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https://www.readbyqxmd.com/read/29025586/prognostic-classification-of-mds-is-improved-by-the-inclusion-of-fish-panel-testing-with-conventional-cytogenetics
#1
Prajakta Kokate, Rupa Dalvi, Neeraja Koppaka, Swarna Mandava
Cytogenetics is a critical independent prognostic factor in myelodysplastic syndromes (MDS). Conventional cytogenetics (CC) and Fluorescence in situ hybridization (FISH) Panel Testing are extensively used for the prognostic stratification of MDS, although the FISH test is not yet a bona fide component of the International Prognostic Scoring System (IPSS). The present study compares the utility of CC and FISH to detect chromosomal anomalies and in prognostic categorization. GTG-Banding and FISH Panel Testing specifically for -5/-5q, -7/-7q, +8 and -20q was performed on whole blood or bone marrow samples from 136 patients with MDS...
October 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28989590/cytogenetic-abnormalities-in-myelodysplastic-syndromes-an-overview
#2
REVIEW
Mohammad Faizan Zahid, Umair Arshad Malik, Momena Sohail, Irfan Nazir Hassan, Sara Ali, Muhammad Hamza Saad Shaukat
Karyotype is one of the main constituents of the International Prognostic Scoring System (IPSS) and revised-IPSS that are the cornerstones for the prognostication of patients with myelodysplastic syndromes (MDS). Del(5q), -7/del(7q), +8 and -Y are among the most extensively studied cytogenetic abnormalities in MDS. The same applies for normal karyotype. There are hundreds of other rare cytogenetic abnormalities that have been reported in MDS, included but not limited to -X, 3q abnormalities, +13/del(13q), i(17q), +21/-21...
July 1, 2017: International Journal of Hematology-oncology and Stem Cell Research
https://www.readbyqxmd.com/read/28983837/treatment-advances-in-spinal-muscular-atrophy
#3
REVIEW
Diana Bharucha-Goebel, Petra Kaufmann
PURPOSE OF REVIEW: Spinal muscular atrophy (SMA) is a genetic disorder of motor neurons in the anterior horns of the spinal cord and brainstem that results in muscle atrophy and weakness. SMA is an autosomal recessive disease linked to deletions of the SMN1 gene on chromosome 5q. Humans have a duplicate gene (SMN2) whose product can mitigate disease severity, leading to the variability in severity and age of onset of disease, and is therefore a target for drug development. RECENT FINDINGS: Advances in preclinical and clinical trials have paved the way for novel therapeutic options for SMA patients, including many currently in clinical trials...
October 6, 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28983059/pro-inflammatory-proteins-s100a9-and-tnf%C3%AE-suppress-erythropoietin-elaboration-in-myelodysplastic-syndromes
#4
Thomas Cluzeau, Kathy L McGraw, Brittany Irvine, Erico Masala, Lionel Ades, Ashley A Basiorka, Jaroslaw P Maciejewski, Patrick Auberger, Sheng Wei, Pierre Fenaux, Valeria Santini, Alan List
Accumulating evidence implicates innate immune activation in the pathobiology of myelodysplastic syndromes. A key myeloid related inflammatory protein, S100A9, serves as a Toll-like receptor ligand regulating TNFα and IL-1β production. The role of MDS-related inflammatory proteins in endogenous Epo regulation and response to erythroid stimulating agents or lenalidomide has not been investigated. The HepG2 hepatoma cell line was used to investigate in vitro Epo elaboration. Serum collected from 311 MDS patients were investigated (125 prior to erythroid stimulating agents and 186 prior to lenalidomide)...
October 5, 2017: Haematologica
https://www.readbyqxmd.com/read/28982058/transcriptome-analysis-of-cd34-cells-from-myelodysplastic-syndrome-patients
#5
Ruiming Ou, Jing Huang, Huijuan Shen, Zhi Liu, Yangmin Zhu, Qi Zhong, Liling Zheng, Mengdong Yao, Yanling She, Shanyao Zhou, Rui Chen, Cheng Li, Qing Zhang, Shuang Liu
The myelodysplastic syndrome (MDS) represents a heterogeneous group of clonal hematologic stem cell disorders with the characteristic of ineffective hematopoiesis leading to low blood counts, and a risk of progression to acute myeloid leukemia (AML). To understand specific molecular characteristics of different MDS subtypes with del(5q), we analyzed the gene expression profiles of CD34+ cells from MDS patients of different databases and its enriched pathways. 44 genes, such as MME and RAG1, and eight related pathways were identified to be commonly changed, indicating their conserved roles in MDS development...
