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https://www.readbyqxmd.com/read/28338652/3q26-2-evi1-rearrangement-is-associated-with-poor-prognosis-in-classical-philadelphia-chromosome-negative-myeloproliferative-neoplasms
#1
Zhihong Hu, L Jeffrey Medeiros, Wei Wang, Zi Chen, Guilin Tang, Parsa Hodjat, Su Yang, Lianghua Fang, Yan Li, Srdan Verstovsek, Shimin Hu
Classical Philadelphia chromosome-negative myeloproliferative neoplasms are a group of closely related myeloid disorders with different histologic features and clinical presentations at an early stage, but all later develop into a similar fibrotic stage with variable risk of acute transformation. The significance of 3q26.2/EVI1 rearrangement has been well recognized in acute myeloid leukemia, myelodysplastic syndrome, and chronic myeloid leukemia. However, the clinical importance of 3q26.2/EVI1 rearrangement in classical Philadelphia chromosome-negative myeloproliferative neoplasms is unknown...
March 24, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28324772/new-proposals-of-the-who-working-group-2016-for-the-diagnosis-of-myelodysplastic-syndromes-mds-characteristics-of-refined-mds-types
#2
Corinna Strupp, Kathrin Nachtkamp, Barbara Hildebrandt, Aristoteles Giagounidis, Rainer Haas, Norbert Gattermann, John M Bennett, Carlo Aul, Ulrich Germing
Based on centrally diagnosed 3528 patients in the Düsseldorf registry, we validated the new proposals for the classification of the MDS by the WHO working group: 256 patients were diagnosed as MDSSLD (7,3%), 978 MDSMLD (27,7%), 227 MDS RS SLD (6,4%); 321 MDS RS MLD (9,1%), 159 MDS del(5q) (4,5%), 481 MDSEB 1 (13,6%), 620 MDSEB 2 (17,6%), and 148 MDS-U (4,2%). 352 patients (16,9% of the non blastic types) changed the category, mainly moving from RCMD to MDS RS MLD, RCUD and RCMD to MDS del(5q). Median survival times of the refined groups differed from more than 60 months in the MDSSLD (RS) groups, 37 months in the MDSMLD (RS) groups, 79 months of the MDS del(5q) group and 21 and 11 months in the MDSEB 1 and 2 groups, respectively...
February 27, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28294297/cryptic-5q-deletion-in-a-patient-with-myelodysplastic-syndrome
#3
Ruth Medlock, Sharon Barrans, Catherine Cargo, Richard Kelly
No abstract text is available yet for this article.
March 14, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28282546/overexpression-of-the-a-disintegrin-and-metalloproteinase-adam15-is-linked-to-a-small-but-highly-aggressive-subset-of-prostate-cancers
#4
Christoph Burdelski, Michael Fitzner, Claudia Hube-Magg, Martina Kluth, Asmus Heumann, Ronald Simon, Till Krech, Till Clauditz, Franziska Büscheck, Stefan Steurer, Corinna Wittmer, Andrea Hinsch, Andreas M Luebke, Frank Jacobsen, Sarah Minner, Maria Christina Tsourlakis, Burkhard Beyer, Thomas Steuber, Imke Thederan, Guido Sauter, Jakob Izbicki, Thorsten Schlomm, Waldemar Wilczak
The A Disintegrin and Metalloproteinase (ADAM) family of endopeptidases plays a role in many solid cancers and includes promising targets for anticancer therapies. Deregulation of ADAM15 has been linked to tumor aggressiveness and cell line studies suggest that ADAM15 overexpression may also be implicated in prostate cancer. To evaluate the impact of ADAM15 expression and its relationship with key genomic alterations, a tissue microarray containing 12,427 prostate cancers was analyzed by immunohistochemistry...
March 7, 2017: Neoplasia: An International Journal for Oncology Research
https://www.readbyqxmd.com/read/28281318/intracranial-myxoid-mesenchymal-tumors-with-ewsr1-creb-family-gene-fusions-myxoid-variant-of-angiomatoid-fibrous-histiocytoma-or-novel-entity
#5
Tejus A Bale, Angelica Oviedo, Harry Kozakewich, Caterina Giannini, Phani K Davineni, Keith Ligon, Sanda Alexandrescu
BACKGROUND: Intracranial myxoid mesenchymal tumor harboring EWSR1 fusions with CREB family of genes was recently described, and it resembles the myxoid variant of angiomatoid fibrous histiocytoma. We present 3 pediatric patients with intracranial EWSR1-rearranged myxoid mesenchymal neoplasm and provide a molecular genetic characterization of these tumors. METHODS: Clinical histories and imaging results were reviewed. Histology, immunohistochemistry, EWSR1, FUS, NR4A3 fluorescence in situ hybridization (FISH), and next generation sequencing (NGS) were performed...
