Amplification of immunoglobulin gene rearrangements in bone marrow. Medical search. Frequent questions

As previously reported, 2 CDK6 overexpression can result from aberrant variable-diversity-joining (VDJ) or variable-joining (VJ) recombination, leading to the juxtaposition of the CDK6 gene with the Ig gene enhancer during B-cell differentiation. (ashpublications.org)
To reduce the risk of analyzing cell line- pathway can be divided into distinct stages based on the specific features, we used several representative cell lines for recombination status of the Ig genes and on the expression each of four major stages in B cell development: pro-B, pre-B, pattern of surface markers and the presence of intracellular proteins [1- 6]. (lu.se)
In all five CLLs, the pattern of C mu DNA probe hybridization to the digested genomic DNAs was consistent with deletion of the C mu exon from the rearranged Ig gene locus, suggesting that these CLL B cells had undergone DNA switch recombination. (omicsdi.org)
DNA double-strand breaks (DSBs) introduced in the switch (S) regions are intermediates during immunoglobulin class switch recombination (CSR). (silverchair.com)

A bone marrow biopsy also showed presence of lymphoma. (basicmedicalkey.com)

It also reveals the sequences of clonal rearrangements, therefore, the multiclonal structure, of BCP-ALL. (frontiersin.org)
Two indicators of clonal complexity were used, namely, the number of foster clones, described as clones with similar D-N 2 -J rearrangements but other V-rearrangement and N 1 -joining, and the maximum across all foster clones of the number of evolved clones from one foster clone. (frontiersin.org)
They also suggest that Ag may play a role in the clonal selection of some of these isotype-switched leukemic cells, but bcl-1 and bcl-2 oncogene rearrangements and p53 tumor suppressor gene mutation are not associated with the pathogenesis of isotype-switched CLLs. (omicsdi.org)
ALL cells can be recognized by their clonal rearrangement of immunoglobulin and T-cell receptor genes, expression of gene fusions, and leukemia-associated immunophenotypes. (ashpublications.org)
Because ALL cells arise from the oncogenic transformation of a single lymphoid precursor, they have clonal antigen-receptor (immunoglobulin and/or T-cell receptor) gene rearrangements in most cases, which can be used to distinguish ALL cells from normal lymphoid cells (expressing gene rearrangements with different sequences) and nonlymphoid cells (lacking the rearrangements). (ashpublications.org)
Acute lymphoblastic leukemia (acute lymphocytic leukemia, ALL) is a malignant (clonal) disease of the bone marrow in which early lymphoid precursors proliferate and replace the normal hematopoietic cells of the marrow. (medscape.com)
Recently, a second clonal event involving the HMGA2 gene was reported in some PNH cases, and over expression of this gene was postulated to promote proliferation of the mutated clone. (annexpublishers.co)

BCL-6 genes produce BCL-6 proteins. (wikipedia.org)
BCL-6 proteins repress genes involved in terminal differentiation and promote proliferation by blocking expression of a cell-cycle inhibitor (p27KIP1). (wikipedia.org)
We discovered that low levels of immunoglobulins could occur by loss of these proteins into the gastrointestinal tract due to endogenous hypercatabolism as well as by nonsynthesis. (nih.gov)
DNA-dependent protein kinase catalytic subunit (DNA-PKcs), encoded by PRKDC gene, is a member of the phosphatidylinositol 3-kinase-related kinase (PIKK) family, which also includes the two DNA damage repair proteins, ataxia telangiectasia mutated (ATM) and ATM and Rad3-related protein (ATR). (molcells.org)
Our studies have demonstrated that several of the proteins encoded by cellular oncogenes function in fundamental aspects of gene regulation. (stanford.edu)

