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 AlteredExpression disease BEFREE DISH analyses also revealed high-level amplification of MDM2 in all DDLPS. 31145104 2020
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE Partially immunodeficient mice were bilaterally engrafted with UZLX-STS3 (n = 24) and UZLX-STS5 (n = 24) human DDLPS tissue harboring MDM2 amplifications. 31201607 2020
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE The use of the combination of MDM2, CDK4, p16, and FISH to detect MDM2 amplification is a reliable basis for the diagnosis of DDLPS with meningothelial-like whorls. 31782160 2020
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 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 Our results suggest that the co-overexpression of MDM2 and CDK4, along with multiple genetic factors, increases the tendency for high-grade sarcoma with a DDLPS-like morphology in transformed human BMSCs by accelerating their growth and migration and blocking their adipogenic potential. 31160689 2019
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE Overexpression of DDIT3, along with MDM2 and CDK4, may contribute to the pathogenesis of dedifferentiated liposarcoma by interfering with adipocytic differentiation. 30420727 2019
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE Eighty percent (24/30) and 92% (22/24) of ALTs/WDLs and DDLs were positive for MDM2 immunohistochemistry. 30520819 2019
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 GeneticVariation disease BEFREE These include gene fusions in vascular neoplasms (FOSB, CAMTA1 and TFE3), round cell sarcomas (BCOR, DUX4 and WT1), and fibroblastic/myofibroblastic tumors (STAT6, ALK and Pan-TRK); amplifications in well-differentiated and dedifferentiated liposarcomas (MDM2 and CDK4); and deletions in several aggressive neoplasms (SMARCB1 and SMARCA4). 30382607 2019
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE Overall, these findings indicate that MDM2 plays a crucial role in DDLPS by enabling cross-talk between tumor cells and the surrounding microenvironment and that targeting vesicular MDM2 could represent a therapeutic option for treating DDLPS. 31387924 2019
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE Notably, the splicing events of certain STS key genes were significantly associated with STS 2-year overall survival in the present study, including exon skip (ES) events in MDM2 and EWSR1, alternate terminator events in CDKN2A and HMGA2 for dedifferentiated liposarcoma, ES in MDM2 and alternate promoter events in CDKN2A for leiomyosarcoma, and ES in EWSR1 for undifferentiated pleomorphic sarcoma. 31443718 2019
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE These include MDM2 and CDK4 amplification in well-differentiated and dedifferentiated liposarcomas as well as FUS-DDIT3 rearrangements in myxoid liposarcoma. 30793229 2019
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE MDM2 amplification in well- and dedifferentiated liposarcoma, FUS/EWSR1-DDIT3 gene fusions in myxoid liposarcoma, RB1 loss in spindle cell/pleomorphic lipoma). 30857767 2019
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 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 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 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 amplification was confirmed in osteocytes and/or osteoblastic cells in all but one ossified DDLPS cases (27 of 28) using fluorescence in-situ hybridisation, although the morphological impression of ossification appeared to be mainly metaplastic (27 of 36) or high-grade osteosarcoma-like (six of 36). 29076540 2018
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE As biopsy of a muscular mass was compatible with a poorly differentiated sarcoma with MDM2 oncogene amplification, two diagnoses were discussed: a dedifferentiated liposarcoma with muscle and heart metastases or a primary cardiac sarcoma, mainly a cardiac intimal sarcoma, with muscular metastases, which was finally confirmed by array-comparative genomic hybridization (aCGH) in a sarcoma reference center. 28887581 2018
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 AlteredExpression disease BEFREE WDLS/DDLSs showed focal/diffuse expression of MDM2 (91% of cases) and p16 (97%). 29432785 2018
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE Application of MDM2 Fluorescence In Situ Hybridization and Immunohistochemistry in Distinguishing Dedifferentiated Liposarcoma From Other High-grade Sarcomas. 27028243 2018
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 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 AlteredExpression disease BEFREE LMS with MDM2 overexpression showed a worse prognosis than DDLS (P=0.0408). 28552535 2017
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
0.400 Biomarker disease BEFREE The dedifferentiated liposarcoma had complex karyotypes and MDM2 amplification by FISH, and of these, 5 tumors with myxoid changes also had complex signals for DDIT3. 26808135 2017