Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.600 GeneticVariation 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
0.600 Biomarker disease BEFREE Combination therapy with CDK4 and RTK inhibitors may be an effective therapeutic option for WDLPS/DDLPS patients with RTK gene amplification. 28099935 2017
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.600 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
0.600 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
0.600 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
0.600 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
0.600 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
0.600 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
0.600 GeneticVariation disease BEFREE Histologically, both CDK4 (P=0.007) and JUN (P=0.005) amplifications were associated with dedifferentiated liposarcoma, whereas amplification of the proximal parts of HMGA2 (5'-untranslated region (UTR) and exons 1-3) was associated with atypical lipomatous tumor/well-differentiated liposarcoma (P=0.01). 26336885 2015
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.600 GeneticVariation disease BEFREE Recently, a number of tumor-specific chromosome translocations and associated fusion genes have been identified in adipocytic tumors and atypical lipomatous tumors/well-differentiated liposarcomas (ALT/WDL), which have a supernumerary ring and/or giant chromosome marker with amplified sequences of the MDM2 and CDK4 genes. 24965044 2014
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.600 Biomarker disease BEFREE CDK4 amplification predicts recurrence of well-differentiated liposarcoma of the abdomen. 25121597 2014
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.600 AlteredExpression disease BEFREE The aim of this study was to assess the prognostic significance of level of CDK4 amplification in MDM2-amplified WDLS/DDLS. 23852861 2014
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.600 Biomarker disease CTD_human Phase II trial of the CDK4 inhibitor PD0332991 in patients with advanced CDK4-amplified well-differentiated or dedifferentiated liposarcoma. 23569312 2013
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.600 Therapeutic disease CTD_human Phase II trial of the CDK4 inhibitor PD0332991 in patients with advanced CDK4-amplified well-differentiated or dedifferentiated liposarcoma. 23569312 2013
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.600 AlteredExpression disease BEFREE In addition to classical morphology of atypical lipomatous tumor with evidence of lipoblasts and atypical adipocytes, immunohistochemistry with nuclear murine double-minute type 2 protein and cyclin-dependent kinase-4 expression as well as fluorescence in situ hybridization analysis showing an amplification of murine double-minute type 2 protein and cyclin-dependent kinase-4 were helpful to establish the diagnosis. 21358383 2011
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.600 Therapeutic disease CTD_human Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy. 20601955 2010
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.600 Biomarker disease CTD_human Subtype-specific genomic alterations define new targets for soft-tissue sarcoma therapy. 20601955 2010
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.600 Biomarker disease BEFREE An amplification of the MDM2 and CDK4 genes respectively in the atypical lipomatous tumor/well-differentiated liposarcoma areas was detected by fluorescence in situ hybridization (FISH) analysis, and translocations of the CHOP and FUS genes were detected by FISH analysis in the myxoid/round cell liposarcoma areas. 18551309 2008
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.600 AlteredExpression disease BEFREE Studies of cell cycle controlling proteins that interact with CDK4 and MDM2 revealed an abnormally strong expression of cyclins D1 and E. The selective high-level amplification of the 5'-part of HMGA2, including the DNA-binding domains, suggests that this gene is a major target of amplifications in WDLS. 18160213 2008
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.600 Biomarker disease BEFREE Atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDL) and dedifferentiated liposarcoma (DDL) are reported to have murine double-minute type 2 (MDM2) and cyclin-dependent kinase 4 (CDK4) amplification as a characteristic genetic alteration. 16938516 2006
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.600 Biomarker disease BEFREE Evaluation of MDM2 and CDK4 amplification by real-time PCR on paraffin wax-embedded material: a potential tool for the diagnosis of atypical lipomatous tumours/well-differentiated liposarcomas. 14694526 2004
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.600 AlteredExpression disease BEFREE The expression of MDM2/CDK4 gene product in the differential diagnosis of well differentiated liposarcoma and large deep-seated lipoma. 10755400 2000
CUI: C1370889
Disease: Liposarcoma, well differentiated
Liposarcoma, well differentiated
0.600 ChromosomalRearrangement disease ORPHANET