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https://www.readbyqxmd.com/read/29217907/synchronous-breast-cancer-and-gallbladder-diseases-a-chromosomal-analysis-a-pilot-study-at-a-tertiary-care-centre
#1
Devendra Chaudhary, Rahul Ahluwalia, Arvind Rai
Out of a total of 50 study-eligible patients, 15 patients were found to have synchronous breast cancer and gallbladder diseases. Fourteen such patients had breast cancer and cholelithiasis while 1 patient had breast cancer with gallbladder cancer. Amongst these 15 patients, 7 patients tested positive for chromosomal aberrations on karyotyping. Aberrations in these patients were seen on chromosomes 13 and 17 with 2 patients having deletion 13q, 2 having deletion 17q, and 2 having deletions on 17p while one patient had multiple deletions on chromosomes 13q and 17p...
December 2017: Indian Journal of Surgery
https://www.readbyqxmd.com/read/29209431/combining-cytogenetic-and-epigenetic-approaches-in-chronic-lymphocytic-leukemia-improves-prognosis-prediction-for-patients-with-isolated-13q-deletion
#2
Cristina Bagacean, Christelle Le Dantec, Christian Berthou, Adrian Tempescul, Hussam Saad, Anne Bordron, Mihnea Zdrenghea, Victor Cristea, Nathalie Douet-Guilbert, Yves Renaudineau
Background: Both defective DNA methylation and active DNA demethylation processes are emerging as important risk factors in chronic lymphocytic leukemia (CLL). However, associations between 5-cytosine epigenetic markers and the most frequent chromosomal abnormalities detected in CLL remain to be established. Methods: CLL patients were retrospectively classified into a cytogenetic low-risk group (isolated 13q deletion), an intermediate-risk group (normal karyotype or trisomy 12), and a high-risk group (11q deletion, 17p deletion, or complex karyotype [≥ 3 breakpoints])...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/29172291/the-utilization-of-karyotyping-ifish-and-mlpa-for-the-detection-of-recurrence-genetic-aberrations-in-multiple-myeloma
#3
Suchada Sommaluan, Budsaba Rerkamnuaychoke, Teeraya Pauwilai, Suporn Chancharunee, Preeyaporn Onsod, Pitichai Pornsarayuth, Takol Chareonsirisuthigul, Rachaneekorn Tammachote, Teerapong Siriboonpiputtana
Multiple myeloma (MM) is a hematological malignancy characterized by abnormal accumulation of clonal plasma cells in the bone marrow. Recently, multiplex ligation-dependent probe amplification (MLPA) has emerged as an effective and robust method for detection of common genetic alterations in MM patients. Here, we aimed to confirm MLPA utility for this purpose and furthermore to test the feasibility of a combination of karyotyping, interphase fluorescence in situ hybridization (iFISH) and MLPA methods for diagnosis, prognostic assessment and risk stratification of MM...
November 26, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/29168298/biallelic-mutations-in-nalcn-expanding-the-genotypic-and-phenotypic-spectra-of-ihprf1
#4
Toshiki Takenouchi, Mie Inaba, Tomoko Uehara, Takao Takahashi, Kenjiro Kosaki, Seiji Mizuno
Loss-of function mutations in NALCN on chromosome 13q, a sodium leak channel that maintains baseline neuronal excitability, cause infantile hypotonia with psychomotor retardation and characteristic faces 1 (IHPRF1, OMIM #615419). Here, we document two individuals with early onset hypotonia with poor feeding and intellectual disability who were compatible with a diagnosis of IHPRF1. The two patients had bi-allelic mutations in NALCN through two different genetic mechanisms: Patient 1 had bi-allelic splice site mutations, that is c...
November 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29166734/-a-retrospective-study-of-the-bird-regimen-in-the-treatment-of-relapsed-refractory-multiple-myeloma
#5
X L Liu, L Li, Q L Shi, L J Chen, X X Cao, J Li, A J Liao, D H Zou, J N Sun, S J Gao, W Li, J Hou, F Y Jin
Objective: To evaluate efficacy of the BiRd regimen, a combination of clarithromycin, lenalidomide, and dexamethasone, in the treatment of patients with relapsed/refractory multiple myeloma (RRMM) . Methods: Patients with RRMM treated with BiRd between September 11, 2013 and August 1, 2016 at six centers were included to evaluate overall survival rate (ORR) , clinical benefit rate (CBR) , progression-free survival (PFS) , overall survival (OS) , as well as adverse events. Results: Of 30 patients with RRMM, 27 patients were evaluable, and ORR and CBR were 51...
