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: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 Biomarker disease BEFREE Morphologic evaluation and FISH for MDM2 amplification should allow its distinction from liposarcoma and other mimics. 30826321 2019
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 GeneticVariation disease BEFREE Sensitive assays to detect genomic alterations in cfDNA of synovial sarcomas (t(X;18)), myxoid liposarcomas (t(12;16) and TERT C228T promoter mutation) and well-differentiated/de-differentiated liposarcomas (MDM2 amplifications) were established. ctDNA was quantified in nine liposarcoma patients during the course of their treatment. 30779112 2019
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 Biomarker disease BEFREE In order to clarify the relationship between esophageal liposarcoma and giant fibrovascular polyp, we retrieved esophageal cases coded as 'giant fibrovascular polyp,' 'lipoma' and 'liposarcoma' from our archives and re-examined their clinicopathologic features and MDM2 amplification status. 28984298 2018
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 Biomarker disease BEFREE The observed clinical activity (partial response and prolonged progression-free survival) provides an impetus for further study of HDM2 inhibitors in liposarcoma. 28240971 2017
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 Biomarker disease BEFREE Thus a pre-operative biopsy was performed along with MDM2 gene amplification to rule out a liposarcoma preceding surgical excision. 28088193 2017
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 Biomarker disease BEFREE We identified patient-specific genetic alterations in candidate driving genes: RASA2 and NF1 (prostate cancer), TP53 and CDKN2C (olfactory neuroblastoma), FAT1, NOTCH1, and SMAD4 (head and neck cancer), KRAS (urachal carcinoma), EML4-ALK (lung cancer), and MDM2 and PTEN (liposarcoma). 26925973 2016
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 Biomarker disease BEFREE Included are seven cell lines with wild-type p53 (four mesothelioma, one breast cancer, one chondrosarcoma, and one leiomyosarcoma), two liposarcoma cell lines harboring MDM2 amplification and wild-type p53, and one mesothelioma cell line harboring a p53 point mutation. 27129163 2016
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 Biomarker disease BEFREE As MDM2 amplification is not specific for the diagnosis of liposarcoma, we investigated its occurrence in 43 cases of endometrial stromal tumors: 14 uterine LG-ESS, 11 metastatic or recurrent uterine LG-ESS, 8 undifferentiated uterine sarcomas, 5 endometrial stromal nodules, and 4 high-grade ESS with YHWAE rearrangement. 26444253 2015
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 GeneticVariation disease BEFREE To the best of our knowledge, this is the first report of MDM2 FISH amplification in a liposarcoma performed on an aspirate smear. 25132684 2015
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 GeneticVariation disease BEFREE However, these profiles did not segregate by histology (lung adenocarcinoma-appendiceal cancer (KRAS G12D and GNAS R201C), and lung adenocarcinoma-liposarcoma (CDK4 and MDM2 amplification pairs)). 26418953 2015
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 Biomarker disease BEFREE Using fluorescent in situ hybridization (FISH), we sought to characterize various patterns of MDM2 amplification among the morphologic spectrum of liposarcoma. 24515760 2014
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 Biomarker disease BEFREE MDM2 inhibition activates the P53 pathway and decreases cell proliferation in MDM2-amplified liposarcoma. 23084521 2012
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 AlteredExpression disease BEFREE Well-differentiated LS is characterized by overexpression of MDM2, which blocks the tumor suppressor function of p53. 21932353 2012
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 Biomarker disease BEFREE Also, MDM2 is known to be amplified in several types of mesenchymal tumors, including liposarcoma. 21666577 2011
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 GeneticVariation disease BEFREE Moreover, we observed a strong association of malignancy with TP53 mutation, or MDM2 amplification and the presence of a G allele in SNP309, especially in lipoma versus liposarcoma. 21159888 2011
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 Biomarker disease BEFREE MDM2 amplification is one of the earliest events in liposarcoma development, and these results suggest that c-Jun was amplified at a similar time in the evolution of the tumour. 19449367 2009
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 AlteredExpression disease BEFREE Prognostic factors and expression of MDM2 in patients with primary extremity liposarcoma. 18438568 2008
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 AlteredExpression disease BEFREE Chromosome-12 copy number alterations and MDM2, CDK4 and TP53 expression in soft tissue liposarcoma. 17214366 2007
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 GeneticVariation disease BEFREE Thus, alterations of mdm2 and p53 genes belong to the most frequently reported alterations in these two subtypes of liposarcoma. 12924448 2003
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 AlteredExpression disease BEFREE Lipoma was characterized by a lack of p53 mutation, p53 LOH and p53 protein expression, as well as by mdm2 amplification and mdm2 protein expression. p53 mutation and p53 LOH were found neither in the well-differentiated nor in the dedifferentiated parts of the liposarcoma. 11518050 2001
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 Biomarker disease BEFREE The findings in this study agree with the molecular data and they show the physical association of mdm2 and p53 in fresh liposarcoma surgical specimens. 10565683 1999
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 Biomarker disease BEFREE As well as confirming the synergistic effect of MDM2 and CDK4, these results are consistent with the concept that amplicon(s) excluding MDM2 may contribute to transformation and support a role of CDK4 in opposing p53 function, particularly in NR WD liposarcoma. 9713346 1998
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 AlteredExpression disease BEFREE Distinct mdm2/p53 expression patterns in liposarcoma subgroups: implications for different pathogenetic mechanisms. 9071998 1997
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma
0.100 Biomarker disease BEFREE Such a finding contrasts with the higher rates of p53/MDM2 abnormalities reported in other types of sarcomas such as liposarcoma. 8644845 1996