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: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 Biomarker disease BEFREE MDM2 amplification is a diagnostic hallmark of ALT/WDLPS/DDLPS. 30887579 2019
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 Biomarker disease BEFREE We examined whether MDM2 and/or CDK4 cause WDLPS/DDLPS, using two types of transformed human bone marrow stem cells (BMSCs), 2H and 5H, with five oncogenic hits (overexpression of hTERT, TP53 degradation, RB inactivation, c-MYC stabilization, and overexpression of HRAS<sup>v12</sup>). 31160689 2019
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 GeneticVariation disease BEFREE Differentiating atypical lipomatous tumors from lipomas with magnetic resonance imaging: a comparison with MDM2 gene amplification status. 30943944 2019
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 Biomarker disease BEFREE Patients with an MDM2-negative lipoma or MDM2-positive WDLPS and a pretreatment T1-weighted MRI scan who were referred to Erasmus MC between 2009 and 2018 were included. 31747074 2019
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 Biomarker disease BEFREE MDM2 RNA In Situ Hybridization for the Diagnosis of Atypical Lipomatous Tumor: A Study Evaluating DNA, RNA, and Protein Expression. 30520819 2019
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 Biomarker disease BEFREE This tumor warrants separation from ordinary lipoma with fat necrosis, fat-rich spindle cell lipoma and the conventional form of atypical lipomatous tumor that features MDM2 gene amplification. 30001242 2018
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 Biomarker disease BEFREE Commonly used immunomarkers, MDM2 and p16, have proven useful in diagnosing WDLS and dedifferentiated liposarcoma (DDLS), while HMB45 and Melan-A are melanocyte-related markers characteristically expressed in AML. 29432785 2018
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 Biomarker disease BEFREE To the best of our knowledge, this is the first example of MDM2-amplified ALT/WDL in this age group. 28705709 2018
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 Biomarker disease BEFREE All the ALT/WDL/DDLs showed MDM2 amplification (100%). 29368794 2018
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 AlteredExpression disease BEFREE Atypical lipomatous tumour or well-differentiated liposarcoma shows retention of pRb but overexpression and amplification of MDM2. 29358476 2018
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 Biomarker disease BEFREE MDM2 and CDK4 were never coexpressed and FISH for MDM2 amplification was consistently negative, highlighting critical biological differences from atypical lipomatous tumor/dedifferentiated liposarcoma. 27879515 2017
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 Biomarker disease BEFREE Differential diagnosis of atypical lipomatous tumor/well-differentiated liposarcoma and dedifferentiated liposarcoma: utility of p16 in combination with MDM2 and CDK4 immunohistochemistry. 27597521 2017
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 Biomarker disease BEFREE Well-differentiated liposarcoma (WDLPS) and dedifferentiated liposarcoma (DDLPS) are closely related tumors commonly characterized by MDM2/CDK4 gene amplification, and lack clinically effective treatment options when inoperable. 28099935 2017
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 Biomarker disease BEFREE Molecular chromosome analysis was performed on fluorescence in situ hybridization in tissue sections from the tissue blocks in all cases for the purpose of this study; a ratio greater than 2 was considered to represent murine double-minute 2 (MDM2) amplification consistent with a diagnosis of ALT/WDL. 27322173 2016
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 Biomarker disease BEFREE The aim of this study was to investigate foci resembling well-differentiated liposarcoma in MPT for MDM2 and CDK4 amplification. 26542423 2016
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 Biomarker disease BEFREE Lipoblastoma (LB) is a rare benign adipocytic tumor of childhood occasionally showing histological similarities to myxoid liposarcoma (ML) or well-differentiated liposarcoma (WDL). p16 immunohistochemistry has proved to be useful in distinguishing various types of liposarcomas, in particular WDL from lipoma, with higher sensitivity and specificity than MDM2 and CDK4 immunohistochemistry. 26514741 2016
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 GeneticVariation disease BEFREE TP53 mutations emerge with HDM2 inhibitor SAR405838 treatment in de-differentiated liposarcoma. 27576846 2016
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 Biomarker disease BEFREE Identifying MDM2 amplification is a useful ancillary test, as the histologic mimics of atypical lipomatous tumors/well-differentiated liposarcomas have consistently shown a lack of MDM2 amplification. 27684983 2016
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 Biomarker disease BEFREE Despite indistinguishable morphology all cases of malignant PT with WDLS-like liposarcomatous differentiation were negative for MDM2 and CDK4 IHC and FISH, supporting different underlying pathogenesis. 26843318 2016
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 Biomarker disease BEFREE Immunohistochemistry for murine double minute 2 (MDM2) has been used to support a diagnosis of WDLS; however, MDM2 labeling has not been specifically evaluated in fat-predominant AMLs. 27369456 2016
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 Biomarker disease BEFREE Four cases of atypical lipomatous tumor/well-differentiated liposarcoma (4/26, 15%) with a low MDM2 and CDK4 amplification level (MDM2-CDK4/CEP12 ratio ranging between 2 and 2.5) detected by FISH showed no amplification by MLPA, although gain of MDM2 and CDK4 (ratios ranging between 1.6 and 1.9) was seen with MLPA. 25679065 2015
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 Biomarker disease BEFREE The MDM2-p53 pathway plays a prominent role in well-differentiated liposarcoma (LPS) pathogenesis. 25888633 2015
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 GeneticVariation disease BEFREE We present 2 cases of liposarcoma arising in the vulva: a myxoid liposarcoma harboring DDIT3 and FUS rearrangements and a well differentiated liposarcoma/atypical lipomatous tumor harboring MDM2 amplification detected by fluorescence in situ hybridization. 25851712 2015
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 Biomarker disease BEFREE HMGA2, CDK4, and JUN genes have been described as frequently coamplified with MDM2 in atypical lipomatous tumor, well-differentiated liposarcoma, and dedifferentiated liposarcoma. 26336885 2015
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.400 AlteredExpression disease BEFREE FISH was performed in two cases of well-differentiated liposarcoma and high levels of amplification of MDM2 at 12q13-15 were observed; the CHOP translocation at 12q13.1-q13.2 was absent in both cases. 25475695 2015