March 9, 2017: Brain Pathology
https://www.readbyqxmd.com/read/28279041/-clinical-analyses-of-50-cases-of-myelodysplastic-syndrome-with-deletion-of-chromosome-5q
#6
Y He, X Du, J Y Weng, C X Deng, S X Geng, Z S Lu, M M Li, P J Liao, C W Luo, S J Wu, L Y Zhong
No abstract text is available yet for this article.
February 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/28278708/myelodysplastic-syndrome-with-concomitant-del-5q-and-jak2-v617f-mutation-transformed-to-acute-myeloid-leukemia-with-an-additional-chromosomal-abnormality-after-a-long-term-treatment-with-lenalidomide
#7
https://www.readbyqxmd.com/read/28261852/acute-leukemia-with-a-pure-erythroid-phenotype-underrecognized-morphologic-and-cytogenetic-signatures-universally-associated-with-primary-refractory-disease-and-a-dismal-clinical-outcome
#8
David C Park, Neval Ozkaya, Scott B Lovitch
AIMS: Pure erythroid leukemia (PEL) is a very rare and aggressive subtype of acute myeloid leukemia defined by the World Health Organization (WHO) as a neoplastic proliferation of immature cells committed exclusively to the erythroid lineage comprising >80% of bone marrow cells and not meeting criteria of other well-defined myeloid neoplasms. The aim of this study was to describe the clinicopathologic features of acute leukemias with a pure erythroid phenotype (ALPEP) irrespective of their WHO classification and determine if ALPEP represents a distinct clinicopathologic entity...
March 6, 2017: Histopathology
https://www.readbyqxmd.com/read/28260960/clinical-hematological-and-cytogenetic-profile-of-adult-myelodysplastic-syndrome-in-a-tertiary-care-center
#9
Santhosh Narayanan
BACKGROUND: Myelodysplastic syndrome (MDS), a disorder of clonal hematopoiesis, is an important clinical entity, but most of the studies available are conducted among the Western population. Its etiological factors and clinicohematological profile in the Indian population are quite diverse. The information regarding its prognostic factors and cytogenetics is very scarce. OBJECTIVES: (1) To assess the clinicohematological profile, cytogenetics, prognostic factors, and outcome of MDS and (2) to study its progression to acute myeloid leukemia (AML) in the selected patients over the study period...
2017: Journal of Blood Medicine
https://www.readbyqxmd.com/read/28242813/versican-promotes-tumor-progression-metastasis-and-predicts-poor-prognosis-in-renal-carcinoma
#10
Yozo Mitsui, Hiroaki Shiina, Taku Kato, Shigekatsu Maekawa, Yutaka Hashimoto, Marisa Shiina, Mitsuho Imai-Sumida, Priyanka Kulkarni, Pritha Dasgupta, Ryan Kenji Wong, Miho Hiraki, Naoko Arichi, Shinichiro Fukuhara, Soichiro Yamamura, Shahana Majid, Sharanjot Saini, Guoren Deng, Rajvir Dahiya, Koichi Nakajima, Yuichiro Tanaka
The proteoglycan versican (VCAN) promotes tumor progression and enhances metastasis in several cancers; however, its role in clear cell renal cell carcinoma (ccRCC) remains unknown. Recent evidence suggests that VCAN is an important target of chromosomal 5q gain, one of the most prevalent genetic abnormalities in ccRCC. Thus, we investigated whether VCAN expression is associated with the pathogenesis of ccRCC. VCAN expression was analyzed using three RCC and normal kidney cell lines as well as a clinical cohort of 84 matched ccRCC and normal renal tissues...
February 27, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28240607/downregulation-of-gata1-drives-impaired-hematopoiesis-in-primary-myelofibrosis
#11
Laure Gilles, Ahmet Dirim Arslan, Christian Marinaccio, Qiang Jeremy Wen, Priyanka Arya, Maureen McNulty, Qiong Yang, Jonathan C Zhao, Katerina Konstantinoff, Terra Lasho, Animesh Pardanani, Brady Stein, Isabelle Plo, Sriram Sundaravel, Amittha Wickrema, Annarita Migliaccio, Sandeep Gurbuxani, William Vainchenker, Leonidas C Platanias, Ayalew Tefferi, John D Crispino
Primary myelofibrosis (PMF) is a clonal hematologic malignancy characterized by BM fibrosis, extramedullary hematopoiesis, circulating CD34+ cells, splenomegaly, and a propensity to evolve to acute myeloid leukemia. Moreover, the spleen and BM of patients harbor atypical, clustered megakaryocytes, which contribute to the disease by secreting profibrotic cytokines. Here, we have revealed that megakaryocytes in PMF show impaired maturation that is associated with reduced GATA1 protein. In investigating the cause of GATA1 downregulation, our gene-expression study revealed the presence of the RPS14-deficient gene signature, which is associated with defective ribosomal protein function and linked to the erythroid lineage in 5q deletion myelodysplastic syndrome...
