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Clonal evolution

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https://www.readbyqxmd.com/read/28930282/esophageal-cancer-genomic-and-molecular-characterization-stem-cell-compartment-and-clonal-evolution
#1
REVIEW
Ugo Testa, Germana Castelli, Elvira Pelosi
Esophageal cancer (EC) is the eighth most common cancer and is the sixth leading cause of death worldwide. The incidence of histologic subtypes of EC, esophageal adenocarcinoma (EAC) and esophageal squamous carcinoma (ESCC), display considerable geographic variation. EAC arises from metaplastic Barrett's esophagus (BE) in the context of chronic inflammation secondary to exposure to acid and bile. The main risk factors for developing ESCC are cigarette smoking and alcohol consumption. The main somatic genetic abnormalities showed a different genetic landscape in EAC compared to ESCC...
September 14, 2017: Medicines (Basel, Switzerland)
https://www.readbyqxmd.com/read/28930164/liver-cancer-molecular-characterization-clonal-evolution-and-cancer-stem-cells
#2
REVIEW
Germana Castelli, Elvira Pelosi, Ugo Testa
Liver cancer is the second most common cause of cancer-related death. The major forms of primary liver cancer are hepatocellular carcinoma (HCC) and intrahepatic cholangiocarcinoma (iCCA). Both these tumors develop against a background of cirrhotic liver, non-alcoholic fatty liver disease, chronic liver damage and fibrosis. HCC is a heterogeneous disease which usually develops within liver cirrhosis related to various etiologies: hepatitis B virus (HBV) infection (frequent in Asia and Africa), hepatitis C virus (HCV), chronic alcohol abuse, or metabolic syndrome (frequent in Western countries)...
September 20, 2017: Cancers
https://www.readbyqxmd.com/read/28926571/whole-genome-sequencing-illuminates-the-evolution-and-spread-of-multidrug-resistant-tuberculosis-in-southwest-nigeria
#3
Madikay Senghore, Jacob Otu, Adam Witney, Florian Gehre, Emma L Doughty, Gemma L Kay, Phillip Butcher, Kayode Salako, Aderemi Kehinde, Nneka Onyejepu, Emmanuel Idigbe, Tumani Corrah, Bouke de Jong, Mark J Pallen, Martin Antonio
Nigeria has an emerging problem with multidrug-resistant tuberculosis (MDR-TB). Whole-genome sequencing was used to understand the epidemiology of tuberculosis and genetics of multi-drug resistance among patients from two tertiary referral centers in Southwest Nigeria. In line with previous molecular epidemiology studies, most isolates of Mycobacterium tuberculosis from this dataset belonged to the Cameroon clade within the Euro-American lineage. Phylogenetic analysis showed this clade was undergoing clonal expansion in this region, and suggests that it was involved in community transmission of sensitive and multidrug-resistant tuberculosis...
2017: PloS One
https://www.readbyqxmd.com/read/28924377/current-progresses-of-single-cell-dna-sequencing-in-breast-cancer-research
#4
REVIEW
Jianlin Liu, Ragini Adhav, Xiaoling Xu
Breast cancers display striking genetic and phenotypic diversities. To date, several hypotheses are raised to explain and understand the heterogeneity, including theories for cancer stem cell (CSC) and clonal evolution. According to the CSC theory, the most tumorigenic cells, while maintaining themselves through symmetric division, divide asymmetrically to generate non-CSCs with less tumorigenic and metastatic potential, although they can also dedifferentiate back to CSCs. Clonal evolution theory recapitulates that a tumor initially arises from a single cell, which then undergoes clonal expansion to a population of cancer cells...
2017: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/28924241/clinical-impact-of-the-subclonal-architecture-and-mutational-complexity-in-chronic-lymphocytic-leukemia
#5
F Nadeu, G Clot, J Delgado, D Martín-García, T Baumann, I Salaverria, S Beà, M Pinyol, P Jares, A Navarro, H Suárez-Cisneros, M Aymerich, M Rozman, N Villamor, D Colomer, M González, M Alcoceba, M J Terol, B Navarro, E Colado, Á R Payer, X S Puente, C López-Otín, A López-Guillermo, A Enjuanes, E Campo
Genome studies of chronic lymphocytic leukemia (CLL) have revealed the remarkable subclonal heterogeneity of the tumors, but the clinical implications of this phenomenon are not well known. We assessed the mutational status of 28 CLL driver genes by deep-targeted next-generation sequencing and copy number alterations (CNA) in 406 previously untreated patients and 48 sequential samples. We detected small subclonal mutations (0.6-25% of cells) in nearly all genes (26/28), and they were the sole alteration in 22% of the mutated cases...
