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https://www.readbyqxmd.com/read/28092996/chromosome-1-amplification-has-similar-prognostic-value-to-del-17p13-and-t-4-14-p16-q32-in-multiple-myeloma-patients-analysis-of-real-life-data-from-the-polish-myeloma-study-group
#1
Norbert Grzasko, Roman Hajek, Marek Hus, Sylwia Chocholska, Marta Morawska, Krzysztof Giannopoulos, Krzysztof Czarnocki, Agnieszka Druzd-Sitek, Barbara Pienkowska-Grela, Jolanta Rygier, Lidia Usnarska-Zubkiewicz, Dominik Dytfeld, Tadeusz Kubicki, Artur Jurczyszyn, Maciej Korpysz, Anna Dmoszynska
The study aimed to assess prognostic significance of del(13q14), del(17p13), t(4;14)(p16;q32), and amp(1q21) in newly diagnosed myeloma patients treated mostly with thalidomide-based therapies. All genetic abnormalities except del(13q14) were independent prognostic factors associated with shortened progression-free survival (PFS) and overall survival (OS). Patients with no abnormalities, one abnormality, and ≥2 abnormalities had a median PFS of 41.8, 17.0, and 10.0 months, respectively; a median OS was not reached, 48...
January 16, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/27990414/what-is-new-in-genetics-of-congenital-heart-defects
#2
REVIEW
Maria Cristina Digilio, Bruno Marino
Epidemiological studies, clinical observations, and advances in molecular genetics are contributing to the understanding of the etiology of congenital heart defects (CHDs). Several phenotype-genotype correlation studies have suggested that specific morphogenetic mechanisms put in motion by genes can result in a specific cardiac phenotype. The use of new technologies has increased the possibility of identification of new genes and chromosomal loci in syndromic and non-syndromic CHDs. There are a number of methods available for genetic research studies of CHDs, including cytogenetic analysis, linkage and association studies, copy number variation (CNV) and DNA micro-array analysis, and whole exome sequencing...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27988891/investigation-of-36-non-hla-human-leucocyte-antigen-psoriasis-susceptibility-loci-in-a-psoriatic-arthritis-cohort
#3
Zheng Zhang, Jin Yuan, Zhen Tian, Jinhua Xu, Zhong Lu
Psoriasis has been intensively studied recently and numerous risk-associated variants within 44 susceptibility loci have been discovered. Estimates suggest that the genetic contribution to PsA (psoriatic arthritis) may be higher than PsV (psoriasis vulgaris) yet most work has been done on the latter due to its greater population prevalence. To test whether variants in the PsV-associated loci are also related to PsA, we performed a candidate loci association study in Chinese population. Genotyping was performed by MassARRAY platform (Sequenom, San Diego, CA, USA)...
December 17, 2016: Archives of Dermatological Research
https://www.readbyqxmd.com/read/27930557/application-of-array-comparative-genomic-hybridization-in-tetralogy-of-fallot
#4
Lin Liu, Hong-Dan Wang, Cun-Ying Cui, Dong Wu, Tao Li, Tai-Bing Fan, Bang-Tian Peng, Lian-Zhong Zhang, Cheng-Zeng Wang
To explore the underlying pathogenesis and provide references for genetic counseling and prenatal gene diagnosis, we analyzed the chromosome karyotypes and genome-wide copy number variations (CNVs) in 86 patients with tetralogy of Fallot (TOF) by G-banding karyotype analysis and array-comparative genomic hybridization (aCGH), respectively. And then quantitative polymerase chain reaction was used to validate these candidate CNVs. Based on their different properties, CNVs were categorized into benign CNVs, suspiciously pathogenic CNVs, and indefinite CNVs...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27920638/interstitial-1q21-1-microdeletion-is-associated-with-severe-skeletal-anomalies-dysmorphic-face-and-moderate-intellectual-disability
#5
Bruno F Gamba, Roseli M Zechi-Ceide, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Carla Rosenberg, Ana C V Krepischi Santos, Lucilene Ribeiro-Bicudo, Antonio Richieri-Costa
We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27907212/diffuse-large-b-cell-lymphoma-cell-line-u-2946-model-for-mcl1-inhibitor-testing
#6
Hilmar Quentmeier, Hans G Drexler, Vivien Hauer, Roderick A F MacLeod, Claudia Pommerenke, Cord C Uphoff, Margarete Zaborski, Mattias Berglund, Gunilla Enblad, Rose-Marie Amini
Diffuse large B cell lymphoma (DLBCL) is the most common form of non-Hodgkin lymphoma worldwide. We describe the establishment and molecular characteristics of the DLBCL cell line U-2946. This cell line was derived from a 52-year-old male with DLBCL. U-2946 cells carried the chromosomal translocation t(8;14) and strongly expressed MYC, but not the mature B-cell lymphoma associated oncogenes BCL2 and BCL6. Instead, U-2946 cells expressed the antiapoptotic BCL2 family member MCL1 which was highly amplified genomically (14n)...
