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 |
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 |
GeneticVariation
|
disease |
BEFREE |
In particular, MMSET/NSD2 selective inhibition is being pursued for therapeutic interventions against multiple myeloma (MM) cases, especially in multiple myeloma t(4;14)(p16.3;q32) translocation that is associated with a significantly worse prognosis than other MM subgroups.
|
30471851 |
2019 |
Multiple Myeloma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our experimental results further demonstrate that Co-fuse can identify known driver fusion genes (e.g., IGH-MYC, IGH-WHSC1) in MM, when compared to AML samples, indicating the potential of Co-fuse to aid the discovery of yet unknown driver fusion genes through cohort comparisons.
|
29882166 |
2018 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
The MM SET domain (MMSET) protein is universally overexpressed and has been suggested to have an important tumorigenic role.
|
28881672 |
2017 |
Multiple Myeloma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The spectrum of KRAS, NRAS, and BRAF codon mutations varied across subgroups with NRAS mutations at Q61 codon being common in hyperdiploid (HRD) and t(11;14) myeloma while being rare in MMSET and MAF.
|
28427158 |
2017 |
Multiple Myeloma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
By using genetically matched MM cell lines that had either high (pathological) or low (physiological) expression of MMSET, we found that MMSET-high cells had increased damage at baseline.
|
27109101 |
2016 |
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 |
Our data indicate that IGFBP7 expression is a marker for a specific methylation pattern in myeloma, linked to translocation t(4;14) associated MMSET expression, showing clinical features of adverse prognosis with absence of myeloma bone disease.
|
25887188 |
2015 |
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 |
Biomarker
|
disease |
BEFREE |
Together, our work elucidates previously unrecognized interplay between MMSET and EZH2 in myeloma oncogenesis and identifies domains to be considered when designing inhibitors of MMSET function.
|
25188243 |
2014 |
Multiple Myeloma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In studies of patients with multiple myeloma (MM), gene expression profiling (GEP) of myeloma cells demonstrates substantially higher expression of MMSET, FGFR3, CCND3, CCND1, MAF, and MAFB--the partner genes of 14q32 translocations--than GEP of plasma cells from healthy individuals.
|
24638926 |
2014 |
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 |
Biomarker
|
disease |
BEFREE |
NSD2 is recruited through its PHD domain to oncogenic gene loci to drive multiple myeloma.
|
23980095 |
2013 |
Multiple Myeloma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We found that MMSET enhances the proliferation of MM cells by stimulating the expression of c-MYC at the post-transcriptional level.
|
22972034 |
2013 |
Multiple Myeloma
|
0.100 |
Biomarker
|
disease |
BEFREE |
As a part of these translational efforts, novel drugs that inhibit oncogenic proteins overexpressed in defined molecular subgroups of the disease, such as FGFR3 and MMSET in t(4;14) MM, are currently being developed.
|
23233602 |
2012 |
Multiple Myeloma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We found that ACA11, an orphan box H/ACA class small nucleolar RNA (snoRNA) encoded within an intron of WHSC1, was highly expressed in t(4;14)-positive MM and other cancers.
|
22751105 |
2012 |
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 |
From a clinical standpoint, it is critical to identify MM patients carrying the t(4;14) translocation, which is present in 15% of myelomas and is associated with dysregulation of WHSC1/MMSET and often FGFR3.
|
22160056 |
2011 |
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 |
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 |
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 |
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 |