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Dittmann Kathleen - - 2011
Chromosomal abnormalities, like deletions, amplifications, inversions or translocations, are recurrent features in haematological malignancies. However, the precise molecular breakpoints are frequently not determined. Here we describe a rapid analysis of genetic imbalances combining fine tiling comparative genomic hybridization (FT-CGH) and ligation-mediated PCR (LM-PCR). We clarified an inv(14)(q11q32) in a case ...
Ge J - - 2011
Objectives:  Ex vivo expansion is a feasible strategy, which may overcome limitation of the very low frequency of haematopoietic stem/progenitor cells, in umbilical cord blood (UCB). However, both quality of cells and safety of expanded population are critical issues to be addressed for their clinical application. Hence, in this study, ...
Gotou Mayuko - - 2011
In this study, we established and analyzed a novel human myeloid leukemia cell line, AMU-AML1, from a patient with acute myeloid leukemia with multilineage dysplasia before the initiation of chemotherapy. AMU-AML1 cells were positive for CD13, CD33, CD117, and HLA-DR by flow cytometry analysis and showed a single chromosomal abnormality, ...
Nishio Jun - - 2011
Collagenous fibroma (desmoplastic fibroblastoma) is a rare, benign soft-tissue tumor composed of spindled and stellate-shaped cells embedded in a dense collagenous stroma. Recently, a translocation between chromosomes 2 and 11 or a rearrangement involving the chromosome 11q12 breakpoint was reported to be recurrent and unique in collagenous fibroma. Herein, we ...
Mandahl Nils - - 2011
Ordinary lipomas are cytogenetically characterized primarily by simple balanced chromosome aberrations with stable morphologies, most of which affect chromosome segment, 12q13-15, where the HMGA2 gene plays a key pathogenetic role. Atypical lipomatous tumors (ALTs) display supernumerary ring or giant marker chromosomes with amplification of several genes including HMGA2 and MDM2. ...
Shehab Marwa I - - 2011
We report on a patient with a mild clinical phenotype, including genital anomalies, with mosaic tetrasomy 9p. Karyotype analysis of peripheral blood lymphocytes detected a supernumerary isochromosome 9p present in every cell, with the initial result being reported as tetrasomy 9p in non-mosaic form. However,array Comparative Genomic Hybridization (aCGH) studies ...
Zhou Xiao Zhen - - 2011
Human chromosome 8p23 is a region that has the most frequent heterozygosity in common human adult epithelial malignancies, but its major tumor suppressor gene(s) remain to be identified. Telomerase is activated in most human cancers and is critical for cancer cell growth. However, little is known about the significance of ...
Park Hyewon H Department of Laboratory Medicine, Seoul National University College of Medicine, University Hospital, 101 Daehak-ro, Jongno-gu, Seoul, - - 2011
Loss of heterozygosity (LOH) in chromosome 6p has been reported in a number of tumors and some hematologic malignancies, including ALL. LOH in chromosome 6p, on which the HLA genes are located, can give rise to false homozygosity results in HLA genotyping of patients with hematologic malignancies. Here we report ...
Hossain Deloar - - 2011
Malignant melanoma is sometimes difficult to distinguish from benign nevus, and ancillary confirmatory studies would be of value in selected cases. To accurately differentiate melanoma from benign nevus, we investigated the utility of chromosomal anomalies in skin biopsy specimens using multitargeted fluorescence in-situ hybridization (FISH). Skin biopsy specimens were retrospectively ...
Teliarova Z - - 2011
There are two forms of gonadal dysgenesis - mixed and pure. In the mixed form, some differentiated gonads as well as some either ovarian or testicular rudiments are present. This form results in a number of phenotypes with a possibility of malignant transformation. In the pure form occurring in female gender, also ...
Hu Yu - - 2011
Chromosome 13q14 deletion (del13q14), chromosome 1q21 gain (amp1q21) and chromosome 17p13 deletion (del17p13) are the most frequent chromosomal aberrations in multiple myeloma (MM). They play an important role in prognosis. The aim of this study was to investigate the clinical significance of the chromosomal changes in Chinese MM patients. Interphase ...
Holland Heidrun - - 2011
Meningiomas are classified as benign, atypical, or anaplastic. The majority are sporadic, solitary, and benign tumors with favorable prognoses. However, the prognosis for patients with anaplastic meningiomas remains less favorable. High resolution genomic profiling has the capacity to provide more detailed information. Therefore, we analyzed genomic aberrations of benign and ...