2016: PloS One
https://www.readbyqxmd.com/read/27889662/pediatric-pineal-germinomas-epigenetic-and-genomic-approach
#7
Monserrat Pérez-Ramírez, Alejo Justino Hernández-Jiménez, Armando Guerrero-Guerrero, Alicia Georgina Siordia-Reyes, Marta Elena Hernández-Caballero, Antonio García-Méndez, Fernando Chico-Ponce de León, Fabio Abdel Salamanca-Gómez, Normand García-Hernández
OBJECTIVE: We identify and correlate chromosomal alterations, methylation patterns and gene expression in pediatric pineal germinomas. METHODS: CGH microarray, methylation and gene expression were performed through the Agilent platform. The results were analyzed with MatLab software, MapViewer, DAVID, GeneCards and Hippie. RESULTS: Amplifications were found in 1q24.2, 1q31.3, 2p11.2, 3p22.2, 7p13, 7p15.2, 8p22, 12p13.2, 14q24.3 y 22q12; and deletions were found in 1q21...
January 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/27877079/amplification-and-overexpression-of-cttn-and-ccnd1-at-chromosome-11q13-in-esophagus-squamous-cell-carcinoma-escc-of-north-eastern-chinese-population
#8
Xiaoxia Hu, Ji Wook Moon, Shibo Li, Weihong Xu, Xianfu Wang, Yuanyuan Liu, Ji-Yun Lee
Esophageal squamous cell carcinoma (ESCC) is a genetically complex tumor type and is a major cause of cancer-related mortality. The combination of genetics, diet, behavior, and environment plays an important role in the carcinogenesis of ESCC. To characterize the genomic aberrations of this disease, we investigated the genomic imbalances in 19 primary ESCC cases using high-resolution array comparative genomic hybridization (CGH). All cases showed either loss or gain of whole chromosomes or segments of chromosome(s) with variable genomic sizes...
2016: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/27869829/contribution-of-copy-number-variants-to-schizophrenia-from-a-genome-wide-study-of-41-321-subjects
#9
(no author information available yet)
Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 × 10(-15)), which persisted after excluding loci implicated in previous studies (OR = 1...
January 2017: Nature Genetics
https://www.readbyqxmd.com/read/27808367/translocation-breakpoints-of-chromosome-1-in-male-carriers-clinical-features-and-implications-for-genetic-counseling
#10
R X Wang, H G Zhang, Y Pan, S Chen, F G Yue, D L Zhu, R Z Liu
Reciprocal translocation is closely associated with male infertility and recurrent miscarriages. Balanced reciprocal translocations associated with reproductive failures are predominantly observed on chromosome 1. Additionally, infertile male patients present a number of breakpoints throughout chromosome 1. A translocation breakpoint might interrupt the structure of an important gene, leading to male infertility. Here, we report the breakpoints on chromosome 1 translocation and the clinical features presented in carriers, to enable informed genetic counseling of these patients...
October 5, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27807061/familial-non-medullary-thyroid-cancer-unraveling-the-genetic-maze
#11
REVIEW
Samantha Peiling Yang, Joanne Ngeow
Familial non-medullary thyroid cancer (FNMTC) constitutes 3-9% of all thyroid cancers. Out of all FNMTC cases, only 5% in the syndromic form has well-studied driver germline mutations. These associated syndromes include Cowden syndrome, familial adenomatous polyposis, Gardner syndrome, Carney complex type 1, Werner syndrome and DICER1 syndrome. It is important for the clinician to recognize these phenotypes so that genetic counseling and testing can be initiated to enable surveillance for associated malignancies and genetic testing of family members...