September 19, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28914620/new-developments-in-the-molecular-mechanisms-of-pancreatic-tumorigenesis
#6
Matthäus Felsenstein, Ralph H Hruban, Laura D Wood
Pancreatic cancer is an aggressive disease with a dismal prognosis in dire need of novel diagnostic and therapeutic approaches. The past decade has witnessed an explosion of data on the genetic alterations that occur in pancreatic cancer, as comprehensive next-generation sequencing analyses have been performed on samples from large cohorts of patients. These studies have defined the genomic landscape of this disease and identified novel candidates whose mutations contribute to pancreatic tumorigenesis. They have also clarified the genetic alterations that underlie multistep tumorigenesis in precursor lesions and provided insights into clonal evolution in pancreatic neoplasia...
September 13, 2017: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/28914569/mutations-in-myeloproliferative-neoplasms-their-significance-and-clinical-use
#7
Fiorella Schischlik, Robert Kralovics
Clonal hematologic diseases of the blood such as polycythemia vera, essential thrombocythemia and primary myelofibrosis belong to the BCR-ABL negative Myeloproliferative Neoplasms (MPN). These diseases are characterized by clonal expansion of hematopoietic precursor cells followed by increased production of differentiated cells of the myeloid lineage. Initiation of clonal hematopoiesis, formation of a clinical phenotype as well as disease progression form part of MPN disease evolution. The disease is driven by acquired somatic mutations in critical pathways such as cytokine signaling, epigenetic regulation, RNA splicing, and transcription factor signaling...
September 15, 2017: Expert Review of Hematology
https://www.readbyqxmd.com/read/28912835/a-unique-set-of-complex-chromosomal-abnormalities-in-an-infant-with-myeloid-leukemia-associated-with-down-syndrome
#8
Daiane Correa de Souza, Amanda Faria de Figueiredo, Daniela R Ney Garcia, Elaine Sobral da Costa, Moneeb A K Othman, Thomas Liehr, Eliana Abdelhay, Maria Luiza Macedo Silva, Teresa de Souza Fernandez
BACKGROUND: Children with Down syndrome (DS) have an enhanced risk of developing acute leukemia, with the most common subtype being acute megakaryoblastic leukemia (AMKL). Myeloid leukemia in Down syndrome (ML-DS) is considered a disease with distinct clinical and biological features. There are few studies focusing on the clonal cytogenetic changes during evolution of ML-DS. CASE PRESENTATION: Here, we describe a complex karyotype involving a previously unreported set of chromosomal abnormalities acquired during progression of ML-DS in an infant boy: derivative der(1)t(1;15)(q24;q23), translocation t(4;5)(q26;q33) and derivative der(15)t(7;15)(p21;q23)...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28906499/-incomplete-poems-syndrome-with-multicentric-castleman-s-disease
#9
P González de la Aleja, M García-Navarro, R Sánchez-Rodríguez, J M Ramos-Rincón
Castleman's disease (CD) is an atypical lymphoproliferative disorder of unknown cause, characterized by non-clonal nodal hyperplastic growth. Two forms of clinical presentation are currently recognized, one localized and the other multicentric, and four histopathologic variants. It is characterized by generalized lymphadenopathy, hepatosplenomegaly, fever and night sweats. CD may present severe pancytopenia, multi-organ failure, lymphoma evolution and it can sometimes be associated with paraneoplastic syndromes such as POEMS syndrome...
September 14, 2017: Anales del Sistema Sanitario de Navarra
https://www.readbyqxmd.com/read/28904998/parallel-evolution-of-group-b-streptococcus-hypervirulent-clonal-complex-17-unveils-new-pathoadaptive-mutations
#10
Alexandre Almeida, Isabelle Rosinski-Chupin, Céline Plainvert, Pierre-Emmanuel Douarre, Maria J Borrego, Claire Poyart, Philippe Glaser
Group B Streptococcus (GBS) is a commensal of the gastrointestinal and genitourinary tracts, while a prevailing cause of neonatal disease worldwide. Of the various clonal complexes (CCs), CC17 is overrepresented in GBS-infected newborns for reasons that are still largely unknown. Here, we report a comprehensive genomic analysis of 626 CC17 isolates collected worldwide, identifying the genetic traits behind their successful adaptation to humans and the underlying differences between carriage and clinical strains...