October 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/29081188/-cytogenetic-abnormalities-and-prognosis-of-532-patients-with-multiple-myeloma
#6
H Wu, H Zhang, H Y He, H Jiang, Y Y Zhao, R An, J He, R Li, J Lu, J Hou
Objective: To explore the effect of 6 common cytogenetic abnormalities on the prognosis of multiple myeloma (MM). Methods: Myeloma cells from a cohort of 532 newly-diagnosed MM patients enrolled were enriched by CD138 immunomagnetic beads, then detected 13q-, 17p-, 1q+, t (4;14), t (11;14) and t (14;16) and other common genetic abnormalities in MM by using interphase fluorescence in situ hybridization (FISH) technique to compare the influence of different genetic abnormalities on their prognoses. Results: The rate of cytogenetic abnormalities was 78...
September 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/28989590/cytogenetic-abnormalities-in-myelodysplastic-syndromes-an-overview
#7
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/28984869/bcl2-and-mir-15-16-from-gene-discovery-to-treatment
#8
REVIEW
Yuri Pekarsky, Veronica Balatti, Carlo M Croce
In 1984, we investigated the t(14;18) chromosomal translocations that frequently occur in patients with follicular lymphoma. We first identified a locus on chromosome 18 involved in these translocations with the chromosome 14 containing the immunoglobulin heavy chain locus. Within this region on chromosome 18, we then discovered a gene that we called BCL2, which was activated by the translocations. Since that time, many studies determined that BCL2 is one of the most important oncogenes involved in cancer by inhibiting apoptosis...
October 6, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/28883797/genetic-bases-of-bicuspid-aortic-valve-the-contribution-of-traditional-and-high-throughput-sequencing-approaches-on-research-and-diagnosis
#9
REVIEW
Betti Giusti, Elena Sticchi, Rosina De Cario, Alberto Magi, Stefano Nistri, Guglielmina Pepe
Bicuspid aortic valve (BAV) is a common (0.5-2.0% of general population) congenital heart defect with increased prevalence of aortic dilatation and dissection. BAV has an autosomal dominant inheritance with reduced penetrance and variable expressivity. BAV has been described as an isolated trait or associated with syndromic conditions [e.g., Marfan Marfan syndrome or Loeys-Dietz syndrome (MFS, LDS)]. Identification of a syndromic condition in a BAV patient is clinically relevant to personalize aortic surgery indication...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28862698/prognostic-implications-of-abnormalities-of-chromosome-13-and-the-presence-of-multiple-cytogenetic-high-risk-abnormalities-in-newly-diagnosed-multiple-myeloma
#10
M Binder, S V Rajkumar, R P Ketterling, P T Greipp, A Dispenzieri, M Q Lacy, M A Gertz, F K Buadi, S R Hayman, Y L Hwa, S R Zeldenrust, J A Lust, S J Russell, N Leung, P Kapoor, R S Go, W I Gonsalves, R A Kyle, S K Kumar
Fluorescence in situ hybridization evaluation is essential for initial risk stratification in multiple myeloma. While the presence of specific cytogenetic high-risk abnormalities (HRA) is known to confer a poor prognosis, less is known about the cumulative effect of multiple HRA. We studied 1181 patients with newly diagnosed multiple myeloma who received novel agents as first-line therapy. High-risk abnormalities were defined as t(4;14), t(14;16), t(14;20) and del(17p). There were 884 patients (75%) without any HRA and 297 patients (25%) with HRA, including 262 (22%) with one HRA and 35 (3%) with two HRA...
September 1, 2017: Blood Cancer Journal
https://www.readbyqxmd.com/read/28803241/gender-specific-aspects-in-patients-with-multiple-myeloma-undergoing-autologous-stem-cell-transplantation-a-single-center-experience
#11
Doris Posch, Werner Rabitsch, Philipp Wohlfarth, Michael Leiner, Edit Porpaczy, Johannes Drach, Markus Raderer, Wolfgang Lamm
OBJECTIVE: Limited data exist on gender-specific aspects in hematologic malignancies and have been obtained mostly in non-Hodgkin lymphomas. The objective of this study was to investigate gender-specific aspects in patients with multiple myeloma (MM) undergoing autologous stem cell transplantation (ASCT). METHODS: A retrospective data analysis of 191 patients with MM who underwent ASCT was performed. Data collected from clinical records included age, sex, stage, induction therapy, outcome of induction, kind of stem cell mobilization, response to induction therapy and ASCT, cytogenetic aberrations, progression-free survival, and overall survival...