February 27, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28212566/genetic-characterization-of-polish-ccrcc-patients-somatic-mutation-analysis-of-pbrm1-bap1-and-kdmc5-genomic-snp-array-analysis-in-tumor-biopsy-and-preliminary-results-of-chromosome-aberrations-analysis-in-plasma-cell-free-dna
#12
Katarzyna Kluzek, Malgorzata I Srebniak, Weronika Majer, Agnieszka Ida, Tomasz Milecki, Kinga Huminska, Robert M van der Helm, Adrian Silesian, Tomasz M Wrzesinski, Jacek Wojciechowicz, Berna H Beverloo, Zbigniew Kwias, Hans A R Bluyssen, Joanna Wesoly
BACKGROUND: Mutation analysis and cytogenetic testing in clear cell renal cell carcinoma (ccRCC) is not yet implemented in a routine diagnostics of ccRCC. MATERIAL AND METHODS: We characterized the chromosomal alterations in 83 ccRCC tumors from Polish patients using whole genome SNP genotyping assay. Moreover, the utility of next generation sequencing of cell free DNA (cfDNA) in patients plasma as a potential tool for non-invasive cytogenetic analysis was tested...
February 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28194057/clinical-characteristics-and-prognosis-of-167-cases-of-acute-erythroleukemia
#13
Zhi-Qiang Ma, Ji-Hong Pan, Da-Xin Jing, Chong-Yan Xu
To observe the biological characteristic and the prognoses in patients with acute erythroleukemia (AEL). The results of 167 patients with newly diagnosed AEL, from January 2004 and June 2014 in the department of Hematology, Shandong Province Chinese Medicine Hospital, were reviewed by morphology, immunology, cytogenetics, molecular biology. Flow cytometry analysis indicated that CD13 (96.1 %), CD33 (95.1 %), CD117 (87.4 %) and CD34 (79.4 %) were highly expressed in AEL. 56 of 148 (37.8 %) AEL patients had a variety of cytogenetic abnormalities, 27 of 148 (18...
March 2017: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/28192601/lenalidomide-use-in-myelodysplastic-syndromes-insights-into-the-biologic-mechanisms-and-clinical-applications
#14
REVIEW
Maximilian Stahl, Amer M Zeidan
Myelosysplastic syndromes (MDS) include a heterogeneous group of clonal myeloid neoplasms characterized by ineffective hematopoiesis leading to blood cytopenias and a variable risk of progression into acute myeloid leukemia (AML). Although the hypomethylating agent azacitidine prolongs survival among patients with higher risk (HR)-MDS compared with conventional care, no drug has been shown conclusively to prolong survival or delay progression to AML among patients with lower-risk MDS (LR-MDS). Lenalidomide is the drug with the most impressive clinical activity in the subset of anemic LR-MDS patients who harbor a deletion of the long arm of chromosome 5 (5q-), where it leads to high rates of transfusion independence and cytogenetic responses...
February 13, 2017: Cancer
https://www.readbyqxmd.com/read/28184031/outcome-of-patients-treated-for-myelodysplastic-syndromes-without-deletion-5q-after-failure-of-lenalidomide-therapy
#15
Thomas Prebet, Andrea Toma, Thomas Cluzeau, Mikkael A Sekeres, Norbert Vey, Sophie Park, Najla Al Ali, Marie M Sugrue, Rami Komrokji, Pierre Fenaux, Steven D Gore
Anemia is a key survival prognostic factor in lower-risk myelodysplastic syndromes (MDS). Lenalidomide (LEN) can correct anemia in 25% of MDS patients without deletion 5q (del5q). As this therapy will inevitably fail, understanding the outcome of these patients will facilitate development of subsequent treatment strategies. To answer this question, an international retrospective study focused on LEN-treated lower-risk, non-del5q, MDS patients was performed. We analyzed the overall survival after LEN failure, its prognostic factors and the impact of post LEN treatment options...
February 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28178280/knockdown-of-hspa9-induces-tp53-dependent-apoptosis-in-human-hematopoietic-progenitor-cells
#16
Tuoen Liu, Kilannin Krysiak, Cara Lunn Shirai, Sanghyun Kim, Jin Shao, Matthew Ndonwi, Matthew J Walter
Myelodysplastic syndromes (MDS) are the most common adult myeloid blood cancers in the US. Patients have increased apoptosis in their bone marrow cells leading to low peripheral blood counts. The full complement of gene mutations that contribute to increased apoptosis in MDS remains unknown. Up to 25% of MDS patients harbor and acquired interstitial deletion on the long arm of chromosome 5 [del(5q)], creating haploinsufficiency for a large set of genes including HSPA9. Knockdown of HSPA9 in primary human CD34+ hematopoietic progenitor cells significantly inhibits growth and increases apoptosis...