Beaulieu Bergeron Mélanie - - 2011
Isodicentric chromosomes are among the structural abnormalities of the Y chromosome that are commonly identified in patients. The simultaneous 45,X cell line that is generated in cell division due to instability of the isodicentric Y chromosome [idic(Y)] has long been hypothesized to explain the variable sexual development of these patients, ...
McCord Rachel Patton RP Program in Systems Biology, Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, MA 01605-0103, - - 2011
Recurrent chromosomal translocations can drive oncogenesis, but how they form has remained elusive. Now, Chiarle et al. (2011) and Klein et al. (2011) characterize the genome-wide spectrum of translocations that form from a single double-stranded break, revealing that specific loci have an intrinsic predisposition for frequent chromosomal rearrangements.
Strassburger Deborah - - 2011
There may be incompatibility between testicular histopathological evaluation and testicular sperm extraction (TESE) outcome. Assessment for sperm presence and different pathological disturbances of non-obstructive azoospermia (NOA) remains challenging. An assay for maximal sampling and accurate identification of testicular cells from NOA patients undergoing TESE and autopsied fertile controls was developed. ...
Stahl Phillip R - - 2011
BACKGROUND: Loss of the Y chromosome is a frequently reported chromosomal abnormality in many tumor types. This study was undertaken to investigate the frequency of Y chromosome losses and this chromosomal abnormality might play a potential role in prostate cancer. METHODS: A preexisting prostate cancer tissue microarray (TMA) containing samples ...
Trencsenyi Gyorgy - - 2012
The distinguishable morphologic features of nuclei of acute myelogenous leukemia cells with enlarged size and finely distributed nuclear chromatin indicate incomplete chromosome condensation that can be related to elevated gene expression. To confirm this, interphase chromosome structures were studied in exponentially growing rat myelomonocytic leukemia 1 cells isolated at the ...
Blau Olga - - 2011
Mesenchymal stromal cells (MSCs) are an essential cell type of the hematopoietic microenvironment. Concerns have been raised about the possibility that MSCs undergo malignant transformation. Several studies, including one from our own group, have shown the presence of cytogenetic abnormalities in MSCs from leukemia patients. The aim of the present ...
Sanjmyatav Jimsgene - - 2011
PURPOSE: We identified regions of DNA copy number changes that are significantly associated with metastasis and clinical outcome in patients with clear cell renal cell carcinoma. MATERIALS AND METHODS: We analyzed 53 primary clear cell renal cell carcinomas, including 31 metastasized and 22 nonmetastasized tumors, by array comparative genomic hybridization ...
Nagamani Sandesh C Sreenath - - 2012
Submicroscopic deletions involving chromosome 1q43-q44 result in cognitive impairment, microcephaly, growth restriction, dysmorphic features, and variable involvement of other organ systems. A consistently observed feature in patients with this deletion are the corpus callosal abnormalities (CCAs), ranging from thinning and hypoplasia to complete agenesis. Previous studies attempting to delineate the ...
Rampazzo Enrica - - 2012
B-cell chronic lymphocytic leukemia is a clinically heterogeneous disease; some patients rapidly progress and die within a few years of diagnosis, whereas others have a long life expectancy with minimal or no treatment. Telomere length and telomerase levels have been proposed as prognostic factors; however, very few cases have been ...
Barros B A - - 2011
BACKGROUNDThe aim of this study was to investigate the frequency of gonadal tumors among patients with Turner syndrome (TS) carrying Y-derivative sequences in their chromosomal constitution.METHODSSix out of 260 patients with TS were selected based on mosaicism of the entire Y chromosome; 10 were included because Y-derivative sequences have been ...
Amos Christopher I CI Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA. - - 2011
We performed a multistage genome-wide association study of melanoma. In a discovery cohort of 1804 melanoma cases and 1026 controls, we identified loci at chromosomes 15q13.1 (HERC2/OCA2 region) and 16q24.3 (MC1R) regions that reached genome-wide significance within this study and also found strong evidence for genetic effects on susceptibility to ...
Tan Minjia M Ben May Department of Cancer Research, The University of Chicago, Chicago, IL 60637, - - 2011
We report the identification of 67 previously undescribed histone modifications, increasing the current number of known histone marks by about 70%. We further investigated one of the marks, lysine crotonylation (Kcr), confirming that it represents an evolutionarily-conserved histone posttranslational modification. The unique structure and genomic localization of histone Kcr suggest ...
