Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

t(2;18)(p11;q21)IGK/BCL2 and IGK/KDSR

Written2017-09Lubomir Mitev, Lilya Grachlyova, Aselina Asenova
Military Medical Academy, Department of Cytogenetics and Molecular Biology, Sofia, Bulgaria, cytogen.vma@abv.bg

Abstract Review on t(2;18)(p11;q21)IGK/BCL2 and IGK/KDSR, and the dual role of the neighbor genes BCL2 and KDSR

Keywords Chromosome 2; chromosome 18; IGK; KDSR; Follicular lymphoma; Diffuse large B-cell lymphoma; Burkitt lymphoma; Chronic lymphocytic leukemia

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424
ICD-Morpho 9690/3 Follicular lymphoma; Paediatric follicular lymphoma
ICD-Morpho 9680/3 Diffuse large B-cell lymphoma (DLBCL), NOS; Primary DLBCL of the CNS; Primary cutaneous DLBCL, leg type; EBV positive DLBCL of the elderly; DLBCL associated with chronic inflammation; B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and Burkitt lymphoma
ICD-Morpho 9687/3 Burkitt lymphoma
ICD-Morpho 9823/3 Chronic lymphocytic leukaemia /small lymphocytic lymphoma
Atlas_Id 1461
Other namest(2;18)(p11;q21) is a very rare reciprocal translocation described only in a 13 cases with B-lymphoproliferative disorders mainly follicular lymphomas (FL). The anomaly represents a minor variant of the classical t(14;18)(q32;q21) which is the most frequent translocation associated with follicular lymphoma (FL). In contrast to t(14;18) that juxtapose BCL2 with the heavy chain locus, t(2;18) resulted to the juxtaposition of the BCL2 to the kappa light chain locus. Despite of this difference the consequence of t(2;18) is the same as that in t(14;18) - deregulation of BCL2 leading to inhibition of apoptosis and respectively accumulation of a long living B-cells. A molecular variant of t(2;18)(p11;q21), in which the kappa light chain instead with BCL2 is rearranged with the coding region termed FVT-1 (for follicular lymphoma variant translocation - IGK/FVT-1), is also described Rimokh et al. (1993). It was ascertained later that FVT-1 coded the gene of 3-ketodihydroshingosine reductase (KDSR) - a key enzyme in the "de novo" synthetic pathway of ceramide.

Clinics and Pathology

Disease Follicular lymphoma
Phenotype / cell stem origin Germinal centre B-cells, the translocations appears at the pre B-stage of the B-cell differentiation.
Epidemiology t(2;18)(p11;q21) is found in 8 cases (0.5% of all cases with abnormal karyotype) (Konishi H et al., 1990; Leroux D et al., 1990; Bertheas M-F et al., 1991; Juneja S et al., 1997; Horsman DE et al., 2001; Henderson L-J et al., 2004; Bentley G et al., 2005; Babu Rao V et al., 2006). The sex ratio is balanced M:F=1:1. The anomaly is observed mostly in older patients (average age 56 years; range 47-72).
Cytogenetics t(2;18) as a sole anomaly is found only in one case. The other cases are with additional anomalies: 5 cases are with 1 to 4 anomalies and 3 cases are with highly complex karyotypes. In three cases the stemline with t(2;18) is evaluated to subclones with secondary chromosome aberrations.
Additional anomalies Most of the additional anomalies frequently associated with t(14;18) and FL are also present in the described cases with t(2;18): +12 (1 case), +7 (3 cases),$6q- (1 case), +X (3 cases; one with additional deleted X in q22), +5 (1 case), +8 (2 cases) and +der(18)t(2;18) (3 cases; one with 2 copies). In one case t(8;14)(q24;q32) is observed and in another two copies of its minor variant t(8;22)(q24q11) are present. Additional abnormalities of the following chromosomes are also described: chromosome 1 (3 cases - all of them are with 1p or 1q gains as a result of duplication of the segment 1q21q42 (one case) and unbalanced translocations of the segments 1p11qter, 1q11qter and 1q21qter to the different recipient chromosomes including 1, 3, 9, 13 and 15), chromosome 3 (3 cases - two with -3, +3 and unbalanced translocations involving 3p11, q12 and q21 and one with t(3;3)(p21;q23) as a second anomaly in the stemline), chromosome 13 (2 cases - one with interstitial deletion of the segment q13q31 and one with translocation involving 13q34) and chromosome 15 (3 cases - one with interstitial deletion of the segment 15q12q15 and translocations involving 15q12, one with der(15)t(1;15)(p11;p11) and one with t(6;15)). Gains of 2p, 18 and 21 as well as losses of 1p, 10q and 17p that are frequently associated with FL with t(14;18) are not reported.