A gene translocation between chromosome 14 (containing the antibody heavy chain locus) and chromosome 18 (containing the BCL-2 locus) is present in 45% of GCB DLBCLs but has never been found in ABC DLBCLs. (wikipedia.org)
High-throughput sequencing (HTS) of the immunoglobulin heavy chain ( IgH ) locus is a recent very efficient technique to monitor minimal residual disease of B-cell precursor acute lymphoblastic leukemia (BCP-ALL). (frontiersin.org)
The t(7;14) involved the immunoglobulin heavy chain ( IgH ) locus in 14q32 and a transposon-like element located 29 kbp upstream of the CDK6 coding sequence. (ashpublications.org)
FISH and Southern blot analysis showed that an interesting common feature was that in all 3 cases the CDK6 gene was rearranged by reciprocal translocations involving either Ig κ, Ig λ, or IgH locus and not with only the Ig κ light chain locus as has previously been reported in other series. (ashpublications.org)
Initially identified as the fusion partner of the immunoglobulin heavy chain gene locus in the classic t(14;18) translocation of follicular lymphoma (FL), BCL2 overexpression was recognized to confer resistance to apoptosis [ 2 ]. (biomedcentral.com)
Second, fluorescence in situ hybridization was conducted for the region containing the HMGA2 gene in addition to expression analysis, to study the recurrence of changes at this locus. (annexpublishers.co)

2 To make the diagnosis of SM, bone marrow histology must show, by definition, at least one compact or dense mast cell (MC) infiltrate. (bmj.com)

Marked overexpression of CDK6 was observed in all 3 patients with CDK6 rearrangement compared with normal peripheral blood lymphocytes and with B-CLL without CDK6 involvement ( Figure 1 ). (ashpublications.org)
immature cell is then subjected to negative selection to delete grouped based on their previously defined pheno- self-reactive cells before it leaves the BM to enter peripheral typic features, and a gene expression pattern for lymphoid organs, where it becomes a mature B cell [9]. (lu.se)
Considering these recent demands, we aimed to optimize a highly sensitive molecular system based on the rearranged immunoglobulin (Ig) genes to monitor MRD from peripheral blood. (bvsalud.org)
A slow clearance of leukemic cells by the initial course of chemotherapy, as measured by the morphologic analysis of peripheral blood or bone marrow smears 1 to 3 weeks from diagnosis, predicts a higher risk of relapse, but can be inaccurate because ALL blast cells are remarkably similar in appearance to bone marrow lymphoid precursors (alias hematogones) and, in some instances, to mature lymphocytes. (ashpublications.org)
Several drug therapies are valuable in the treatment of symptomatic MM. Clinicians treat many patients with high-dose therapy and peripheral blood or bone marrow stem cell transplantation. (medscape.com)

B-cells within the germinal center proliferate and undergo immunoglobulin somatic hypermutation (SHM) of IgV region genes to revise their antigen receptors. (wikipedia.org)

Subsequent differentiation allows for rear- analysis of a set of mouse B lineage cell lines rep- rangements of the Ig light-chain (IgL) genes that replace the resenting defined stages of B cell development us- surrogate light-chain genes on the surface of the B cell [8]. (lu.se)
During the maturation of B cells, the cells first express a rearranged μ heavy chain gene, which associates with the surrogate light chain to produce the pre-B cell receptor (see Chapter 4 ). (basicmedicalkey.com)

The SHM that occurs in the germinal center can also target non-immunoglobulin loci and may be responsible for translocation of the BCL-6 gene. (wikipedia.org)

We are studying the role that normal chromatin structure plays in gene regulation in hematopoietic cells and how its disruption leads to altered development and cancer. (stanford.edu)
This mechanism also applies to hematopoietic cells transformed by other HOX genes, including CDX2, which is highly expressed in a majority of acute myeloid leukemias, thus providing a molecular approach based on GSK-3 inhibitory strategies to target HOX-associated transcription in a broad spectrum of leukemias. (stanford.edu)

Acute lymphoblastic leukemia (ALL): Bone marrow shows proliferation of large and heterogeneous lymphoblasts consistent with pre-B-cell ALL (French-American-British L2 morphology). (medscape.com)
Based on this finding, HMGA2 was considered to be a candidate driver gene, as ectopic expression induced cellular proliferation [ 12 ]. (annexpublishers.co)

