Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 GeneticVariation disease BEFREE Treatment of consistent BRAF/HRAS gene mutation and MYC amplification radiation-induced abdominal wall angiosarcoma with low-dose apatinib: a case report. 31805975 2019
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 Biomarker disease BEFREE Ancillary techniques are, in general, of little help for separating the borderland cases but, in some instances, immunohistochemical study (IHC) for Ki67 and IHC or fluorescence in situ hybridization analysis for MYC may help in the diagnosis of angiosarcoma. 30251277 2019
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 GeneticVariation disease BEFREE Recurrent MYC amplifications (96%) and KDR variants (8%) were detected in post-radiation angiosarcomas, in agreement with the literature. 31243333 2019
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 AlteredExpression disease BEFREE It has been shown convincingly, that the majority of radiation-associated angiosarcomas are characterised by amplification and subsequent overexpression of MYC in contrast to benign and atypical vascular lesions. 28983701 2018
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 Biomarker disease BEFREE MYC amplification was not detected in any of the 5 cases examined, aiding in ruling out the possibility of angiosarcoma. 29104110 2018
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 AlteredExpression disease BEFREE IHC detected MYC overexpression in 8 of 15 informative cases (7 secondary AS and 1 idiopathic AS). 29135507 2018
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 Biomarker disease BEFREE We report MYC amplification in two cases of angiosarcoma arising in massive chronic lymphedema of morbid obesity. 27686553 2017
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 Biomarker disease BEFREE Although the mechanisms of cellular injury and repair resulting from ionizing radiation are well described, the genomics of radiation-induced tumours are still relatively poorly understood, with some exceptions, such as RET rearrangement in thyroid carcinomas following iodine-131 exposure and MYC amplification in cutaneous angiosarcoma following chest wall irradiation for breast cancer. 27960236 2017
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 GeneticVariation disease BEFREE Most radiation-induced AS show MYC gene amplifications, with a subset of cases harboring KDR, PTPRB, and PLCG1 mutations. 26735859 2016
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 AlteredExpression disease BEFREE Genetic characterization of several soft tissue tumour types that occur in the skin has resulted in the identification of diagnostically useful markers: ALK gene rearrangement with corresponding ALK protein expression by immunohistochemistry in epithelioid fibrous histiocytoma; the WWTR1-CAMTA1 fusion gene with CAMTA1 protein expression in epithelioid haemangioendothelioma; MYC amplification and overexpression in radiation-associated angiosarcoma; and EWSR1 gene rearrangement in cutaneous myoepithelial tumours. 26763770 2016
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 Biomarker disease BEFREE Survival analysis of the SAS patients demonstrates that those with MYC amplification had a significantly worse overall survival compared to cases without MYC amplification (P = 0.035). 25893585 2015
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 GeneticVariation disease BEFREE The genetic bases of these tumors have been partially revealed in recent studies reporting genetic alterations such as amplifications of MYC (primarily in radiation-associated angiosarcomas), inactivating mutations in PTPRB and R707Q hotspot mutations of PLCG1. 26440310 2015
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 AlteredExpression disease BEFREE MYC protein expression and gene amplification have been detected in secondary angiosarcoma (AS), and a subset of primary AS. 26223194 2015
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 Biomarker disease BEFREE Recently, possible involvement of MYC and KDR has been documented in a subset of angiosarcomas of soft tissue. 25231439 2015
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 GeneticVariation disease BEFREE Specifically, this article will focus on the following aspects: (1) pathological and molecular features of epithelioid hemangioendothelioma, including the more common WWTR1-CAMTA1 fusion, as well as the recently described YAP1-TFE3 fusion, identified in a morphological variant of epithelioid hemangioendothelioma; (2) discuss the heterogeneity of angiosarcoma clinical, morphological and genetic spectrum, with particular emphasis of MYC and FLT4 gene amplification in radiation-induced angiosarcoma; and (3) provide a practical guide in the differential diagnosis of epithelioid vascular tumors using molecular testing. 24384851 2014
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 AlteredExpression disease BEFREE By IHC analysis, MYC overexpression was present in 9/38 (24%) AS-C (2-3+: 6 cases, 16%; 1+: 3 cases, 8%). 24091875 2014
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 Biomarker disease BEFREE We also found MYC amplification in 1 primary skin AS and 1 primary cardiac AS. 24457083 2014
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 Biomarker disease BEFREE Key roles for MYC, KIT and RET signaling in secondary angiosarcomas. 24983371 2014
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 AlteredExpression disease BEFREE MYC amplification and expression of the corresponding protein has been identified in AS in comparison with AVL. 24113311 2013
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 Biomarker disease BEFREE We found significantly higher numbers of MYC amplifications in RIS than in sporadic sarcomas (P < 0.0001), especially in angiosarcomas, undifferentiated pleomorphic sarcomas, and leiomyosarcomas. 23012233 2013
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 Biomarker disease BEFREE Of note, however, no c-myc gene abnormalities have been demonstrated in cases of primary angiosarcomas or postradiation atypical vascular lesions. 23221487 2013
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 Biomarker disease BEFREE In conclusion, the presence of MYC amplification represents an important additional diagnostic tool in the distinction of postradiation cutaneous angiosarcomas from atypical vascular lesions after radiotherapy. 21909081 2012
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 AlteredExpression disease BEFREE Amplification of MYC and nuclear expression of MYC is present in secondary angiosarcoma but not AVL. 22121953 2012
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 Biomarker disease BEFREE Thus, MYC amplification may play a crucial role in the angiogenic phenotype of AS through upregulation of the miR-17-92 cluster, which subsequently downregulates THBS1, a potent endogenous inhibitor of angiogenesis. 22383169 2012
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.400 Biomarker disease BEFREE Our findings reinforce the distinct pathogenesis of AS subtypes, with MYC amplification being an early, but necessary event in secondary AS. 20949568 2011