Roy S K - - 2011
Bimolane has been commonly used in China for the treatment of psoriasis and various types of cancer. Patients treated with bimolane have been reported to have an increased risk of developing therapy-related leukemias. Although bimolane has been identified as a human leukemia-inducing agent, little is known about its genotoxic effects, ...
Milner Jo - - 2011
Comment on: Fatoba ST, et al. Cell Cycle 2011; 10:2317-22.
Patkar Nikhil - - 2011
Abstract In a first series from India, we report 9 cases of Hepatosplenic T cell lymphoma (HSTCL) seen in 23 months accounting for 4.2% of all mature T-NHLs in our institution. All patients presented with organomegaly, cytopenias and had evidence of bone marrow involvement. The tumor cells had a blastic ...
Furth Noa - - 2011
Comment on: Yabuta N, et al. Cell Cycle 2011; 10: 2724-36.
James Paul A - - 2011
Chimerism, when more than one genetically distinct cell line originating in different zygotes is present in a single individual, is a rare event in humans but has been described more than 50 times in the literature. Nearly all the described cases have been detected due to discordance in the cell ...
Persson Fredrik - - 2011
Polymorphous low-grade adenocarcinoma (PLGA) is a malignancy predominantly originating from the minor salivary glands. The molecular events underlying the pathogenesis of PLGA is poorly understood and no recurrent genetic aberrations have so far been identified. We used genome-wide, high-resolution aCGH analysis to explore genomic imbalances in 9 cases of PLGA. ...
Lucioni Marco - - 2011
Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN) is a rare and aggressive malignancy derived form precursors of plasmacytoid dendritic cells. We analyzed 21 cases with array-based comparative genomic hybridization (array-CGH). Complete or partial chromosomal losses largely outnumbered the gains, with common deleted regions (CDR) involving 9p21.3 (CDKN2A/CDKN2B), 13q13.1-q14.3 (RB1), 12p13.2-p13.1 (CDKN1B), ...
Tassano Elisa - - 2011
We report on a pediatric case of mixed phenotype acute leukemia with myeloid and T-lymphoid differentiation, a single myeloblastic cell population, and a monosomal complex karyotype. The patient, a 5-year-old girl, responded to acute myeloid leukemia-oriented therapy that was decided based on the morphological appearance of blast cells. In this ...
Danner Bernhard C - - 2011
Non-small cell lung cancer (NSCLC) is one of the most aggressive tumors, with a very low overall survival rate. We investigated surgically resected squamous cell carcinoma (SCC) and adenocarcinoma (AC) to identify chromosomal imbalances and their value for individual prognostication. A total of 80 cases, including 55 SCC and 25 ...
Marchal Juan Alberto JA Institute of Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany. - - 2011
Primary autosomal recessive microcephaly (MCPH) is a congenital disorder characterized by a pronounced reduction of brain size and mental retardation. We present here a consanguineous Turkish family clinically diagnosed with MCPH and without linkage to any of the known loci (MCPH1-MCPH7). Autozygosity mapping identified a homozygous region of 15.8 Mb ...
Jayaram Makkuni - - 2011
The genetically defined point centromeres of budding yeasts and the epigenetically specified regional centromeres of all other eukaryotes harbor a common epigenetic mark in the form of a non-standard nucleosome. Although, the composition of the protein core of the centromere specific nucleosome and the nature of the DNA wrap around ...
Foroutan Behzad - - 2011
Alterations of the p53 gene at 17p13.1 as well as the gene for a transmembrane p-glycoprotein, ABCB1 (MDR-1) at 7q21.12, have been shown to be mostly associated with the phenomenon of multi-drug resistance (MDR) in human cancers. In order to better understand the mechanisms by which chemoresistance is mediated, non-hodgkin's ...
Veigaard Christopher - - 2011
Among patients with acute myeloid leukemia (AML), the rare group of complex aberrant karyotypes characterized by high hyperdiploidy (HH) is a subset with poor prognosis. Because of their rarity, few conventional cytogenetic studies have specifically addressed these patients. To identify DNA copy number aberrations at the submicroscopic level, we applied ...
Weier Heinz-Ulrich G HU Life Sciences Division, E.O. Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley, CA 94720, - - 2011
Recurrent translocations are well known hallmarks of many human solid tumors and hematological disorders, where patient- and breakpoint-specific information may facilitate prognostication and individualized therapy. In thyroid carcinomas, the proto-oncogenes RET and NTRK1 are often found to be activated through chromosomal rearrangements. However, many sporadic tumors and papillary thyroid carcinomas ...