Disease Other B-lymphoproliferative disorders
Epidemiology (2;18) is found in 5 cases: 2 cases (0.14% of all cases with abnormal karyotype) with diffuse large B-cell lymphoma (DLBCL) (females; one with age 56 year)(Hillion J et al., 1991; Macpherson N et al., 1999), 1 case (0.14% of all cases with abnormal karyotype) with mature B-cell neoplasm, NOS (MBCN) (male) (Tomita N et al,. 2009), 1 case (0.11% of all cases with abnormal karyotype) with Burkitt lymphoma/leukemia (BL) (37-year-old female) (Hillion J et al.,1991) and 1 case (0.04% of all cases with abnormal karyotype) with chronic lymphocytic leukemia (CLL) (55-year-old male) (Dyer MJS et al., 1994).
Cytogenetics Only the case with CLL is with one additional anomaly. All remaining cases are with complex karyotypes.
Additional anomalies Some of the additional anomalies associated with t(14;18) are found: +12 (1 case with CLL and 1 with DLBCL), +X (1 case with DLBCL) and +18 (1 case with DLBCL). Abnormalities of chromosome 1 are reported in all cases except in the patient with CLL (1 case is with +der(1)(q12), 1 with t(1;9)(p34;p22), 1 with i(1)(q10) and 1 with add(1)(p36)). Chromosome 3 abnormalities is present in 2 cases with DLBCL - one is with add(3)(p25) and add(3)(q21) and one with t(3;22)(q27;q11). In one case with DLBCL t(8;14)(q24;q32) is described and in another with MBCN the same anomaly in combination with der(14)t(8;14)(q24;q32).

Genes involved and Proteins

Gene NameIGK
Location 2p11.2
Dna / Rna IGK contains approximately 40 functional IgV (variable) genes, 5 IgKJ (Joining) genes and one IgKC (Constant) gene.
Protein IGK encodes the immunoglobulin light chain kappa. The kappa chain is composed of an N-terminal variable region containing the antigen-binding site (encoded by one of the V and one of the J genes) and a C-terminal constant region (encoded by the C region gene). This structure of the Ig K chain is assembled by V-J rearrangement events followed by joining of the C gene to the V-J segment by RNA splicing.
Gene NameBCL2
Location 18q21.3
Dna / Rna BCL2 contains 3 exons and produces by alternative splicing 3 types of transcripts (a, b and c) encoding 2 different protein isoforms.
Protein BCL2 belongs to the Bcl2 antiapoptotic Bcl2 family proteins ( BCL2L2 (BCLW), MCL1, BCL2A1 (BFL1)) that have similar 3D structure and four Bcl2 homology (BH1-4) domains. Bcl2 blocks cell death preventing the release of cytochrome c from the mitochondria by inactivating their proapoptotic Bcl2 family counterparts ( BAX, BAK1, BCL2L11 (BIM), BID, BAD, BIK, BMF) and by inhibition the inositol 1,4,5-triphosphate receptor (Rong YP et al., 2009; Monaco G et al., 2012).
Gene NameKDSR
Location 18q21.3
Dna / Rna KDSR contains 10 exons and its transcription produces 13 different mRNAs, 11 alternatively spliced variants and 2 unspliced forms.
Protein KDSR encodes a putative secreted protein of 36kD that is a member of the short-chain dehydrogenases/reductases family. The protein localizes to the endoplasmic reticulum (ER) and catalyzes the reduction of 3-ketodihyrosphingosine to dihydrosphingosine in the "de novo" synthetic pathway of ceramide. Contains an N-terminal transmembrane segment, followed by a large hydrophilic domain, 2 C-terminal transmembrane segments, and a KKxx-type endoplasmic reticulum (ER) retention signal at its C terminus.