December 2016: Endocrine-related Cancer
https://www.readbyqxmd.com/read/27784371/-application-value-of-cd138-macs-fish-in-the-genetic-diagnosis-of-plasma-cell-dyscrasia
#12
Jian-Gang Mei, Han-Qing Li, Hong-Qin Cao, Jing-Jing Shao, Yong-Ping Zhai
OBJECTIVE: To investigate the cytogenetic characteristics of the various plasma cell dyscrasia using the CD138 MACS-FISH, to elucidate the application value of MACS-FISH in the genetic diagnosis of plasma cell dyscrasia, and to explore the standardization of FISH detection for plasma cell dyscrasia. METHODS: A total of 232 patients with newly diagnosed plasma cell dyscrasia were collected, including 203 cases of MM, 24 cases of AL amyloidosis and 5 cases of MGUS, whose cytogenetic abnormalities were detected by MACS-FISH, and the differences of the positive detection rates of chromosome karyotype analysis, C-FISH and MACS-FISH in MM cytogenetic abnormality were compared...
October 2016: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/27777633/uncovering-obsessive-compulsive-disorder-risk-genes-in-a-pediatric-cohort-by-high-resolution-analysis-of-copy-number-variation
#13
Matthew J Gazzellone, Mehdi Zarrei, Christie L Burton, Susan Walker, Mohammed Uddin, S M Shaheen, Julie Coste, Rageen Rajendram, Reva J Schachter, Marlena Colasanto, Gregory L Hanna, David R Rosenberg, Noam Soreni, Kate D Fitzgerald, Christian R Marshall, Janet A Buchanan, Daniele Merico, Paul D Arnold, Stephen W Scherer
BACKGROUND: Obsessive-compulsive disorder (OCD) is a heterogeneous neuropsychiatric condition, thought to have a significant genetic component. When onset occurs in childhood, affected individuals generally exhibit different characteristics from adult-onset OCD, including higher prevalence in males and increased heritability. Since neuropsychiatric conditions are associated with copy number variations (CNVs), we considered their potential role in the etiology of OCD. METHODS: We genotyped 307 unrelated pediatric probands with idiopathic OCD (including 174 that were part of complete parent-child trios) and compared their genotypes with those of 3861 population controls, to identify rare CNVs (<0...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27775850/clinicopathological-characteristics-and-genomic-profile-of-primary-sinonasal-tract-diffuse-large-b-cell-lymphoma-dlbcl-reveals-gain-at-1q31-and-rgs1-encoding-protein-high-rgs1-immunohistochemical-expression-associates-with-poor-overall-survival-in-dlbcl-nos
#14
Joaquim Carreras, Yara Yukie Kikuti, Sílvia Beà, Masashi Miyaoka, Shinichiro Hiraiwa, Haruka Ikoma, Ryoko Nagao, David Martin-Garcia, Itziar Salaverria, Ai Sato, Ichiki Akifumi, Giovanna Roncador, Juan F Garcia, Kiyoshi Ando, Elias Campo, Naoya Nakamura
AIMS AND METHODS: We aimed to define the clinicopathological characteristics of 29 primary sinonasal diffuse large B-cell lymphoma (DLBCL(sn) ) in a series of 240 DLBCL(all ()(NOS)()) including DLBCL(sn) training set (n=11) and validation set (n=18), and DLBCL(non-sn) (n=211). RESULTS: In the training set 82% had non-GCB phenotype and 18% were EBER(+) . The genomic profile showed gains((+)) of 1q21.3q31.2 (55%), 10q24.1 (46%), 11q14.1 (46%) and 18q12.1q23 (46%); losses((-)) of 6q26q27 (55%) and 9p21...
October 24, 2016: Histopathology
https://www.readbyqxmd.com/read/27751357/jumping-translocations-in-myelodysplastic-syndromes
#15
Cecilia C S Yeung, H Joachim Deeg, Colin Pritchard, David Wu, Min Fang
Jumping translocations (JT) have been identified in numerous malignancies, including leukemia, but infrequently in patients with myelodysplastic syndromes (MDS). The responsible genetic region has been mapped to the JTB gene at 1q21, but breakpoints involving other chromosomal loci, such as 3q and 11q, have been described as well. We have characterized the pathological and mutational landscape, and the clinical course of 6 new MDS patients with jumping mutations using chromosome genomic array testing (CGAT) and target gene panel next generation sequencing...
September 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27727512/replication-analyses-of-four-chromosomal-deletions-with-schizophrenia-via-independent-large-scale-meta-analyses
#16
Hong Chang, Lingyi Li, Tao Peng, Ming Li, Lei Gao, Xiao Xiao
Recent studies suggest that copy number variations (CNVs) are also involved in the genetic risk of schizophrenia. Using a Cochran-Mantel-Haenszel (CMH) adjusted meta-analysis in 18,497 schizophrenia patients and 25,522 healthy controls from 14 independent samples, we conducted replication analyses of four chromosomal deletions at 1q21.1, 15q11.2, 15q13.3, and 22q11.2 Loci for their associations with schizophrenia. Only CNVs larger than 100 kb that had >50% reciprocal overlap with the canonical deletion chromosomal regions were considered...