September 2017: MSystems
https://www.readbyqxmd.com/read/28903768/liquid-dynamic-medicine-and-n-of-1-clinical-trials-a-change-of-perspective-in-oncology-research
#11
REVIEW
Nicola Silvestris, Gennaro Ciliberto, Paolo De Paoli, Giovanni Apolone, Maria Luisa Lavitrano, Marco A Pierotti, Giorgio Stanta
The increasing use of genomics to define the pattern of actionable mutations and to test and validate new therapies for individual cancer patients, and the growing application of liquid biopsy to dynamically track tumor evolution and to adapt molecularly targeted therapy according to the emergence of tumor clonal variants is shaping modern medical oncology., In order to better describe this new therapeutic paradigm we propose the term "Liquid dynamic medicine" in the place of "Personalized or Precision medicine"...
September 13, 2017: Journal of Experimental & Clinical Cancer Research: CR
https://www.readbyqxmd.com/read/28903450/clinical-and-biological-significance-of-circulating-tumor-cells-circulating-tumor-dna-and-exosomes-as-biomarkers-in-colorectal-cancer
#12
REVIEW
Shiyu Jia, Rui Zhang, Ziyang Li, Jinming Li
Colorectal cancer (CRC) has been the fourth leading cause of cancer-related mortality worldwide. Owing to clonal evolution and selection, CRC treatment needs multimodal therapeutic approaches and due monitoring of tumor progression and therapeutic efficacy. Liquid biopsy, involving the use of circulating tumor cells (CTCs), circulating tumor DNA (ctDNA), and exosomes, may offer a promising noninvasive alternative for diagnosis and for real-time monitoring of tumor evolution and therapeutic response compared to traditional tissue biopsy...
August 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28899413/evolution-and-genome-specialization-of-brucella-suis-biovar-2-iberian-lineages
#13
Ana Cristina Ferreira, Rogério Tenreiro, Maria Inácia Corrêa de Sá, Ricardo Dias
BACKGROUND: Swine brucellosis caused by B. suis biovar 2 is an emergent disease in domestic pigs in Europe. The emergence of this pathogen has been linked to the increase of extensive pig farms and the high density of infected wild boars (Sus scrofa). In Portugal and Spain, the majority of strains share specific molecular characteristics, which allowed establishing an Iberian clonal lineage. However, several strains isolated from wild boars in the North-East region of Spain are similar to strains isolated in different Central European countries...
September 12, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28894561/solitary-plasmacytoma
#14
REVIEW
Sara Grammatico, Emilia Scalzulli, Maria Teresa Petrucci
Solitary plasmacytoma is a rare disease characterized by a localized proliferation of neoplastic monoclonal plasma cells, without evidence of systemic disease. It can be subdivided into solitary bone plasmacytoma if the lesion originates in bone, or solitary extramedullary plasmacytoma if the lesion involves a soft tissue. The incidence of solitary bone plasmacytoma is higher than solitary extramedullary plasmacytoma. Also, the prognosis is different: even if both forms respond well to treatment, overall survival and progression-free survival of solitary bone plasmacytoma are poorer than solitary extramedullary plasmacytoma due to its higher rate of evolution in multiple myeloma...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28894191/non-cell-autonomous-effects-yield-lower-clonal-diversity-in-expanding-tumors
#15
Tazzio Tissot, Frédéric Thomas, Benjamin Roche
Recent cancer research has investigated the possibility that non-cell-autonomous (NCA) driving tumor growth can support clonal diversity (CD). Indeed, mutations can affect the phenotypes not only of their carriers ("cell-autonomous", CA effects), but also sometimes of other cells (NCA effects). However, models that have investigated this phenomenon have only considered a restricted number of clones. Here, we designed an individual-based model of tumor evolution, where clones grow and mutate to yield new clones, among which a given frequency have NCA effects on other clones' growth...