Result of the chromosomal anomaly

Hybrid gene
Description No hybrid gene is created. T(2;18) IgK/BCL2 leads to the juxtaposition of BCL2 near the enhancer sequences of the IgK gene. In contrast to the distribution of the breakpoints in BCL2 of the classical t(14;18) that are clustered in the majority of cases within the major (MBR) and minor breakpoint cluster region and more rarely within the 5'- flanking region of BCL2, the breakpoints in the BCL2 locus in t(2;18) occurs only in the 5' flanking region of the BCL gene termed the variant cluster region (VCR) (Larsen CJ et al., 1990; Hillion J et al., 1991; Bertheas M-F et al., 1992; Yabumoto K et al., 1996). The BCL2 coding region is not affected, because the breakpoints in VCR are distributed upstream of the translational initiation site of the BCL2 gene. On the other hand the locations of the breakpoints in the IgK gene are diverse. DNA breakage as a result of 5'-BCL2/IgK junctions have been described in the region of the intronic sequences, joining segments and k-deleting element (Yonetani N et al., 2001). In some cases with t(2;18) head-to-tail configuration of the BCL2 and IgK genes have been recognized. In the molecular variant IgK/KDSR (FVT-1) the breakpoints on 18q21 and 2p11 occurred in the last intron of FVT-1 and within the J4 segment of the Jk region respectively. As a result of the translocation the promoting region and the 5' part of the coding sequence of FVT-1 is juxtaposed to the Vk -Jk region of the kappa light chain on the der(2) chromosome.
  
Fusion Protein
Description Fusion protein in the cases with BCL2/IgK rearrangements is not produced. The kappa immunoglobulin enhancer induces BCL2 overexpression.
Oncogenesis The consequence of t(2;18) is the same as in the t(14;18). The overproduction of the Bcl2 protein blocks the apoptosis and promotes prolonged B-cell survival. But the differences in the molecular structure of both rearrangements possibly predispose difference in the levels of BCL2 expression. It was found that the cases and tumor cell lines with 5'-BCL2/Ig (including 5'-BCL2/IgK) rearrangements have markedly higher levels of BCL transcripts (as well as expression of BCL2 protein by immunocytochemistry staining) than those of BCL2/IgH with breakpoints in MBR or 3'-MBR (Dyer MJS et al., 1993; Yonetani N et al., 2001). In the molecular variant IgK/FVT-1 the FVT-1 disruption resulted in the constitution of a chimeric Vk -Jk-5' FVT-1 gene in a tail-to-tail configuration. On the other hand the BCL2 is juxtaposed to the kappa light chain locus in the vicinity of the 5' kappa gene enhancer leading to its overexpression. Therefore the molecular pathogenesis of this variant of t(2;18) is also linked to the deregulation of BCL2 and not to the FVT-1.
  