Rane Neena S - - 2011
We previously located a senescence gene locus (SEN6A), at chromosome 6q14-21 by a functional strategy using chromosome transfer into immortal ovarian tumor cells. To further elucidate the SEN6A locus, intact chromosome 6 or 6q was transferred into rat ovarian tumor cells and a panel of immortal revertant clones of senescent ...
Vezzoli Pamela - - 2011
Abstract Lymphoblastic lymphoma (LBL) is a neoplasm of precursor B- or T lymphocytes; primary skin's involvement is uncommon. The aim of the study was to review all the reported primary cutaneous (PC)-LBLs and to examine three new cases to better characterize this neoplasm. Two of our patients showed a pre-B ...
Ukaji Takao - - 2011
Hybridomas, generated by fusing myeloma cells with B lymphocytes, secrete monoclonal antibodies (mAbs) specific for an antigen. To establish hybridomas that secrete Mongolian gerbil (Meriones unguiculatus) mAbs, we immunized gerbils with keyhole limpet hemocyanin (KLH) and fused splenocytes from them with a non-secreting mouse myeloma cell line (P3-X63-Ag8.653). We obtained ...
Crespo Inês - - 2011
Glioblastomas are cytogenetically heterogeneous tumors that frequently display alterations of chromosomes 7, 9p, and 10q. We used high-density (500K) single-nucleotide polymorphism arrays to investigate genome-wide copy number alterations and loss of heterozygosity in 35 primary glioblastomas. We focused on the identification and detailed characterization of alterations involving the most frequently ...
Ayed Yosra - - 2011
Zearalenone (ZEN) is a non-steroidal estrogenic mycotoxin produced by Fusarium fungi. It contaminates different components of the food chain and can cause serious economic and public health problems. The major metabolites of ZEN in various animal species are alpha- and beta-zearalenol (α-, β-ZOL). Some in vivo studies have shown that ...
Hada Megumi - - 2011
Cells deficient in ATM (product of the gene that is mutated in ataxia telangiectasia patients) or NBS (product of the gene mutated in the Nijmegen breakage syndrome) show increased yields of both simple and complex chromosomal aberrations after high doses (>0.5Gy) of ionizing radiation (X-rays or γ-rays), however less is ...
De Braekeleer Etienne - - 2011
Chromosomal rearrangements involving the MLL gene have been associated with many different types of hematological malignancies. Fluorescent in situ hybridization with a panel of probes coupled with long distance inverse-PCR was used to identify chromosomal rearrangements involving the MLL gene. Between 1995 and 2010, 27 patients with an acute leukemia ...
Peterson Esther A EA Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, - - 2011
Septins are highly conserved cytoskeletal GTP-binding proteins implicated in numerous cellular processes from apoptosis to vesicle trafficking. Septins have been associated with leukemia and solid tumor malignancies, including breast, ovarian, and prostate. We previously reported that high SEPT9_i1 expression in human mammary epithelial cell lines (HMECs) led to malignant cellular ...
Louis-Brennetot Caroline - - 2011
The MDM2 and CDK4 genes are the main targets of chromosome 12 amplification in well-differentiated and dedifferentiated liposarcomas. Nevertheless, around 10% of these tumors do not amplify CDK4. To find substitutive alterations of CDK4 amplification, we analyzed a large series of liposarcomas by array-CGH, real-time genomic PCR, gene expression array, ...
Solomon David A - - 2011
Most cancer cells are characterized by aneuploidy, an abnormal number of chromosomes. We have identified a clue to the mechanistic origins of aneuploidy through integrative genomic analyses of human tumors. A diverse range of tumor types were found to harbor deletions or inactivating mutations of STAG2, a gene encoding a ...
Ripperger Tim - - 2011
Juvenile myelomonocytic leukaemia (JMML) is a unique myeloproliferative disorder of early childhood. Frequently, mutations in NRAS, KRAS, PTPN11, NF1 or CBL are found in these patients. Monosomy 7 is the most common cytogenetic aberration. To identify submicroscopic genomic copy number alterations, 20 JMML samples were analysed by comparative genomic hybridization. ...
Chen Zhenwen - - 2011
Eur J Clin Invest 2011 ABSTRACT: Background  Topoisomerase IIα (topo IIα) protein expression has prognostic significance in many cancers. However, it is still unclear whether topo IIα protein expression and gene alterations play roles as prognostic factors in diffuse large B-cell lymphoma (DLBCL). Materials and methods  We selected 102 patients ...
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