September 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28894165/evolution-analysis-of-heterogeneous-non-small-cell-lung-carcinoma-by-ultra-deep-sequencing-of-the-mitochondrial-genome
#16
Wafa Amer, Csaba Toth, Erik Vassella, Jeannine Meinrath, Ulrike Koitzsch, Anne Arens, Jia Huang, Hannah Eischeid, Alexander Adam, Reinhard Buettner, Andreas Scheel, Stephan C Schaefer, Margarete Odenthal
Accurate assessment of tumour heterogeneity is an important issue that influences prognosis and therapeutic decision in molecular pathology. Due to the shortage of protective histones and a limited DNA repair capacity, the mitochondrial (mt)-genome undergoes high variability during tumour development. Therefore, screening of mt-genome represents a useful molecular tool for assessing precise cell lineages and tracking tumour history. Here, we describe a highly specific and robust multiplex PCR-based ultra-deep sequencing technology for analysis of the whole mt-genome (wmt-seq) on low quality-DNA from formalin-fixed paraffin-embedded tissues...
September 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28889990/glandular-sources-of-pheromones-used-to-control-host-workers-apis-mellifera-scutellata-by-socially-parasitic-workers-of-apis-mellifera-capensis
#17
Olabimpe O Okosun, Christian W W Pirk, Robin M Crewe, Abdullahi A Yusuf
Pheromonal control by the honey bee queen is achieved through the use of secretions from diverse glandular sources, but the use of pheromones from a variety of glandular sources by reproductively dominant workers, has not previously been explored. Using the social parasite, Apis mellifera capensis clonal worker we studied the diversity of glandular sources used for pheromonal control of reproductively subordinate A. m. scutellata workers. To determine whether pheromones from different glandular sources are used by reproductively active workers to achieve dominance and evaluate the degree of pheromonal competition between workers of the two sub-species, we housed groups of workers of the two sub-species together in cages and analysed mandibular and tergal gland secretions as well as, ovarian activation status of each worker after 21days...
September 7, 2017: Journal of Insect Physiology
https://www.readbyqxmd.com/read/28886708/cancer-heterogeneity-converting-a-limitation-into-a-source-of-biologic-information
#18
REVIEW
Albert Rübben, Arturo Araujo
Analysis of spatial and temporal genetic heterogeneity in human cancers has revealed that somatic cancer evolution in most cancers is not a simple linear process composed of a few sequential steps of mutation acquisitions and clonal expansions. Parallel evolution has been observed in many early human cancers resulting in genetic heterogeneity as well as multilineage progression. Moreover, aneuploidy as well as structural chromosomal aberrations seems to be acquired in a non-linear, punctuated mode where most aberrations occur at early stages of somatic cancer evolution...
September 8, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28883285/genetic-abnormalities-in-core-binding-factor-acute-myeloid-leukemia
#19
Yuichi Ishikawa
Acute myeloid leukemia (AML) is a genetically heterogeneous disease, and its prognosis is stratified on the basis of chromosomal and genetic alterations. Core binding factor (CBF) leukemia consists of AML with t (8;21) (p22;q22) and inv16 (q16q16) /t (16;16) (q16;q16) and is included in AML with recurrent genetic abnormality according to WHO classification. Although CBF-AML is categorized as favorable-risk AML, approximately 40% of patients show relapse. The t (8;21) and inv16 (q16q16) /t (16;16) (q16;q16) result in RUNX1-RUNX1T1 and CBFB-MYH11 fusion genes, respectively; however, the fusion proteins encoded by these genes alone are insufficient for the development of leukemia...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28881657/tumor-biomarker-conversion-between-primary-and-metastatic-breast-cancer-mrna-assessment-and-its-concordance-with-immunohistochemistry
#20
Stefan Stefanovic, Ralph Wirtz, Thomas M Deutsch, Andreas Hartkopf, Peter Sinn, Zsuzsanna Varga, Bettina Sobottka, Lakis Sotiris, Florin-Andrei Taran, Christoph Domschke, Andre Hennigs, Sara Y Brucker, Christof Sohn, Florian Schuetz, Andreas Schneeweiss, Markus Wallwiener
Biomarker changes between primary (PT) and metastatic tumor (MT) site may be significant in individualizing treatment strategies and can result from actual clonal evolution, biomarker conversion, or technical limitations of diagnostic tests. This study explored biomarker conversion during breast cancer (BC) progression in 67 patients with different tumor subtypes and metastatic sites via mRNA quantification and subsequently analyzed the concordance between real-time qPCR and immunohistochemistry (IHC). Immunostaining for estrogen receptor (ER), progesterone receptor (PR), HER2, and Ki-67 was performed on formalin-fixed, paraffin-embedded PT and MT tissue sections...
August 1, 2017: Oncotarget
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