To be noted

The dual role of the neighbor genes BCL2 and KDSR Rimokh et al. (1993) proposed that both genes BCL2 and FVT-1 (KDSR) participate in the pathogenesis of the non-Hodgkin lymphoma with t(14;18)(q21;q32). Their suggestion is based on the proximity of both genes and that in t(14;18) with break at the 3' end of BCL2, the FVT-1 and BCL2 genes are juxtaposed to the Ig heavy chain locus and might be both deregulated. The fact that FVT-1 is expressed in t(14;18) associated with lymphomas and cell lines confirmed this hypothesis. It seems likely that both evolutionary conserved neighbor genes participate not only in oncogenesis but also in the regulation of normal cellular processes. KDSR is crucial for "de novo" synthesis of ceramide and sphingosine-1 phoshate (S1P) - intermediates of sphingolipid catabolism that are involved as BCL2 in the regulation of apoptosis (cereamide is apoptotic and S1P is anti-apoptotic regulator) and neuronal growth and development (Ryu JR et al., 2016, Riebeling C&Futerman AH 2013, Kono M et al., 2014). Possibly it is non-random that the evolutional step when BCL2 and KDSR became neighbors coincides with the appearance of the vertebrates. During phylogeny with small exceptions the distance between both genes is gradually shortened and reached 7598 bp in humans - approximately twice shorter than the distance between BCL2 and KDSR of our nearest living relative - the chimpanzee (13189 bp). These changes of the distance between both genes is a part of one general regularity of DNA alterations including deletions in the non-coding regions that resulted in the formation of close proximity located genes in the human genome compared with the nonhuman primate genomes (McLean CY et al., 2011). Because the chimpanzee shared 98.5 percent similarity with the human protein coding loci (Mikkelsen TS et al., 2005) and the main difference is the changes of non-coding DNA sequence, it was supposed that this event has an important role in human evolutionary divergence (McLean CY et al., 2011). On the other hand, significantly higher incidence of cancer has been found in humans than in chimpanzees (Beniashvili DS, 1989, Varki A, 2000). Possibly, brain evolution and cancer frequency are mutually linked with the genome changes in the non-coding regions. It was hypothesized that the increased brain size and the propensity for cancer may both be associated at least in part with difference in apoptotic function because the rate of apoptosis in humans is reduced relative to the chimpanzee (Arora G et al., 2012, Arora G et al., 2009). Except the difference in apoptotic regulation a great number of genetic and epigenetic regulatory differences have been found between the two species (Fukuda K et al., 2013, Uddin M et al., 2004, Nowick K et al., 2009, Khan Z et al., 2013) that are linked to the influence of interspersed elements (particularly retrotransposones) in the non-coding regions (Bowen NJ & Jordan IK, 2002, van de Lagemaat LN et al., 2003, Fescotte C, 2008, Polavarapu N et al., 2011). But even an evolutional advantage in the regulation of the neighbors BCL2 and KDSR could not be able to induce production of high level of BCL2 protein and at the same time to modulate the ceramide/S1P rheostat in order to produce high level of S1P necessary for the rapid brain development during human embryogenesis. Obviously, this requires more complex regulatory mechanisms. Moreover, the experiments of Meadows et al., 2010) on fruit fly Drosophila, in which by targeted chromosomal inversion testis-specific neighbors genes were split up, clearly demonstrated that there is no significant difference in gene expression between the flies with the inversion and those without. The negative results of Meadows et al., 2010) showed that the expression of the neighbor genes does not depends on their positioning and directed to another possible explanation of their role in human evolution - the biological relevance of the gene proximity is to provide long range interactions between one or more sets of neighbor genes or between neighbor genes and regulatory elements (promotor-enhancer interactions) from different chromosomes (or chromosome loci) during its expression. The epigenetic alterations in the regulation of the insulators by the transposable elements, as well as the proximity of the neighbor genes may have allowed effective long distance moving of the DNA loops in the nucleus. One genome organization in humans based on the expression of multi gene assembly (active chromatin hubs) could be a prerequisite for a great diversity of expression patterns - an essential condition for the development and maintenance of the human brain and especially of the frontal lobe where the most complex transcription activities were found (Konopka et al., 2012, Pletikos et al., 2014). But the expression mechanisms based on the gene interactions have their fault - a risk of more recombination events which could explain the increased predisposition for cancer in humans. In this view, future studies on KDSR and BCL2 and more precisely on their possible interactions with enhancers from other genes (including immunoglobulin enhancers) during their normal expression could clarify the role of both genes in brain development and apoptotic regulation, as well as the mechanisms of the appearance of lymphoma associated anomalies as t(14;18) and its variants.

Bibliography

Transposable elements and the evolution of eukaryotic complexity
Bowen NJ, Jordan IK
Curr Issues Mol Biol. 2002 Jul;4(3):65-76
PMID 12074196
 
Differences in human and chimpanzee gene expression patterns define an evolving network of transcription factors in brain
Nowick Katja, Gernat Tim, Almaas Eivind, and Stubbs Lisa
Proc Natl Acad Sci U S A. 2009 Dec 29; 106(52): 22358-22363
PMID 2799715
 
Sister grouping of chimpanzees and humans as revealed by genome-wide phylogenetic analysis of brain gene expression profiles
Uddin M1, Wildman DE, Liu G, Xu W, Johnson RM, Hof PR, Kapatos G, Grossman LI, Goodman M
Proc Natl Acad Sci U S A. 2004 Mar 2;101(9):2957-62. Epub 2004 Feb 19
PMID 14976249
 
Human cells display reduced apoptotic function relative to chimpanzee cells
Arora G, Mezencev R, McDonald JF
PLoS One. 2012;7(9):e46182. doi: 10.1371/journal.pone.0046182. Epub 2012 Sep 28
PMID 23029431
 