Testing should be performed for patients with an established diagnosis of a BCR-ABL1 -positive leukemia to guide treatment Testing for BCR-ABL1 detects the Philadelphia chromosome and BCR-ABL1 fusion gene or its transcripts, which are the RNA copies made by the cell from the abnormal stretches of DNA. (netlify.app)
Ph-positiv ALL är ovanlig hos barn men Philadelphia-chromosome-positive acute lymphoblastic leukemia, based on immunoglobulin/T-cell receptor and BCR/ABL1 methodologies. (netlify.app)
This arrest is caused by an abnormal expression of genes, often as a result of chromosomal translocations or abnormalities of chromosome number. (medscape.com)
[ 1 ] As this gene is carried on the X chromosome, the disease usually manifests in males and is transmitted by females who carry the causative mutation on one of their X chromosomes. (medscape.com)
They described two patients with PNH with an acquired rearrangement of chromosome 12 affecting the HMGA2 gene, which encodes a chromatin remodeling protein, in the PIGA mutant cells [ 12 ]. (annexpublishers.co)
HMGA2 is located in an area on chromosome 12q13 frequently involved in translocations and amplifications in benign, mesenchymal tumors. (annexpublishers.co)

[ 6 ] The lymphomatous infiltrate in some bone marrow specimens from these AILD patients contained numerous small or scattered large B cells, and these cells resembled either benign lymphoid aggregates or T-cell-rich large B-cell lymphoma, respectively. (medscape.com)

Biopsies of the bone marrow, lymph node, and skin are key in diagnosing AILD (see Workup). (medscape.com)
Bone marrow core biopsies demonstrate diffuse replacement of normal marrow elements by uniform sheets of round to oval lymphoblasts with indented to convoluted nuclei [ 9 ] (Figure 1 ). (biomedcentral.com)

the gene expression profile during B lymphoid differentiation. (lu.se)
The occurrence of switching without the accumulation of V gene mutations indicates that the processes of differentiation and diversification are not linked. (omicsdi.org)

Monoclonal rearrangements of IgH and TCRγ were studied using seminested polymerase chain reaction (PCR). (bmj.com)
No monoclonal rearrangements were seen for IgH or TCRγ. (bmj.com)
In contrast, B cells from immunocytomas showed light chain restriction and monoclonal rearrangement for IgH, confirming their neoplastic nature. (bmj.com)

Most of the expanded clones carried somatically mutated IGHV genes and about half of the mutated clones showed intraclonal diversity. (bvsalud.org)
However, preliminary findings have shown that Ig V genes of IgA and IgG CLLs may be somatically mutated, suggesting that isotype-switched CLLs may represent a "subtype" of the disease. (omicsdi.org)

GCB DLBCL shows amplification of the oncogenic mir-17-92 microRNA cluster and deletion of the tumor suppressor PTEN but these events have not been found in ABC DLBCL B-cells form in the bone marrow and undergo gene rearrangement in order to develop B-cell receptors (BCRs) that bind to a specific antigen. (wikipedia.org)
The genes encoding the components of the T-cell receptors undergo a similar process in T-cell precursors. (ashpublications.org)

Using immunohistochemistry, Grogg et al noted CD10 and CXCL13 staining in bone marrow samples in a subset of patients with AILD. (medscape.com)
To analyze CDK6 involvement in B-CLL, we have examined the status of the CDK6 gene in bone marrow or blood samples from a further 8 adult patients with B-CLL carrying cytogenetic abnormalities (deletions, duplications, or translocations) involving bands 7q21 to 7q22 (1.5% of our B-CLL series). (ashpublications.org)
In 3 patients, involvement of the CDK6 gene was found by at least 2 different methods. (ashpublications.org)
We analyzed a small group of myeloma patients with the high-risk t(4;14) translocation, using next-generation sequencing of Ig genes and droplet digital PCR of patient-specific Ig heavy chain (IgH) sequences. (bvsalud.org)
The molecular data indicate that approximately 50% of B-CLL patients have amplifications of IgM+ B cells that undergo an isotype class switch. (omicsdi.org)
For patients with or without cancer (as defined in the policy), established standard-of-care MRD tests using single-gene PCR (i.e. (codemap.com)
Clinical and Genomic Profiles of Korean Patients with MECOM Rearrangement and the t(3;21)(q26.2;q22.1) Translocation. (atlasgeneticsoncology.org)
Gene landscape and correlation between B-cell infiltration and programmed death ligand 1 expression in lung adenocarcinoma patients from The Cancer Genome Atlas data set. (cancer-genetics.org)

