinoma (SC) is a recently described salivary gland carcinoma with characteristic ETV6-NTRK3 fusion. In this case report, we described a SC of the maxillary sinus that underwent high grade transformation in a 61-year-old patient. The diagnosis was confirmed by the presence of ETV6 translocation. Within the sinonasal tract, SC is an important differential diagnosis especially of sinonasal adenocarcinoma, non-intestinal type (non-ITAC), as these two entities bears histologic and immunophenotypic similarity...
October 4, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28972594/ras-pathway-mutations-as-predictive-biomarker-for-treatment-adaptation-in-pediatric-b-cell-precursor-acute-lymphoblastic-leukemia
#20
I S Jerchel, A Q Hoogkamer, I M Ariës, E M P Steeghs, J M Boer, N J M Besselink, A Boeree, C van de Ven, H A de Groot-Kruseman, V de Haas, M A Horstmann, G Escherich, C M Zwaan, E Cuppen, M J Koudijs, R Pieters, M L den Boer
RAS pathway mutations have been linked to relapse and chemotherapy resistance in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL). However, comprehensive data on the frequency and prognostic value of subclonal mutations in well-defined subgroups using highly sensitive and quantitative methods is lacking. Targeted deep sequencing of 13 RAS-pathway genes was performed in 461 pediatric BCP-ALL cases at initial diagnosis and in 19 diagnosis-relapse pairs. Mutations were present in 44.2% of patients, with 24...
October 3, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
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