Did natural selection for increased cognitive ability in humans lead to an elevated risk of cancer?
Arora G, Polavarapu N, McDonald JF
Med Hypotheses. 2009 Sep;73(3):453-6. doi: 10.1016/j.mehy.2009.03.035. Epub 2009 May 5
PMID 19409719
 
Hybrid cytogenetics of chronic lymphocytic leukemia and follicular cell lymphoma in a case of non-Hodgkin's lymphoma.
Babu Rao V, Kerketta L, Madkaikar M, Farah J, Ghosh K
Acta Haematol. 2006;116(2):150-2.
PMID 16914914
 
An overview of the world literature on spontaneous tumors in nonhuman primates
Beniashvili DS
J Med Primatol. 1989;18(6):423-37
PMID 2693732
 
Variant t(14;18) in malignant lymphoma: a report of seven cases.
Bentley G, Palutke M, Mohamed AN.
Cancer Genet Cytogenet. 2005 Feb;157(1):12-7.
PMID 15676141
 
Molecular study of a variant translocation t(2;18)(p11;q21) in a follicular lymphoma.
Berthéas MF, Rimokh R, Berger F, Gaucherand M, Machado P, Vasselon C, Calmard-Oriol P, Jaubert J, Guyotat D, Magaud JP.
Br J Haematol. 1991 May;78(1):132-4.
PMID 2043472
 
Ceramide in the Regulation of Neuronal Development: Two Faces of a Lipid
Christian Riebeling and Anthony H Futerman
Austin (TX): Landes Bioscience; 2000-2013
PMID NBK6323
 
BCL2 translocations in leukemias of mature B cells.
Dyer MJ, Zani VJ, Lu WZ, O'Byrne A, Mould S, Chapman R, Heward JM, Kayano H, Jadayel D, Matutes E, et al.
Blood. 1994 Jun 15;83(12):3682-8
PMID 8204892
 
Transposable elements and the evolution of regulatory networks
Feschotte C
Nat Rev Genet. 2008 May;9(5):397-405. doi: 10.1038/nrg2337
PMID 18368054
 
Delineation of a minimal region of deletion at 6q16.3 in follicular lymphoma and construction of a bacterial artificial chromosome contig spanning a 6-megabase region of 6q16-q21.
Henderson LJ, Okamoto I, Lestou VS, Ludkovski O, Robichaud M, Chhanabhai M, Gascoyne RD, Klasa RJ, Connors JM, Marra MA, Horsman DE, Lam WL
Genes Chromosomes Cancer. 2004 May;40(1):60-5
PMID 15034870
 
A variant translocation t(2;18) in follicular lymphoma involves the 5' end of bcl-2 and Ig kappa light chain gene.
Hillion J, Mecucci C, Aventin A, Leroux D, Wlodarska I, Van Den Berghe H, Larsen CJ.
Oncogene. 1991 Jan;6(1):169-72.
PMID 1899478
 
Analysis of secondary chromosomal alterations in 165 cases of follicular lymphoma with t(14;18).
Horsman DE, Connors JM, Pantzar T, Gascoyne RD.
Genes Chromosomes Cancer. 2001 Apr;30(4):375-82.
PMID 11241790
 
Control of adult neurogenesis by programmed cell death in the mammalian brai
Jae Ryun Ryu, Caroline Jeeyeon Hong,#Joo Yeon Kim, Eun-Kyoung Kim, Woong Sun, and Seong-Woon Yu
Mol Brain. 2016; 9: 43
PMID 4839132
 
Lymphomas with concurrent BCL2 and MYC translocations: the critical factors associated with survival.
Johnson NA, Savage KJ, Ludkovski O, Ben-Neriah S, Woods R, Steidl C, Dyer MJ, Siebert R, Kuruvilla J, Klasa R, Connors JM, Gascoyne RD, Horsman DE
Blood. 2009 Sep 10;114(11):2273-9. doi: 10.1182/blood-2009-03-212191. Epub 2009 Jul 13.
PMID 19597184
 
Prognostic value of cytogenetic abnormalities in previously untreated patients with non-Hodgkin's lymphoma.
Juneja S, Matthews J, Lukeis R, Laidlaw C, Cooper I, Wolf M, Ironside P, Garson OM.
Leuk Lymphoma. 1997 May;25(5-6):493-501
PMID 9250820
 