September 8, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28978836/mds-recent-progress-in-molecular-pathogenesis-and-clinical-aspects
#6
Hironori Harada
Myelodysplastic syndromes (MDS) are defined as hematopoietic stem cell disorders caused by various gene abnormalities. Recent analysis using next generation sequencing has provided great progress in identifying relationships between gene mutations and clinical phenotypes of MDS. It is estimated that one or more gene mutations occur in greater than 90% of MDS patients. More than 50 gene mutations affecting RNA splicing machinery, DNA methylation, histone modifications, transcription factors, signal transduction proteins, and components of the cohesion complex participate in the pathogenesis of MDS...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28972593/lenalidomide-mediated-erythroid-improvement-in-non-del-5q-myelodysplastic-syndromes-is-associated-with-bone-marrow-immuno-remodeling
#7
G Kerdivel, V Chesnais, E Becht, A Toma, N Cagnard, F Dumont, A Rousseau, P Fenaux, S Chevret, N Chapuis, V Boeva, W H Fridman, M Fontenay, O Kosmider
Leukemia accepted article preview online, 03 October 2017. doi:10.1038/leu.2017.305.
October 3, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28970249/nuclear-translocation-of-pkc-%C3%AE-is-associated-with-cell-cycle-arrest-and-erythroid-differentiation-in-myelodysplastic-syndromes-mdss
#8
Alessandro Poli, Stefano Ratti, Carlo Finelli, Sara Mongiorgi, Cristina Clissa, Annalisa Lonetti, Alessandra Cappellini, Alessia Catozzi, Marilena Barraco, Pann-Ghill Suh, Lucia Manzoli, James A McCubrey, Lucio Cocco, Matilde Y Follo
PI-PLCβ1 is involved in cell proliferation, differentiation, and myelodysplastic syndrome (MDS) pathogenesis. Moreover, the increased activity of PI-PLCβ1 reduces the expression of PKC-α, which, in turn, delays the cell proliferation and is linked to erythropoiesis. Lenalidomide is currently used in low-risk patients with MDS and del(5q), where it can suppress the del(5q) clone and restore normal erythropoiesis. In this study, we analyzed the effect of lenalidomide on 16 patients with low-risk del(5q) MDS, as well as del(5q) and non-del(5q) hematopoietic cell lines, mainly focusing on erythropoiesis, cell cycle, and PI-PLCβ1/PKC-α signaling...
September 25, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28958290/lenalidomide-myelodysplastic-syndromes-with-del-5q-and-beyond
#9
REVIEW
Chetasi Talati, David Sallman, Alan List
Myelodysplastic syndrome (MDS) with deletion 5q (del(5q)) is a distinct clinical and pathological disease subset that is exquisitely sensitive to lenalidomide for the treatment of red blood cell transfusion-dependent anemia. Although lenalidomide has erythropoeitic promoting activity in MDS without del(5q) (non-del(5q) MDS), the frequency of response to treatment is lower and relates to biologically separate drug effects. In del(5q) MDS, lenalidomide suppresses the malignant clone to restore effective erythropoiesis by virtue of synthetic lethality, arising from cereblon-dependent degradation of haplodeficient proteins encoded within the commonly deleted region of the chromosome 5q deletion...
July 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28940816/clinical-impact-of-kmt2c-and-spry4-expression-levels-in-intensively-treated-younger-adult-acute-myeloid-leukemia-patients
#10
Sabine Kayser, Maximilian Feszler, Julia Krzykalla, Matthias Schick, Michael Kramer, Axel Benner, Felicitas Thol, Uwe Platzbecker, Carsten Müller-Tidow, Anthony D Ho, Gerhard Ehninger, Michael Heuser, Richard F Schlenk, Christian Thiede, Christoph Röllig, Alwin Krämer
OBJECTIVE: To evaluate the prognostic impact of gene expression levels (ELs) of two tumor suppressor genes, sprouty 4 (SPRY4, located on 5q) and lysine methyltransferase 2C (KMT2C, located on 7q) in correlation to clinical characteristics and genetic abnormalities assessed at initial diagnosis in acute myeloid leukemia (AML). METHOD: Gene expression levels were measured on cDNA by RT-qPCR from diagnostic bone marrow samples of 275 intensively treated adult AML patients (median age, 48 years)...
