CDK4, cyclin dependent kinase 4, 1019

N. diseases: 433; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1266129
Disease: Atypical Lipoma
Atypical Lipoma
0.100 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: C1266129
Disease: Atypical Lipoma
Atypical Lipoma
0.100 Biomarker disease BEFREE These tumors behave in a benign manner and MDM2/CDK4 negativity may be useful in excluding ALT. 29629919 2018
CUI: C1266129
Disease: Atypical Lipoma
Atypical Lipoma
0.100 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: C1266129
Disease: Atypical Lipoma
Atypical Lipoma
0.100 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: C1266129
Disease: Atypical Lipoma
Atypical Lipoma
0.100 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: C1266129
Disease: Atypical Lipoma
Atypical Lipoma
0.100 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: C1266129
Disease: Atypical Lipoma
Atypical Lipoma
0.100 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: C1266129
Disease: Atypical Lipoma
Atypical Lipoma
0.100 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: C1266129
Disease: Atypical Lipoma
Atypical Lipoma
0.100 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: C1266129
Disease: Atypical Lipoma
Atypical Lipoma
0.100 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: C1266129
Disease: Atypical Lipoma
Atypical Lipoma
0.100 Biomarker disease BEFREE CDK4 amplification predicts recurrence of well-differentiated liposarcoma of the abdomen. 25121597 2014
CUI: C1266129
Disease: Atypical Lipoma
Atypical Lipoma
0.100 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: C1266129
Disease: Atypical Lipoma
Atypical Lipoma
0.100 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: C1266129
Disease: Atypical Lipoma
Atypical Lipoma
0.100 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: C1266129
Disease: Atypical Lipoma
Atypical Lipoma
0.100 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: C1266129
Disease: Atypical Lipoma
Atypical Lipoma
0.100 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