Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE After targeted RNA-sequencing, dual FISH fusion and array-CGH analysis, 7 of 13 tumors exhibited NTRK rearrangements (6 TPM3-NTRK1 and 1 EML4-NTRK3) and 3 a COL1A1-PDGFB fusion; in the other 3 neoplasms, all of which were positive with S100 (2 diffuse, 1 focal), we identified no rearrangement. 30877273 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Rare examples of vulvar DFSP have been reported, including myxoid, myoid, and fibrosarcomatous variants, but detection of the characteristic t(17;22)(q22;q13) that produces COL1A1-PDGFB gene fusion has not been evaluated in a large series of primary vulvar tumors. 29140881 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE PDGFB-overexpressing and NF1-silenced murine tumors closely cluster with human proneural and mesenchymal subtypes, as well as PDGFRA-amplified and NF1-deleted/mutant human tumors, respectively, at both the RNA and protein expression levels. 28836293 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Furthermore, Cav3.2 inhibition decreased expression of oncogenes (PDGFA, PDGFB, and TGFB1) and increased expression of tumor suppressor genes (TNFRSF14 and HSD17B14). 28512247 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE All tumors expressed CD34 and the COL1A1-PDGFB fusion transcripts. 28420485 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE The PDGFB copy number showed a moderate positive correlation with the number of mitotic figures and tumor size. 23347652 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Furthermore, the elevated HIF-2α in TAMs stimulated transcription of a set of proangiogenic genes such as VEGFA and PDGFB, which might in turn contribute to the angiogenic process within tumors. 24194900 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Molecular analysis of one of the cases showed a characteristic COL1A1-PDGFB rearrangement in both the main tumor and also in the cells lining the pseudocystic portion of the tumor, confirming the diagnosis and indicating that the lining represented a component of the proliferation. 22335595 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Median tumor latency was shorter in mice injected with PDGFB and Bcl-2 compared to those injected with PDGFB alone. 21171016 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE We also show that infecting brainstem glial progenitors with PDGFB-green fluorescent protein (GFP)-expressing retrovirus induced tumors that closely resembled human malignant gliomas. 20468047 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Genetic aberrations involving the platelet-derived growth factor-beta (PDGFB) gene and the collagen type 1 alpha1 (COL1A1) gene have been implicated in the pathogenesis of dermatofibrosarcoma protuberans (DFSP), a slow-growing and locally infiltrative dermal tumour. 19663837 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE PDGFB can mediate the development of mouse spinal tumors that are histologically and pathologically indistinguishable from primary intramedullary spinal tumors of humans and may provide opportunities for both novel insights into the pathogenesis of these tumors and the development of new therapeutics. 18922925 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Although rare, the existence of cases of DFSP negative for the COL1A1-PDGFB fusion has to be taken in consideration when performing molecular diagnosis for a tumor suspected to be a DFSP. 18253748 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Tumor cells are reactive for CD34 and characterized by a t(17;22) translocation or a supernumerary ring chromosome that results in the fusion of exon 2 of PDGFB to various exons of the COL1A1 gene. 17950782 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Analysis of the data from the 8 tumor samples showed that amplifications of TP73 (1p36.33), SNRPN (15q12), and PDGFB (22q13.1) occurred exclusively in tumors with a wild type BRAF. 17227125 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE In the 20 paired samples, the PDGFB gene amplification in the tumor was significantly higher than that in the normal tissue. 17431412 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE To confirm the diagnosis, molecular studies were performed on fixed tumor and revealed the presence of the fusion product of the COL1A1-PDGFB genes characteristic of DFSP. 12660034 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE The COL1A1-PDGFB fusion transcript was detected from the tumour specimen. 12786837 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Because COL1A1 exon 29 has been involved previously in gene fusion with PDGFB exon 2 in several cases of adult or infantile DP presenting either t(17;22) or ring chromosomes, our results support the concept that DP, GCF, and BT are morphologic variants of a same entity, rather than distinct tumors. 12034531 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE These results strongly suggest that the COL1A1-PDGFB chimeric gene expression associated with DP, induces tumours formation through production of mature PDGFB, in an autocrine or paracrine way. 11420709 2001
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE This is the first case of DFSP showing such a fusion point, which is intriguingly identical to that found in a GCF case, indicating that the COL1A1/PDGFB fusion point position does not seem to affect tumor morphology. 10963386 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE As the chimeric gene, COL1A1-PDGFB, has been proposed to play an important role in the histogenesis of DFSP, we conducted a reverse transcription-polymerase chain reaction assay to ascertain whether the COL1A1-PDGFB fusion transcripts can be detected in both conventional DFSP and fibrosarcomatous components of DFSP with fibrosarcomatous areas (DFSP-FS), using a simple method of microdissection on sections of archival formalin-fixed, paraffin-embedded tumor specimens from six DFSP-FS cases. 11272901 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Although PDGFB has been implicated in transforming processes via autocrine and paracrine pathways, by the activation of the cognate receptor, no direct evidence of its involvement in neoplastic transformation of human tumours has been so far provided. 9771975 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE However, unlike oncogenes such as PDGFB or ras, Wnt-1 and -2 failed to induce detectable transformed foci following transfection, and stable NIH3T3 transfectants lacked tumor forming capacity. 9652750 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE These results clearly support a role of c-sis protein in the proliferation of these human neuroglial tumors and show that inducible protein expression can be blocked by means of synthetic oligonucleotides complementary to a coding exon. 8177392 1994