Regional DNA methylation differences between humans and chimpanzees are associated with genetic changes, transcriptional divergence and disease genes
Kei Fukuda, Kenji Ichiyanagi, Yoichi Yamada, Yasuhiro Go, Toshifumi Udono, Seitaro Wada, Toshiyuki Maeda, Hidenobu Soejima, Naruya Saitou, Takashi Ito and Hiroyuki Sasaki
Journal of Human Genetics (2013)
PMID 23739127
 
Primate transcript and protein expression levels evolve under compensatory selection pressures
Khan Z, Ford MJ, Cusanovich DA, Mitrano A, Pritchard JK, Gilad Y
Science. 2013 Nov 29;342(6162):1100-4. doi: 10.1126/science.1242379. Epub 2013 Oct 17
PMID 24136357
 
Chromosome abnormalities in malignant lymphoma in patients from Kurashiki: histological and immunophenotypic correlations.
Konishi H, Sakurai M, Nakao H, Maseki N, Kaneko Y, Yagiri Y, Notohara K, Frizzera G
Cancer Res. 1990 May 1;50(9):2698-703
PMID 2328495
 
Sphingosine-1-phosphate receptor 1 reporter mice reveal receptor activation sites in vivo.
Kono M, Tucker AE, Tran J, Bergner JB, Turner EM, Proia RL
J Clin Invest. 2014 May;124(5):2076-86. doi: 10.1172/JCI71194. Epub 2014 Mar 25
PMID 24667638
 
Human-specific transcriptional networks in the brain
Konopka G, Friedrich T, Davis-Turak J, Winden K, Oldham MC, Gao F, Chen L, Wang GZ, Luo R, Preuss TM, Geschwind DH
Neuron. 2012 Aug 23;75(4):601-17. doi: 10.1016/j.neuron.2012.05.034
PMID 22920253
 
t(2;18) and t(18;22) variant chromosomal translocations and bcl-2 gene rearrangements in human malignant lymphomas.
Larsen CJ, Mecucci C, Leroux D
Nouv Rev Fr Hematol. 1990;32(6):401-3.
PMID 2129304
 
Variant t(2;18) translocation in a follicular lymphoma.
Leroux D, Monteil M, Sotto JJ, Jacob MC, Le Marc'Hadour F, Bonnefoi H, Jalbert P
Br J Haematol. 1990 Jun;75(2):290-2.
PMID 2242141
 
Small noncleaved, non-Burkitt's (Burkit-Like) lymphoma: cytogenetics predict outcome and reflect clinical presentation.
Macpherson N, Lesack D, Klasa R, Horsman D, Connors JM, Barnett M, Gascoyne RD.
J Clin Oncol. 1999 May;17(5):1558-67
PMID 10334544
 
Human-specific loss of regulatory DNA and the evolution of human-specific traits
McLean Cory Y , Philip L. Reno, Alex A. Pollen, Abraham I. Bassan, Terence D. Capellini, Catherine Guenther, Vahan B. Indjeian, Xinhong Lim, Douglas B. Menke, Bruce T. Schaar, Aaron M. Wenger, Gill Bejerano, and David M. Kingsley
Nature. 2011 Mar 10; 471(7337): 216-219.
PMID 3071156
 
Neighbourhood continuity is not required for correct testis gene expression in Drosophila
Meadows LA, Chan YS, Roote J, Russell S
PLoS Biol. 2010 Nov 30;8(11):e1000552. doi: 10.1371/journal.pbio.1000552
PMID 21151342
 
Initial sequence of the chimpanzee genome and comparison with the human genome.
Mikkelsen TS, Hillier LW, Eichler EE, Zody MC, Jaffe DB, et al.
Nature. 2005 Sep 1;437(7055):69-87
PMID 16136131
 
Mitelman Database of Chromosome Aberration in Cancer
Mitelman F, Johansson B, Mertens F
https://cgap.nci.nih.gov/
 
Selective regulation of IP3-receptor-mediated Ca2+ signaling and apoptosis by the BH4 domain of Bcl-2 versus Bcl-Xl.
Monaco G, Decrock E, Akl H, Ponsaerts R, Vervliet T, Luyten T, De Maeyer M, Missiaen L, Distelhorst CW, De Smedt H, Parys JB, Leybaert L, Bultynck G
Cell Death Differ. 2012 Feb;19(2):295-309. doi: 10.1038/cdd.2011.97. Epub 2011 Aug 5.
PMID 21818117
 