Immunoglobulin Heavy Chain High-Throughput Sequencing in Pediatric B-Precursor Acute Lymphoblastic Leukemia: Is the Clonality of the Disease at Diagnosis Related to Its Prognosis? (frontiersin.org)
RUNX1 and RUNX3 Genes Expression Level in Adult Acute Lymphoblastic Leukemia-A Case Control Study. (atlasgeneticsoncology.org)
Here, we find that persistent mtDNA stress is not associated with basally activated NF-κB signalling or interferon gene expression typical of an acute antiviral response. (regenerativemedicine.net)

Gene expression profiling has revealed that diffuse large B-cell lymphoma (DLBCL) is composed of at least 3 different sub-groups, each having distinct oncogenic mechanisms that respond to therapies in different ways. (wikipedia.org)
1 Chromosomal translocation leading to overexpression of the CDK6 gene, which is located in 7q21, has recently been described in splenic marginal zone lymphoma (SMZL). (ashpublications.org)
Increase of bone marrow lymphocytes in systemic mastocytosis: reactive lymphocytosis or malignant lymphoma? (bmj.com)
To clarify the nature (reactive or neoplastic) of lesional, perifocally aggregated lymphocytes in bone marrow infiltrates of systemic mastocytosis (SM), the histopathology of which can resemble malignant lymphoma with focal bone marrow involvement, particularly low grade malignant B cell lymphoma of lymphoplasmacytic immunocytoma subtype, which frequently exhibits increased mast cell (MC) numbers. (bmj.com)

This T(14,18) translocation places the BCL-2 gene close to the heavy chain gene enhancer and results in the overexpression of the Bcl-2 protein. (wikipedia.org)
This gene encodes subunit 1 of the splicing factor 3b protein complex. (cancer-genetics.org)
What does this gene/protein do? (cancer-genetics.org)
In 1944 it was realized that genetic transformation in bacteria was due to DNA and not protein and that DNA was the molecule responsible for heredity in genes and chromosomes [ 8 ]. (biomedcentral.com)
Although these systems aren't known completely, research survey that appearance of cyst encoding protein and genes is normally upregulated, like the Wnt/-catenin pathway functionally. (globaltechbiz.com)
a novel epstein-barr virus-latent membrane protein-1-specific t-cell receptor for tcr gene therapy. (liverpool.ac.uk)
here, we describe a tcr gene transfer regimen to rapidly and reliably generate t-cells specific to ebv-encoded latent membrane protein-1 (lmp1), which is a potential target for t-cell-based immunotherapy. (liverpool.ac.uk)
The protein encoded by this gene represents the beta subunit and is a type I membrane protein. (cancer-genetics.org)
What pathways are this gene/protein implicaed in? (cancer-genetics.org)

All cases were reviewed and diagnoses were confirmed based on basic morphology, immunohistochemistry staining, and rearrangement. (biomedcentral.com)

During B-cell development, the V, D, and J segments of the immunoglobulin genes are rearranged, with deletion and random insertion of nucleotides at the junctional sites, generating a unique gene sequence for each cell and its progeny. (ashpublications.org)

methods: characteristics of clinical material, immunological data and gene mutation of two cases with xmen in the same family in china were retrospectively analyzed. (liverpool.ac.uk)

This revealed no aberration of the chromosomal region containing the HMGA2 gene in the cohort, and HMGA2 expression was surprisingly only detectable in a single case. (annexpublishers.co)

The first demonstration that bone marrow samples apparently devoid of ALL cells may, in fact, contain measurable levels of leukemia (ie, "minimal residual disease" or MRD) was provided soon after the advent of polyclonal antisera against leukocyte antigens: combinations of cell markers were used to distinguish T-lineage ALL cells from normal immature and mature lymphocytes by immunofluorescence microscopy. (ashpublications.org)
Focal accumulations of lymphocytes in the bone marrow of SM are reactive in nature and could be termed lymphocytosis. (bmj.com)

Based on high amplification folds, 50 sequences from each library were used to construct phylogenetic trees. (bvsalud.org)
In the IgA/IgG-coexpressing CLL B cells, identical VH-D-JH cDNA sequences were spliced to either C alpha or C gamma genes. (omicsdi.org)