August 12, 2017: Oncology
https://www.readbyqxmd.com/read/28770277/quantitative-pcr-an-alternative-approach-to-detect-common-copy-number-alterations-in-multiple-myeloma
#12
M C Chillón, C Jiménez, R García-Sanz, M Alcoceba, I Prieto, M García-Alvarez, A Antón, R Maldonado, M Hernández-Ruano, M González, N C Gutiérrez, M E Sarasquete
Chromosome 1q gains and 13q deletions are common cytogenetic aberrations in multiple myeloma (MM) that confer a poor prognosis. There are several techniques for the targeted study of these alterations, but interphase fluorescence in situ hybridization (FISH) is the current gold standard. The aim of the present study was to validate quantitative PCR (qPCR) as an alternative to FISH studies in CD138+-enriched plasma cells (PCs) from MM patients at diagnosis. We analyzed 1q gains and 13q deletions by qPCR in 57 and 60 MM patients, respectively...
October 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28728469/characterizing-patients-with-multiple-chromosomal-aberrations-detected-by-fish-in-chronic-lymphocytic-leukemia
#13
Isabel González-Gascón Y Marín, María Hernández-Sanchez, Ana Eugenia Rodríguez-Vicente, Anna Puiggros, Rosa Collado, Elisa Luño, Teresa González, Neus Ruiz-Xivillé, Margarita Ortega, Eva Gimeno, Carolina Muñoz, Maria Stefania Infante, Julio Delgado, María Teresa Vargas, Marcos González, Francesc Bosch, Blanca Espinet, Jesús María Hernández-Rivas, José Ángel Hernández
We analyzed the features of chronic lymphocytic leukemia (CLL) with multiple abnormalities (MA) detected by FISH. A local database including 2095 CLL cases was used and 323 with MA (15.4%) were selected. MA was defined by the presence of two or more alterations (deletions of 13q14 (13q-), 11q22 (11q-), 17p13 (17p-) or trisomy 12 (+12)). The combination of 13q- with 11q- and 13q- with 17p-, accounted for 58.2% of the series, in contrast to 11q- with 17p- (3.7%). Patients carrying MA since diagnosis presented a short time to first therapy(TTFT) (27 months) and overall survival (OS) (76 months)...
July 21, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28697743/integrative-analysis-of-copy-number-and-gene-expression-in-breast-cancer-using-formalin-fixed-paraffin-embedded-core-biopsy-tissue-a-feasibility-study
#14
Mahesh Iddawela, Oscar Rueda, Jenny Eremin, Oleg Eremin, Jed Cowley, Helena M Earl, Carlos Caldas
BACKGROUND: An absence of reliable molecular markers has hampered individualised breast cancer treatments, and a major limitation for translational research is the lack of fresh tissue. There are, however, abundant banks of formalin-fixed paraffin-embedded (FFPE) tissue. This study evaluated two platforms available for the analysis of DNA copy number and gene expression using FFPE samples. METHODS: The cDNA-mediated annealing, selection, extension, and ligation assay (DASL™) has been developed for gene expression analysis and the Molecular Inversion Probes assay (Oncoscan™), were used for copy number analysis using FFPE tissues...
July 11, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28683472/comprehensive-analysis-of-copy-number-aberrations-in-microsatellite-stable-colon-cancer-in-view-of-stromal-component
#15
M Henar Alonso, Susanna Aussó, Adriana Lopez-Doriga, David Cordero, Elisabet Guinó, Xavier Solé, Mercè Barenys, Javier de Oca, Gabriel Capella, Ramón Salazar, Rebeca Sanz-Pamplona, Victor Moreno
BACKGROUND: Somatic copy number aberrations (CNAs) are common acquired changes in cancer cells having an important role in the progression of colon cancer (colorectal cancer, CRC). This study aimed to perform a characterisation of CNA and their impact in gene expression. METHODS: Copy number aberrations were inferred from SNP array data in a series of 99 CRC. Copy number aberration events were calculated and used to assess the association between copy number dosage, clinical and molecular characteristics of the tumours, and gene expression changes...