Temporal specification and bilaterality of human neocortical topographic gene expression
Pletikos M, Sousa AM, Sedmak G, Meyer KA, Zhu Y, Cheng F, Li M, Kawasawa YI, Sestan N.
Neuron. 2014 Jan 22;81(2):321-32. doi: 10.1016/j.neuron.2013.11.018. Epub 2013 Dec 26
PMID 24373884
 
Characterization and potential functional significance of human-chimpanzee large INDEL variation
Polavarapu Nalini, Arora Gaurav, Mittal Vinay K and McDonald John F
Mobile DNA20112:13
PMID https://doi.org/10.1186/1759-8753-2-13
 
FVT-1, a novel human transcription unit affected by variant translocation t(2;18)(p11;q21) of follicular lymphoma.
Rimokh R, Gadoux M, Berthéas MF, Berger F, Garoscio M, Deléage G, Germain D, Magaud JP.
Blood. 1993 Jan 1;81(1):136-42.
PMID 8417785
 
The BH4 domain of Bcl-2 inhibits ER calcium release and apoptosis by binding the regulatory and coupling domain of the IP3 receptor.
Rong YP, Bultynck G, Aromolaran AS, Zhong F, Parys JB, De Smedt H, Mignery GA, Roderick HL, Bootman MD, Distelhorst CW.
Proc Natl Acad Sci U S A. 2009 Aug 25;106(34):14397-402. doi: 10.1073/pnas.0907555106. Epub 2009 Aug 17
PMID 19706527
 
Clinicopathological features of lymphoma/leukemia patients carrying both BCL2 and MYC translocations.
Tomita N, Tokunaka M, Nakamura N, Takeuchi K, Koike J, Motomura S, Miyamoto K, Kikuchi A, Hyo R, Yakushijin Y, Masaki Y, Fujii S, Hayashi T,Ishigatsubo Y, Miura I.
Haematologica. 2009 Jul;94(7):935-43. doi: 10.3324/haematol.2008.005355. Epub 2009 Jun 16.
PMID 19535347
 
Genome Browser Gateway
UNIVERSITY OF CALIFORNIA
http://genome.ucsc.edu/index.html
 
A chimpanzee genome project is a biomedical imperative
Varki A
Genome Res. 2000 Aug;10(8):1065-70
PMID 10958623
 
Rearrangement of the 5' cluster region of the BCL2 gene in lymphoid neoplasm: a summary of nine cases.
Yabumoto K, Akasaka T, Muramatsu M, Kadowaki N, Hayashi T, Ohno H, Fukuhara S, Okuma M.
Leukemia. 1996 Jun;10(6):970-7.
PMID 8667654
 
Heterogeneous breakpoints on the immunoglobulin genes are involved in fusion with the 5' region of BCL2 in B-cell tumors.
Yonetani N, Ueda C, Akasaka T, Nishikori M, Uchiyama T, Ohno H.
Jpn J Cancer Res. 2001 Sep;92(9):933-40
PMID 11572760
 
Transposable elements in mammals promote regulatory variation and diversification of genes with specialized functions
van de Lagemaat LN, Landry JR, Mager DL, Medstrand P
Trends Genet. 2003 Oct;19(10):530-6
PMID 14550626
 

Citation

This paper should be referenced as such :
t(2;18)(p11;q21)IGK/BCL2 and IGK/KDSR;
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0218p11q21IGKBCL2KDSRID1461.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(2;18)(p11;q21) IGK/BCL2
 t(2;18)(p11;q21) IGK/KDSR

External links

Mitelman databaset(2;18)(p11;q21) [Case List]    t(2;18)(p11;q21) [Association List] Mitelman database (CGAP - NCBI)
Mitelman databaset(2;18)(p11;q21) [Case List]    t(2;18)(p11;q21) [Association List] Mitelman database (CGAP - NCBI)
arrayMapMorph ( 9690/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapMorph ( 9680/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapMorph ( 9687/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapMorph ( 9823/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(2;18)(p11;q21)IGK/BCL2 and IGK/KDSR
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 15:09:11 CET 2017


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.