2017: PloS One
https://www.readbyqxmd.com/read/28146062/high-level-%C3%AE-glutamyl-hydrolase-ggh-expression-is-linked-to-poor-prognosis-in-erg-negative-prostate-cancer
#17
Nathaniel Melling, Masoud Rashed, Cornelia Schroeder, Claudia Hube-Magg, Martina Kluth, Dagmar Lang, Ronald Simon, Christina Möller-Koop, Stefan Steurer, Guido Sauter, Frank Jacobsen, Franziska Büscheck, Corinna Wittmer, Till Clauditz, Till Krech, Maria Christina Tsourlakis, Sarah Minner, Hartwig Huland, Markus Graefen, Lars Budäus, Imke Thederan, Georg Salomon, Thorsten Schlomm, Waldemar Wilczak
γ-glutamyl-hydrolase (GGH) is a ubiquitously-expressed enzyme that regulates intracellular folate metabolism for cell proliferation, DNA synthesis, and repair. Employing GGH immunohistochemistry on a tissue microarray with 12,427 prostate cancers, we found that GGH expression was negative to low in normal prostate epithelium, whereas 88.3% of our 10,562 interpretable cancers showed GGH expression. GGH staining was considered as low intensity in 49.6% and as high intensity in 38.6% of cancers. High GGH expression was linked to the TMPRSS2:ERG-fusion positive subset of cancers (p < 0...
January 29, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28102719/pregnancy-and-delivery-in-women-with-spinal-muscular-atrophy
#18
Bakri H Elsheikh, Xiaoli Zhang, Kathryn J Swoboda, Sharon Chelnick, Sandra P Reyna, Stephen J Kolb, John T Kissel
OBJECTIVES: To expand the limited available knowledge about pregnancy and delivery in women with spinal muscular atrophy (SMA) using a cohort of genetically proven SMA patients from USA. METHODS: This was a cross-sectional questionnaire-based study. We mailed questionnaires to 58 women with confirmed SMA. RESULTS: Thirty-two women responded, reporting 35 pregnancies, including 19 women with at least one pregnancy. In this cohort, preterm labor and delivery by cesarean section were more common in mothers with SMA particularly SMA type 2...
February 5, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28100265/allogeneic-stem-cell-transplantation-in-adult-patients-with-acute-myeloid-leukaemia-and-17p-abnormalities-in-first-complete-remission-a-study-from-the-acute-leukemia-working-party-alwp-of-the-european-society-for-blood-and-marrow-transplantation-ebmt
#19
Xavier Poiré, Myriam Labopin, Johan Maertens, Ibrahim Yakoub-Agha, Didier Blaise, Norbert Ifrah, Gérard Socié, Tobias Gedde-Dhal, Nicolaas Schaap, Jan J Cornelissen, Stéphane Vigouroux, Jaime Sanz, Lucienne Michaux, Jordi Esteve, Mohamad Mohty, Arnon Nagler
BACKGROUND: Acute myeloid leukaemia (AML) with 17p abnormalities (abn(17p)) carries a very poor prognosis due to high refractoriness to conventional chemotherapy, and allogeneic stem cell transplantation (allo-SCT) appears as the only potential curative option. METHODS: To address outcomes after allo-SCT in patients with abn(17p), we retrospectively analysed de novo or secondary AML undergoing SCT between 2000 and 2013 from the EBMT registry. RESULTS: One hundred thirty-nine patients with confirmed abn(17p) have been selected...
January 18, 2017: Journal of Hematology & Oncology
https://www.readbyqxmd.com/read/28081176/radiation-induced-apoptosis-of-murine-bone-marrow-cells-is-independent-of-early-growth-response-1-egr1
#20
Karine Z Oben, Beth W Gachuki, Sara S Alhakeem, Mary K McKenna, Ying Liang, Daret K St Clair, Vivek M Rangnekar, Subbarao Bondada
An understanding of how each individual 5q chromosome critical deleted region (CDR) gene contributes to malignant transformation would foster the development of much needed targeted therapies for the treatment of therapy related myeloid neoplasms (t-MNs). Early Growth Response 1 (EGR1) is a key transcriptional regulator of myeloid differentiation located within the 5q chromosome CDR that has been shown to regulate HSC (hematopoietic stem cell) quiescence as well as the master regulator of apoptosis-p53. Since resistance to apoptosis is a hallmark of malignant transformation, we investigated the role of EGR1 in apoptosis of bone marrow cells; a cell population from which myeloid malignancies arise...
2017: PloS One
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