September 22, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28939236/percutaneous-vertebroplasty-versus-conservative-treatment-for-osteoporotic-vertebral-compression-fractures-an-updated-meta-analysis-of-prospective-randomized-controlled-trials
#11
REVIEW
Lin Xie, Zhi-Gang Zhao, Shu-Jun Zhang, Ya-Bin Hu
BACKGROUND: This meta-analysis of Randomized Controlled Trials (RCTs) aims to evaluate the efficacy and safety in percutaneous vertebroplasty (PVP) and conservative treatment (CT) for osteoporotic vertebral compression fractures (OVCFs). METHODS: The authors searched RCTs in electronic databases (Cochrane Central Register of Controlled Trials, PubMed, EMBASE, Medline, Embase, Springer Link, Web of Knowledge, OVID and Google Scholar) in a timeframe from their establishment to Feb 2017...
September 20, 2017: International Journal of Surgery
https://www.readbyqxmd.com/read/28894557/clinico-pathological-spectrum-and-novel-karyotypic-findings-in-myelodysplastic-syndrome-experience-of-tertiary-care-center-in-india
#12
Ruchi Gupta, Khaliqur Rahman, Manish Kumar Singh, Surabhi Kumari, Geeta Yadav, Soniya Nityanand
BACKGROUND: Myelodysplastic syndrome (MDS) is a heterogeneous disorder characterized clinically by the presence of cytopenia/s. Limited data are available about the morphological spectrum and cytogenetic profile of Indian MDS patients. The aim of the study was to ascertain the clinico-pathological, morphological and cytogenetic spectrum of Indian MDS patients. MATERIAL AND METHODS: A retrospective analysis of all patients diagnosed with MDS from June 2012 to December 2016 was performed...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28879716/concomitant-occurrence-of-blastic-plasmacytoid-dendritic-cell-neoplasm-and-acute-myeloid-leukaemia-after-lenalidomide-treatment-for
#13
Nicola S Fracchiolla, Alessanda Iurlo, Valeria Ferla, Bruno Fattizzo, Alessandra Freyrie, Gianluigi Reda, Agostino Cortelezzi
BACKGROUND: Myelodysplastic syndromes with chromosome 5 long arm deletion (5q-mds) may benefit from lenalidomide treatment. However, unresponsive patients have a high risk for clonal evolution and progression to acute myeloid leukemia. Case: We describe a 5q-patient treated with lenalidomide, who concomitantly developed acute myeloid leukemia and blastic plasmacytoid dendritic cell neoplasm, a rare and highly aggressive lymphoma. CONCLUSIONS: Evolution of 5q- syndrome to acute myeloid leukemia and blastic plasmacytoid dendritic cell neoplasm may have occurred through various mechanisms, including persistence of neoplastic lenalidomide-resistant stem cells and selection of a more aggressive clone via lenalidomide augmentation of the ARPC1B gene, or because of lenalidomide stimulation on dendritic cells...
September 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28836866/prospective-randomized-trial-of-5-days-azacitidine-versus-supportive-care-in-patients-with-lower-risk-myelodysplastic-syndromes-without-5q-deletion-and-transfusion-dependent-anemia
#14
Joaquin Sanchez-Garcia, Jose Falantes, Angeles Medina Perez, Francisca Hernandez-Mohedo, Lourdes Hermosin, Angeles Torres-Sabariego, Alicia Bailen, Jesus M Hernandez-Sanchez, María Solé Rodriguez, Francisco Javier Casaño, Cristina Calderon, Maria Labrador, Maria Vahí, Josefina Serrano, Eva Lumbreras, Jesus Maria Hernández-Rivas
In this prospective trial, the efficacy of azacitidine in lower-risk myelodysplastic syndromes (LR-SMD) lacking del(5q) was compared to best supportive care (BSC) at 1:1. The primary endpoint was the achievement of erythroid hematologic improvement (HI-E) after nine cycles. Thirty-six patients received at least ≥1 cycle. HI-E was confirmed 44.4% randomized to Aza and in 5.5% of patients receiving BSC (p < .01). After entry in Aza extension period, transfusion independence was achieved in all Aza responders with a median duration of 50 weeks (range: 17-231)...
August 24, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28818768/novel-gomisin-b-analogues-as-potential-cytotoxic-agents-design-synthesis-biological-evaluation-and-docking-studies
#15
B Poornima, Bandi Siva, A Venkanna, G Shankaraiah, Nishant Jain, Dharmendra Kumar Yadav, Sanjeev Misra, K Suresh Babu
As part of pharmacological-phytochemical integrated studies on medicinal flora, Gomisin B (1) was isolated as major phytochemical lead from schisandra grandiflora, a plant traditionally used in different Asian systems of medicine. A series of 1,2,3-triazoles derivatives were synthesized at the C-7' position of the gomisin B core through diastereoselective Michael addition followed by regioselective Huisgen 1,3-dipolar cycloaddition reactions. All these triazolyl derivatives (5a-5q) were well characterized using modern spectroscopic techniques and evaluated for their anti-cancer activity against a panel of five human cancerous cell-lines...