December 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/27708714/the-presence-of-two-rare-genomic-syndromes-1q21-deletion-and-xq28-duplication-segregating-independently-in-a-family-with-intellectual-disability
#17
Kyungsoo Ha, Yiping Shen, Tyler Graves, Cheol-Hee Kim, Hyung-Goo Kim
BACKGROUND: 1q21 microdeletion syndrome is a rare contiguous gene deletion disorder with de novo or autosomal dominant inheritance patterns and its phenotypic features include intellectual disability, distinctive facial dysmorphism, microcephaly, cardiac abnormalities, and cataracts. MECP2 duplication syndrome is an X-linked recessive neurodevelopmental disorder characterized by intellectual disability, global developmental delay, and other neurological complications including late-onset seizures...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27694925/hyperhaploidy-is-a-novel-high-risk-cytogenetic-subgroup-in-multiple-myeloma
#18
J R Sawyer, E Tian, J D Shaughnessy, J Epstein, C M Swanson, C Stangeby, C L Hale, L Parr, M Lynn, G Sammartino, J L Lukacs, C Stein, C Bailey, M Zangari, F E Davies, F Van Rhee, B Barlogie, G J Morgan
Hyperhaploid clones (24-34 chromosomes) were identified in 33 patients with multiple myeloma (MM), identifying a novel numerical cytogenetic subgroup. Strikingly, all hyperhaploid karyotypes were found to harbor monosomy 17p, the single most important risk stratification lesion in MM. A catastrophic loss of nearly a haploid set of chromosomes results in disomies of chromosomes 3,5,7,9,11,15,18,19, and 21, the same basic set of odd-numbered chromosomes found in trisomy in hyperdiploid myeloma. All other autosomes are found in monosomy, resulting in additional clinically relevant monosomies of 1p, 6q, 13q, and 16q...
October 3, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27662018/autotransplant-with-and-without-induction-chemotherapy-in-older-multiple-myeloma-patients-long-term-outcome-of-a-randomized-trial
#19
Christian Straka, Peter Liebisch, Hans Salwender, Burkhard Hennemann, Bernd Metzner, Stefan Knop, Sigrid Adler-Reichel, Christian Gerecke, Hannes Wandt, Martin Bentz, Tim Hendrik Bruemmendorf, Marcus Hentrich, Michael Pfreundschuh, Hans-Heinrich Wolf, Orhan Sezer, Ralf Bargou, Wolfram Jung, Lorenz Trümper, Bernd Hertenstein, Else Heidemann, Helga Bernhard, Nicola Lang, Norbert Frickhofen, Holger Hebart, Ralf Schmidmaier, Andreas Sandermann, Tobias Dechow, Albrecht Reichle, Brigitte Schnabel, Kerstin Schäfer-Eckart, Christian Langer, Martin Gramatzki, Axel Hinke, Bertold Emmerich, Hermann Einsele
Autologous transplantation is controversial for older patients with multiple myeloma. The role of age-adjusted high-dose melphalan and the impact of induction chemotherapy cycles is still unclear. A total of 434 patients aged 60-70 years were randomly assigned to 4 cycles of standard anthracycline-based induction chemotherapy or no induction. For all patients, double autologous transplantation after melphalan 140 mg/m(2) (MEL140) was planned. The primary end point was progression-free survival. Of 420 eligible patients, 85% received a first transplant and 69% completed double transplantation...
November 2016: Haematologica
https://www.readbyqxmd.com/read/27641506/integrative-genomic-and-network-analysis-identified-novel-genes-associated-with-the-development-of-advanced-cervical-squamous-cell-carcinoma
#20
Anirban Roychowdhury, Sudip Samadder, Pijush Das, Sapan Mandloi, Sankar Addya, Chandraditya Chakraborty, Partha Sarathi Basu, Ranajit Mondal, Anup Roy, Saikat Chakrabarti, Susanta Roychoudhury, Chinmay Kumar Panda
BACKGROUND: CSCC is one of the most common cancer affecting women globally. Though it is caused by the infection of hrHPV but long latency period for malignant outcome in only a subset of hrHPV infected women indicates involvement of additional alterations, primarily CNVs. Here, we showed how CNVs played a crucial role in development of advanced tumors (stage III/IV) in Indian patients. METHODS: Initially, high-resolution CGH-SNP microarray analysis pointed out frequent CNVs followed by significantly altered genes...
January 2017: Biochimica et Biophysica Acta
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