The rearranging of genes makes the cells capable of generating antibodies with a higher or lower affinity to the specified antigen. (wikipedia.org)

Thirteen cases of SM and three of lymphoplasmacytic immunocytoma with predominant focal bone marrow infiltration were investigated. (bmj.com)
The Cancer Genome Atlas (TCGA) LUAD data set was used to explore associations among B-cell infiltration, PD-L1 expression, clinical outcome, and gene landscape. (cancer-genetics.org)

The study utilized immunochemistry, in situ hybridization (ISH), and gene rearrangement to confirm the disease and and performed a clinical follow up for each case. (biomedcentral.com)
The 2016 National Comprehensive Cancer Network (NCCN) Clinical Practice Guidelines also recommend the use of serum free light chain assay and fluorescence in situ hybridization (FISH) for del 13, del 17p13, t(4;14), t(11;14), 1q21 amplification as part of the initial diagnostic workup. (medscape.com)

BCL-6 genes are involved in several cell processes that can affect the ability of the B-cell to differentiate and proliferate. (wikipedia.org)
These aberrant lymphoblasts proliferate, reducing the number of the normal marrow elements that produce other blood cell lines (red blood cells, platelets, and neutrophils). (medscape.com)

If the lymph node cells were analyzed by polymerase chain reaction (PCR) to assess Ig heavy-chain rearrangements, what abnormal finding would you expect? (basicmedicalkey.com)

to test this hypothesis, we analyzed expression of viral and cellular genes in brain-infiltrating immune cells. (liverpool.ac.uk)

In addition, our findings demonstrate the involvement of the CDK6 gene in B-CLL, underlying that those abnormalities are not restricted to SMZL. (ashpublications.org)

Bone marrow aspirate studies show a preponderance of lymphoblasts with high nuclear to cytoplasmic (N:C) ratio, finely dispersed nuclear chromatin, and prominent nucleoli. (biomedcentral.com)
2) We have discovered a group of oncoproteins that are implicated in long-term maintenance of gene expression through their effects on the state of chromatin. (stanford.edu)

Bone marrow aspirate demonstrating plasma cells of multiple myeloma. (medscape.com)

In this study, we performed IgH HTS on the diagnostic bone marrow of 105 children treated between 2004 and 2008 in Belgium for BCP-ALL in the European Organization for Research and Treatment of Cancer (EORTC)-58951 clinical trial. (frontiersin.org)

Here a global analysis of exon usage in AML samples revealed distinct molecular subsets containing alternative spliced isoforms of inflammatory and immune genes. (cancer-genetics.org)
Normal plasma cells are found in the bone marrow and are an important part of the immune system. (invivoscribe.com)

about half of the cases currently have suitable gene fusions. (ashpublications.org)

Misinterpretation of such findings as bone marrow infiltrates of lymphoplasmacytic immunocytoma can easily occur because immunocytomas almost always exhibit a pronounced increase in loosely scattered MCs. (bmj.com)

and (iv) genes harboring germline non-silent variants presumed to confer a risk of sporadic ALL. (haematologica.org)
Two transcript variants encoding distinct isoforms have been identified for the ZO-1 gene. (thermofisher.com)
Variants in blood pressure genes and the risk of Accardi R, Rubino R, Scalise M et col . (2011). (who.int)

These findings suggest that IgA- and/or IgG-expressing CLLs represent, in their VH gene structure, transformants of B cells at different stages of ontogeny. (omicsdi.org)

Sexually Dimorphic Increases in Bone Mass Following Tissue-specific Overexpression of Runx1 in Osteoclast Precursors. (atlasgeneticsoncology.org)

