MDM2, MDM2 proto-oncogene, 4193

N. diseases: 702; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE MDM2 antagonists synergize with PI3K/mTOR inhibition in well-differentiated/dedifferentiated liposarcomas. 28903316 2017
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE Atypical lipomatous tumor/well-differentiated liposarcoma (ALT-WDLPS) and dedifferentiated liposarcoma (DDLPS) are characterized cytogenetically by a 12q13-15 amplification involving the mouse double minute 2 (MDM2) oncogene. 25132285 2015
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE The MDM2 and CDK4 genes are the main targets of chromosome 12 amplification in well-differentiated and dedifferentiated liposarcomas. 21910158 2011
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE Atypical lipomatous tumor/well-differentiated liposarcomas and dedifferentiated liposarcomas are characterized by the amplification of MDM2 and CDK4 genes. 17895748 2007
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 GeneticVariation disease BEFREE MDM2 and CDK4 gene amplification levels, along with JUN amplification and copy alterations at 3q29, can be utilized for predicting outcome in patients with DDLS. 29153098 2017
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE In addition, MDM2 gene amplification, a diagnostic signature of well-differentiated/dedifferentiated liposarcoma (WDL/DL), was evaluated to address the recent observation that this gene is amplified within PL-like areas in DL. 22472959 2012
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE Such similarities in the clinical characteristics, morphology, genomic profile, and follow-up of peripheral UPS with MDM2 amplification and peripheral conventional DDLPS strongly suggest that peripheral UPS with MDM2 amplification are in fact DDLPS. 24525499 2014
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE Meta-analyses showed that the test of detecting MDM2 amplification by fluorescence in situ hybridization was accurate in differentiating atypical lipomatous tumor/well-differentiated liposarcoma/dedifferentiated liposarcoma from benign tumors (N = 971; sensitivity = 95%, 95% confidence interval [CI] 89-98; specificity = 100%, CI 89-100) or from other STS (N = 347; sensitivity = 99%, CI 72-100; specificity = 90%, CI 78-95); that the test of detecting SS18-SSX fusion by reverse transcription polymerase chain reaction (PCR) was accurate in differentiating synovial sarcoma from other STS (N = 532; sensitivity = 93%, CI 85-96; specificity = 99%, CI 96-100). 29709714 2018
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE MDM2 amplification is a diagnostic hallmark of ALT/WDLPS/DDLPS. 30887579 2019
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE MDM2 amplification was noted in 7/8 (88%) atypical lipomatous tumors/well-differentiated and 3/3 (100%) dedifferentiated liposarcomas, respectively, but not in four pleomorphic liposarcomas. 25446247 2014
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 AlteredExpression disease BEFREE Here we present <i>in silico</i>, <i>in vitro</i>, and mouse xenograft studies that suggest that specifically targeting HDAC2 reduces MDM2 expression and has anti-tumor affects in DDLPS. 31620242 2019
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 AlteredExpression disease BEFREE We recently evaluated a mesenteric mass initially diagnosed as dedifferentiated liposarcoma, largely due to the neoplasm's myxoid morphology and MDM2 expression by immunohistochemistry, from a 46-yr-old woman with a history of uterine low-grade endometrial stromal sarcoma (LG-ESS) with a JAZF1 rearrangement. 26444253 2015
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE Of the well-differentiated and dedifferentiated liposarcomas, 100% showed amplification of MDM2. 18500263 2008
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE The MDM2 and HMGA2 genes are consistently amplified in well-differentiated/dedifferentiated liposarcomas (WDLPS/DDLPS) whereas CDK4 is frequently but not always amplified in these tumors. 19737942 2009
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE Finding of MDM2 and CDK4 iperexpression by immunohistochemistry confirmed the diagnosis of dedifferentiated liposarcoma. 16489442 2006
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 AlteredExpression disease BEFREE By contrast, mdm2 overexpression emerges as the most frequent abnormality in dedifferentiated liposarcoma (57 and 78 per cent of cases in well-differentiated and high-grade areas, respectively). 9071997 1997
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE In well-differentiated and dedifferentiated liposarcoma their clinical promise is associated with their ability to downregulate the MDM2 protein. 29789718 2018
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE FISH analysis on paraffin wax-embedded sections showed amplifications of MDM2 and CDK4 in seven of seven inflammatory MFHs and in seven of seven dedifferentiated liposarcomas. 15221942 2004
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE DDL share similar genetic abnormalities to WDL, with high-level amplifications of chromosome 12q14-15, including the MDM2 and CDK4 cell cycle oncogenes, and DDL harbor additional genetic changes, particularly coamplifications of 6q23 and 1p32. 26645460 2016
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE Ultrasound-guided fine-needle aspiration of a posterior neck dedifferentiated liposarcoma with MDM2 fluorescence in situ hybridization performed on a Pap-stained smear. 25132684 2015
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 AlteredExpression disease BEFREE Here we investigate whether 'Fédération Nationale des Centres de Lutte Contre le Cancer' (FNCLCC) grade and MDM2 gene amplification levels have prognostic value in dedifferentiated liposarcoma in terms of local recurrence and disease-specific survival. 25059573 2015
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 AlteredExpression disease BEFREE MDM2 and/or CDK4 protein overexpression and gene amplification are beneficial ancillary studies that can help establish the diagnosis of primary breast ALT/WDL and DDL, and effectively rule out the diagnoses of malignant phyllodes tumor and metaplastic breast carcinoma. 29372852 2018
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE Despite complex genetics, aneuploid tumors like dedifferentiated liposarcoma have specific and reproducible chromosomal changes such as amplification of HDM2 and CDK4 that represent potential targets for systemic therapy. 19664496 2009
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE In contrast, MDM2 staining and high-level MDM2 amplification were positive in all the DDLPS tested (28/28 and 20/20). 29309298 2018
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE MDM2 gene amplification normally present and used to aid in the diagnosis of retroperitoneal dedifferentiated liposarcoma was absent in this case. 24595525 2014