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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
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
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
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...
October 13, 2016: Cancer Letters
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
Naoki Mori, Mari Ohwashi-Miyazaki, Michiko Okada, Kentaro Yoshinaga, Masayuki Shiseki, Junji Tanaka
No abstract text is available yet for this article.
October 7, 2016: Acta Haematologica
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
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
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
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
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
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
Farzaneh Ghazavi, Barbara De Moerloose, Wouter Van Loocke, Annelynn Wallaert, Hetty H Helsmoortel, Alina Ferster, Marleen Bakkus, Geneviève Plat, Eric Delabesse, Anne Uyttebroeck, Filip Van Nieuwerburgh, Dieter Deforce, Nadine Van Roy, Frank Speleman, Yves Benoit, Tim Lammens, Pieter Van Vlierberghe
Overwhelming evidence indicates that long non-coding RNAs have essential roles in tumorigenesis. Nevertheless, their role in the molecular pathogenesis of pediatric B-cell precursor acute lymphoblastic leukemia has not been extensively explored. Here, we conducted a comprehensive analysis of the long non-coding RNA transcriptome in ETV6/RUNX1-positive BCP-ALL, one of the most frequent subtypes of pediatric leukemia. First, we used primary leukemia patient samples to identify an ETV6/RUNX1 specific expression signature consisting of 596 lncRNA transcripts...
September 16, 2016: Oncotarget
Aaron P Rupp, Thèrése J Bocklage
Mammary analog secretory carcinoma (MASC) is a recently described rare neoplasm that was first reported in the salivary gland with an associated ETV6-NTRK3 fusion. We present a case of MASC involving and presumably arising in the thyroid, which was originally diagnosed as papillary thyroid carcinoma on fine needle aspiration and surgical resection. The later correct diagnosis of MASC was confirmed by immunohistochemistry and molecular studies. The cytopathological features of MASC in the salivary gland are previously described; however, we present the first cytopathological description of MASC arising in the thyroid with the unique feature of prominent nuclear grooves...
September 15, 2016: Diagnostic Cytopathology
Ariz Akhter, Muhammad Kashif Mughal, Ghaleb Elyamany, Gary Sinclair, Raja Zahratul Azma, Noraidah Masir, Salwati Shuib, Fariborz Rashid-Kolvear, Meer-Taher Shabani-Rad, Douglas Allan Stewart, Adnan Mansoor
BACKGROUND: The World Health Organization (WHO) classification system defines recurrent chromosomal translocations as the sole diagnostic and prognostic criteria for acute leukemia (AL). These fusion transcripts are pivotal in the pathogenesis of AL. Clinical laboratories universally employ conventional karyotype/FISH to detect these chromosomal translocations, which is complex, labour intensive and lacks multiplexing capacity. Hence, it is imperative to explore and evaluate some newer automated, cost-efficient multiplexed technologies to accommodate the expanding genetic landscape in AL...
2016: Diagnostic Pathology
Justin A Bishop, Janis M Taube, Albert Su, Scott W Binder, Dmitry V Kazakov, Michal Michal, William H Westra
Mammary analogue secretory carcinoma is a low-grade salivary gland carcinoma that exhibits analogous features to secretory carcinoma of the breast including the presence of a t(12;15) translocation resulting in the ETV6-NTRK3 gene fusion. Rare cases of purported secretory carcinoma of the skin adnexa have been reported, but their relationship to true secretory carcinoma of the breast and salivary glands is unclear, as they generally do not harbor ETV6 rearrangements. Cases of cutaneous neoplasms with histologic features identical to secretory carcinoma of the breast and salivary glands were identified from the consultation files of 3 academic medical institutions...
September 14, 2016: American Journal of Surgical Pathology
Susanna Teppo, Saara Laukkanen, Thomas Liuksiala, Jessica Nordlund, Mikko Oittinen, Kaisa Teittinen, Toni Grönroos, Pascal St-Onge, Daniel Sinnett, Ann-Christine Syvänen, Matti Nykter, Keijo Viiri, Merja Heinäniemi, Olli Lohi
Approximately 20%-25% of childhood acute lymphoblastic leukemias carry the ETV6-RUNX1 (E/R) fusion gene, a fusion of two central hematopoietic transcription factors, ETV6 (TEL) and RUNX1 (AML1). Despite its prevalence, the exact genomic targets of E/R have remained elusive. We evaluated gene loci and enhancers targeted by E/R genome-wide in precursor B acute leukemia cells using global run-on sequencing (GRO-seq). We show that expression of the E/R fusion leads to widespread repression of RUNX1 motif-containing enhancers at its target gene loci...
September 12, 2016: Genome Research
Dongfeng Chen, Junxiong Zheng, Natalija Gerasimcik, Kristina Lagerstedt, Helene Sjögren, Jonas Abrahamsson, Linda Fogelstrand, Inga-Lill Mårtensson
Precursor-B cell receptor (pre-BCR) signaling represents a crucial checkpoint at the pre-B cell stage. Aberrant pre-BCR signaling is considered as a key factor for B-cell precursor acute lymphoblastic leukemia (BCP-ALL) development. BCP-ALL are believed to be arrested at the pre-BCR checkpoint independent of pre-BCR expression. However, the cellular stage at which BCP-ALL are arrested and whether this relates to expression of the pre-BCR components (IGHM, IGLL1 and VPREB1) is still unclear. Here, we show differential protein expression and copy number variation (CNV) patterns of the pre-BCR components in pediatric BCP-ALL...
2016: PloS One
Ashwin Unnikrishnan, Yi F Guan, Yizhou Huang, Dominik Beck, Julie A I Thoms, Sofie Peirs, Kathy Knezevic, Shiyong Ma, Inge V de Walle, Ineke de Jong, Zara Ali, Ling Zhong, Mark J Raftery, Tom Taghon, Jonas Larsson, Karen L MacKenzie, Pieter V Vlierberghe, Jason W H Wong, John E Pimanda
Aberrant stem cell-like gene regulatory networks are a feature of leukaemogenesis. The ETS-related gene (ERG), an important regulator of normal haematopoiesis, is also highly expressed in T-ALL and acute myeloid leukaemia (AML). However, the transcriptional regulation of ERG in leukaemic cells remains poorly understood. In order to discover transcriptional regulators of ERG, we employed a quantitative mass spectrometry-based method to identify factors binding the 321 bp ERG +85 stem cell enhancer region in MOLT-4 T-ALL and KG-1 AML cells...
September 6, 2016: Nucleic Acids Research
Victor Angelo Martins Montalli, Fabricio Passador-Santos, Elizabeth Ferreira Martinez, Cristiane Furuse, Maria Cássia Aguiar, Fernando Augusto Soares, Andresa Borges Soares, Amy Louise Brown, Ney Soares de Araújo, Vera Cavalcanti de Araújo
BACKGROUND: Polymorphous low-grade adenocarcinoma (PLGA) remains a diagnostic challenge for most pathologists due to its large spectrum of histological patterns. In this study, the expression of two new markers recently described for salivary gland tumors was studied in PLGA. METHODS: The morphology of 33 cases of PLGA was carefully evaluated using hematoxylin-and-eosin-stained sections and confirmed by immunohistochemistry for cytokeratin 7, vimentin, and S-100...
September 3, 2016: Journal of Oral Pathology & Medicine
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