July 25, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28653201/chondrolipoma-of-the-breast-as-a-rare-variant-of-myofibroblastoma-an-immunohistochemical-study-of-two-cases
#16
Masayuki Shintaku, Yoshihiro Yamamoto, Fumihiko Kono, Toshiyuki Kitai, Wakako Tsuji, Fumiaki Yotsumoto, Ryoji Kushima
Chondrolipoma of the breast is a very rare tumor whose histogenesis remains obscure. We report two cases (56-year-old and 43-year-old women) and present the results of an immunohistochemical study which strongly suggests that this tumor is a variant of myofibroblastoma. The tumors predominantly consisted of lipoma-like, mature adipose tissue, and many islands of hyaline cartilage. A proliferation of spindle cells associated with the deposition of collagen fibers was also seen. On immunohistochemical examination, spindle cells showed cytoplasmic reactivity for vimentin, desmin, bcl-2, and α-smooth muscle actin, as well as nuclear reactivity for estrogen receptor (ER) and progesterone receptor (PgR)...
October 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28621320/genomic-analysis-of-follicular-dendritic-cell-sarcoma-by-molecular-inversion-probe-array-reveals-tumor-suppressor-driven-biology
#17
Erica F Andersen, Christian N Paxton, Dennis P O'Malley, Abner Louissaint, Jason L Hornick, Gabriel K Griffin, Yuri Fedoriw, Young S Kim, Lawrence M Weiss, Sherrie L Perkins, Sarah T South
Follicular dendritic cell sarcoma is a rare malignant neoplasm of dendritic cell origin that is currently poorly characterized by genetic studies. To investigate whether recurrent genomic alterations may underlie the biology of follicular dendritic cell sarcoma and to identify potential contributory regions and genes, molecular inversion probe array analysis was performed on 14 independent formalin-fixed, paraffin-embedded samples. Abnormal genomic profiles were observed in 11 out of 14 (79%) cases. The majority showed extensive genomic complexity that was predominantly represented by hemizygous losses affecting multiple chromosomes...
September 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28604954/-detection-of-genomic-abnormalities-among-105-patients-with-chronic-lymphocytic-leukemia-using-fluorescence-in-situ-hybridization
#18
Huanping Wang, Huan Xu, Zhimei Chen, Jiyu Lou, Jie Jin
OBJECTIVE: To assess the value of fluorescence in situ hybridization (FISH) for the detection of genomic abnormalities among patients with chronic lymphocytic leukemia (CLL). METHODS: Interphase FISH was performed on bone marrow samples derived from 105 patients with CLL at the time of diagnosis using probes for D13S319/13q14, ATM/11q22, P53/17p13 and CEP12. The abnormalities and prognostic factors were analyzed. Overall survival of the patients was calculated. RESULTS: The FISH assay has detected genomic abnormalities in 81 (77...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28599250/evaluation-of-mir-15a-and-mir-16-1-as-prognostic-biomarkers-in-chronic-lymphocytic-leukemia
#19
REVIEW
Tatiane Vieira Braga, Fernanda Cristina Gontijo Evangelista, Lorena Caixeta Gomes, Sérgio Schusterschitz da Silva Araújo, Maria das Graças Carvalho, Adriano de Paula Sabino
Chronic lymphocytic leukemia (CLL) is a B lineage neoplasm, characterized by the accumulation of B lymphocytes of great longevity, and usually develops as a result of the inhibition of apoptosis. Clinical evolution is extremely variable amongst affected individuals with survival ranging from a few months in aggressive cases, to a few decades in cases of indolent CLL. The identification of new prognostic factors, apart from clinical staging, has been an important research topic aiming at a better understanding of CLL...
August 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28576425/-correlation-of-genetic-and-cytogenetic-alterations-in-pathological-aggressiveness-urothelial-carcinoma-of-the-bladder-performance-of-bca-1-a-mini-array-comparative-genomic-hybridisation-based-test
#20
P Léon, G Cancel Tassin, K Sighar, E Compérat, C Gaffory, V Ondet, S Hugonin, M Audouin, S Doizi, O Traxer, C Ciofu, M Rouprêt, R Lacave, O Cussenot
INTRODUCTION: Urothelial carcinomas are the fourth leading cause of cancer in humans. Their incidence is increasing by more than 50% in 25 years. The superficial forms (70% cases) require a close active surveillance to identify frequent recurrences and progression to invasive stage. Our main goal was to identify prognostic molecular markers for bladder cancer that could be used alone or in combination in routine clinical practice. In this aim, we evaluated the capability of the BCA-oligo test based on a CGH array to correctly classify tumoral grade/stage...
June 2017: Progrès en Urologie
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