August 1, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28815864/interstitial-deletion-5p14-1-p15-2-and-5q14-3-q23-2-in-a-patient-with-clubfoot-blepharophimosis-arthrogryposis-and-multiple-congenital-abnormalities
#16
Burhan Balta, Murat Erdogan, Ayse B Ergul, Yavuz Sahin, Alper Ozcan
Interstitial deletions of the short and long arms of chromosome 5 are rare cytogenetic abnormalities. The 5p distal deletion is a genetic disorder characterized by a high-pitched cat-like cry, microcephaly, epicanthal folds, micrognathia, severe intellectual disability and motor delays. Previously, more than 46 patients with the 5q deletion have been reported. Here, we report de novo interstitial deletions involving 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with multiple congenital abnormalities, including blepharophimosis, arthrogryposis, short neck, round face, pelvic kidney, agenesis of the corpus callosum, and clubfoot...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28801374/myeloid-sarcoma-in-a-patient-with-myelodysplastic-syndrome-associated-with-del-5q-case-report-and-literature-review
#17
Josh A Showalter, Nidhi Tandon, Bihong Zhao, Guilin Tang, Nghia D Nguyen, L Jeffrey Medeiros
OBJECTIVE: Myeloid sarcoma (MS) is defined in the World Health Organization classification as a tumor mass consisting of myeloblasts with or without maturation and involving any anatomic site other than the bone marrow. We present a case of MS developing in a patient with 5q- myelodysplastic syndrome (MDS) and review the relevant literature. METHODS: A 77-year-old woman with recent diagnosis of MDS associated with del(5q) presented with symptoms and signs attributable to a mass involving the T8 vertebra...
August 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28755059/nusinersen-the-first-option-beyond-supportive-care-for-spinal-muscular-atrophy
#18
REVIEW
Vikas Maharshi, Shazia Hasan
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of spinal motor neurons and poses significant adverse outcome in affected population. Survival motor neuron 1 (SMN1) protein encoded by SMN1 gene located on 5q(13) is critical for survival and functioning of motor neurons. Almost identical gene SMN2, present on the same chromosome, produces a small truncated protein (SMN2) because of skipping of exon 7 from translation due to translation silent C6U substitution in exon 7 of SMN2 pre-mRNA transcript...
July 28, 2017: Clinical Drug Investigation
https://www.readbyqxmd.com/read/28752840/genetic-evaluation-of-juvenile-xanthogranuloma-genomic-abnormalities-are-uncommon-in-solitary-lesions-advanced-cases-may-show-more-complexity
#19
Christian N Paxton, Dennis P O'Malley, Andrew M Bellizzi, Deema Alkapalan, Yuri Fedoriw, Jason L Hornick, Sherrie L Perkins, Sarah T South, Erica F Andersen
Juvenile xanthogranuloma is a rare histiocytic proliferation primarily affecting infants and young children, characterized by aberrant infiltration of histiocyte-derived cells in the skin, soft tissues and more rarely, visceral organs. Juvenile xanthogranuloma is generally considered to be a benign disorder; most lesions are solitary cutaneous nodules that resolve spontaneously without treatment. However, cases with extracutaneous involvement, multiple lesions, and/or systemic disease often require aggressive therapy...
September 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28747165/increased-ercc1-expression-is-linked-to-chromosomal-aberrations-and-adverse-tumor-biology-in-prostate-cancer
#20
Frank Jacobsen, Billurvan Taskin, Nathaniel Melling, Charlotte Sauer, Corinna Wittmer, Claudia Hube-Magg, Martina Kluth, Ronald Simon, Dirk Pehrke, Burkhard Beyer, Thomas Steuber, Imke Thederan, Guido Sauter, Thorsten Schlomm, Waldemar Wilczak, Katharina Möller, Sören A Weidemann, Susanne Burdak-Rothkamm
BACKGROUND: Animal model experiments have suggested a role of the DNA repair protein ERCC1 (Excision Repair Cross-Complementation Group 1) in prostate cancer progression. METHODS: To better understand the impact of ERCC1 protein expression in human prostate cancer, a preexisting tissue microarray (TMA) containing more than 12,000 prostate cancer specimens was analyzed by immunohistochemistry and data were compared with tumor phenotype, PSA recurrence and several of the most common genomic alterations (TMPRSS2:ERG fusions: deletions of PTEN, 6q, 5q, 3p)...
July 26, 2017: BMC Cancer
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