|
Multiple Myeloma
|
0.100 |
Biomarker
|
disease |
BEFREE |
14q32 (IgH) translocations are highly prevalent in both sPCL and pPCL (82-87%); in pPCL IgH translocations almost exclusively involve 11q13 (CCND1), supporting a central etiological role, while in sPCL multiple partner oncogenes are involved, including 11q13, 4p16 (FGFR3/MMSET) and 16q23 (MAF), recapitulating MM.
|
18216867 |
2008 |
|
Multiple Myeloma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Nearly 40% of MM tumors have immunoglobulin H (IgH) translocations involving four recurrent chromosomal loci (oncogenes): 11q13 (cyclin D1), 6p21 (cyclin D3), 4p16 (MMSET and FGFR3), and 16q23 (c-maf).
|
12846810 |
2003 |
|
Multiple Myeloma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Collectively, these data suggest that, by acting directly as a modifier of chromatin as well as through binding of other chromatin-modifying enzymes, MMSET influences gene expression and potentially acts as a pathogenic agent in multiple myeloma.
|
18156491 |
2008 |
|
Multiple Myeloma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Although a poor prognosis is linked with elevated MMSET expression, an extended follow-up period will be required to evaluate the significance of elevated TACC3 and p21 expression in this subgroup of MM.
|
15198734 |
2004 |
|
Multiple Myeloma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The t(11;14)/CCND1-IGH, t(4;14)/NSD2(MMSET)-IGH, and t(14;16)/IGH-MAF gene rearrangements detected by fluorescence in situ hybridization (FISH) are used for risk stratification in patients with multiple myeloma (MM).
|
31218784 |
2019 |
|
Multiple Myeloma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The t(4;14)(p16.3;q32) chromosomal translocation occurs in approximately 20% of multiple myelomas (MM) and leads to the apparent deregulation of two genes located on 4p16.3: the fibroblast growth factor receptor 3 (FGFR3) and the putative transcription factor WHSC1/MMSET.
|
11429702 |
2001 |
|
Multiple Myeloma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The t(4;14)(p16.3;q32) in multiple myeloma (MM) leads to an apparent deregulation of the FGFR3 and WHSC1/MMSET genes.
|
11529856 |
2001 |
|
Multiple Myeloma
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Quantitative reverse-transcription-polymerase chain reaction (RT-PCR) for proposed target genes on a panel of myeloma cell lines and purified plasma cells showed that only transcripts originating from the WHSC1/MMSET/NSD2 gene are uniformly dysregulated in all t(4;14)POS patients.
|
15677557 |
2005 |
|
Multiple Myeloma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Although studies have shown the involvement of MMSET/Wolf-Hirschhorn syndrome candidate 1 in development, its mode of action in the pathogenesis of MM is largely unknown.
|
20974671 |
2011 |
|
Multiple Myeloma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A subset of multiple myeloma harboring the t(4;14)(p16;q32) translocation lacks FGFR3 expression but maintains an IGH/MMSET fusion transcript.
|
12433679 |
2003 |
|
Multiple Myeloma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The t(4;14) translocation occurs in 25% of multiple myeloma (MM) and results in both the ectopic expression of fibroblast growth factor receptor 3 (FGFR3) from der4 and immunoglobulin heavy chain-MMSET hybrid messenger RNA transcripts from der14.
|
10648414 |
2000 |
|
Multiple Myeloma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The chromosomal translocation t(4;14) deregulates MMSET (WHSC1/NSD2) expression and is a poor prognostic factor in multiple myeloma (MM).
|
24923560 |
2014 |
|
Multiple Myeloma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
FGFR3/MMSET activation) or implicated (e.g. chromosome 13 deletion), the mechanisms of MM development remain enigmatic.
|
12846813 |
2003 |
|
Multiple Myeloma
|
0.100 |
AlteredExpression
|
disease |
LHGDN |
Collectively, these data suggest that, by acting directly as a modifier of chromatin as well as through binding of other chromatin-modifying enzymes, MMSET influences gene expression and potentially acts as a pathogenic agent in multiple myeloma.
|
18156491 |
2008 |
|
Multiple Myeloma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Histone lysine methyltransferase NSD2 was frequently overexpressed in multiple types of cancer such as multiple myeloma, stomach and colon cancer, and the overexpression of it usually associated with aggressiveness tumor type.
|
28338204 |
2017 |
|
Multiple Myeloma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although all MM tumors and cell lines with a t(4;14) translocation have dysregulated MMSET, about 25% do not express FGFR3.
|
20393505 |
2010 |
|
Multiple Myeloma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although several key molecular events in disease initiation or progression have been confirmed (eg, FGFR3/MMSET activation) or implicated (eg, chromosome 13 deletion), the mechanisms of MM development remain enigmatic.
|
12731663 |
2003 |
|
Multiple Myeloma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In t(4;14) MM, the MM SET domain (MMSET) protein is universally overexpressed and has been suggested to have an important tumorigenic role.
|
26196464 |
2015 |
|
Multiple Myeloma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Western blot and flow cytometry analysis indicated SLAMF7 was over-expressed in t(4;14) MM cell lines and down-regulated by MMSET shRNAs.
|
23900284 |
2013 |
|
Multiple Myeloma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Overexpression of the multiple myeloma set domain (MMSET) Wolf-Hirschhorn syndrome candidate 1 gene, which contains an orphan box H/ACA class small nucleolar RNA, ACA11, in an intron, is associated with several cancer types, including multiple myeloma (MM).
|
28148777 |
2017 |
|
Multiple Myeloma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Dramatic overexpression of NSD2 in t(4;14) multiple myeloma (MM) and an activating mutation of NSD2 discovered in acute lymphoblastic leukemia are significantly associated with altered gene activation, transcription, and DNA damage repair.
|
31248990 |
2019 |
|
Multiple Myeloma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma.
|
9618163 |
1998 |
|
Multiple Myeloma
|
0.100 |
AlteredExpression
|
disease |
LHGDN |
A subset of multiple myeloma harboring the t(4;14)(p16;q32) translocation lacks FGFR3 expression but maintains an IGH/MMSET fusion transcript.
|
12433679 |
2003 |
|
Multiple Myeloma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Transcription repression activity is associated with the type I isoform of the MMSET gene involved in t(4;14) in multiple myeloma.
|
16197452 |
2005 |
|
Multiple Myeloma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The MM SET domain (MMSET) protein is universally overexpressed and has been suggested to have an important tumorigenic role.
|
28881672 |
2017 |