B lymphocyte development is a highly ordered process pro- expression analysis without the use of intermediate amplifica- ceeding from the progenitor cells in the bone marrow (BM) to tion steps. (lu.se)
Methods: We microdissected single CD30+ B cells from tissue sections of eight reactive lymph nodes with substantial numbers of such cells and sequenced their rearranged immunoglobulin (Ig) heavy chain V region (IGHV) genes. (bvsalud.org)
Results: The CD30+ B cells were polyclonal B cells in all instances, and they not only encompass post-germinal center (GC) B cells with mutated IGHV genes, but also include a substantial fraction of pre-germinal center B cells with unmutated IGHV genes. (bvsalud.org)
The immunoglobulin (Ig) variable region (V) genes expressed by IgM chronic lymphocytic leukemia (CLL) B cells display little or no somatic mutations. (omicsdi.org)
These isotype-switched CLL B cells expressed surface HLA-DR, CD19, CD23, and CD5, and displayed no alterations of the bcl-1 and bcl-2 oncogenes and the p53 tumor-suppressor gene. (omicsdi.org)
The cDNA VH-D-JH gene sequence was joined with that of the C alpha gene in the B cells of the three IgA CLLs, and with that of the C gamma gene in the IgG CLL B cells. (omicsdi.org)
Lack of intraclonal diversification in Ig heavy and light chain V region genes expressed by CD5+IgM+ chronic lymphocytic leukemia B cells: a multiple time point analysis. (omicsdi.org)
Most B cells in neonatal Alicia rabbits express V H n allotype immunoglobulin (Ig)M. Within weeks, the number of V H n B cells decreases, whereas V H a allotype B cells increase in number and become predominant. (silverchair.com)
Flow cytometric evaluation of these cells showed a 10-fold excess of B cells expressing λ immunoglobulin (Ig) light chain compared with B cells expressing κ Ig light chain. (basicmedicalkey.com)

The use of cell lines does, however, introduce a risk the immunoglobulin (Ig)-secreting plasma cell in the spleen, of obtaining cell line-specific features as a result of the trans- gut, or BM [1, 2]. (lu.se)

The differences in gene expression between GCB DLBCL and ABC DLBCL are as vast as the differences between distinct types of leukemia, but these conditions have historically been grouped together and treated as the same disease. (wikipedia.org)

PET-CT/CT/MRI scans of the cancerous areas were reviewed to assess the extension of the lesions, including to the bone and thorax. (biomedcentral.com)

In all other class-switched CLLs, the Ig VH segment gene was mutated, but the point mutations were not associated with intraclonal diversification. (omicsdi.org)
These switched transcripts do not reveal evidence for the accumulation of significant numbers of new V(H) gene mutations. (omicsdi.org)

Although these Sμ-Sγ junctions appear to be normal, a significant increase of an unusual type of sequential switching from immunoglobulin (Ig)M, through one IgG subclass, to a different IgG subclass was observed, and the Sγ-Sγ junctions showed long microhomologies. (silverchair.com)

A scholarly research reported that CSP21 gene appearance is dynamic when its particular repressor molecule is removed. (globaltechbiz.com)

Mastocytosis (mast cell disease) is a relatively uncommon haematological tumour of bone marrow origin. (bmj.com)
ALL is a disease of the bone marrow. (biomedcentral.com)
Clinical suspicion for ALL arises with signs and symptoms reflective of bone marrow failure (pancytopenia) and/or extramedullary disease. (biomedcentral.com)

Anatomy33

Organisms12

Diseases42

Chemicals and Drugs63

Analytical, Diagnostic and Therapeutic Techniques and Equipment38

Phenomena and Processes82

Disciplines and Occupations1

Technology, Industry, Agriculture1

Information Science5

Health Care3

Recombination4

Biopsy1

Clonal7

Proteins5

Locus6

Histology1

Peripheral5

Somatic hypermutation1

Surrogate light-chain2

Loci1

Hematopoietic cells2

Proliferation2

Chromosome6

Specimens1

Biopsies2

Differentiation2

Monoclonal3

Somatically mutated2

Receptors2

Patients8

Acute3

Lymphoma4

Protein9

Immunohistochemistry1

Segments1

Mutation1

Chromosomal1

Lymphocytes2

Sequences2

Antibodies1

Infiltration2

Hybridization2

Proliferate2

Abnormal1

Cellular1

Involvement1

Chromatin2

Aspirate1

Diagnostic1

Immune2

Fusions1

Occur1

Variants3

Findings1

Overexpression1

Cells9

Spleen1

Leukemia1

Lesions1

Mutations2

Normal1

Molecule1

Disease3