Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 GeneticVariation disease BEFREE Examination of the CRTC1/3-MAML2 fusion gene showed no relation between SRCC of primary unknown with metastasis to the cervical lymph node and MEC of the parotid gland. 30954307 2020
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 GeneticVariation disease BEFREE Salivary gland MEC are most frequently associated with CRTC1-MAML2 translocations. 30380176 2019
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 GeneticVariation disease BEFREE Bronchial Mucoepidermoid Carcinoma With the Classic MAML2 Gene Rearrangement in a 2-year-old Boy. 28492094 2019
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 GeneticVariation disease BEFREE Articles that assessed the association between the CRTC1-MAML2 translocation and survival of MEC patients were selected for the systematic review. 31661572 2019
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 Biomarker disease BEFREE Rearrangement of mastermind like transcriptional coactivator 2 (MAML2) (11q21) gene was shown to be present in tumor cells by fluorescence in situ hybridization, supporting the diagnosis of a low-grade Warthin-like mucoepidermoid carcinoma. 31177170 2019
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 AlteredExpression disease BEFREE Gefitinib represses JAK-STAT signaling activated by CRTC1-MAML2 fusion in mucoepidermoid carcinoma cells. 30605061 2019
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 Biomarker disease BEFREE The aims of this study were to determine the prognostic significance of MEC grading systems and MAML2 rearrangement status. 31021855 2019
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 Biomarker disease BEFREE CRTC1-MAML2 fusion is often detected in low- or intermediate-grade salivary mucoepidermoid carcinoma (MEC), and it is associated with a favorable clinical course. 31351495 2019
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 GeneticVariation disease BEFREE We present 2 variants of MEC for which MAML2 studies were crucial in establishing a diagnosis: a previously undescribed ciliated variant, and the recently described Warthin-like variant. 28877061 2018
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 Biomarker disease BEFREE CRTC1/3-MAML2 fusion gene is a characteristic molecular feature of MEC of the salivary gland. 30138216 2018
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 Biomarker disease BEFREE Tumor categories as described by the World Health Organization reflect, in part, a true genetic heterogeneity (e.g., translocations involving CRTC1 and CRTC3-MAML2 genes in mucoepidermoid carcinoma and MYB-NFIB fusion in adenoid cystic carcinoma). 28930752 2018
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 GeneticVariation disease BEFREE The CRTC1-MAML2 fusion gene resulting from a t(11;19)(q21;p13) translocation, is now known to be a feature of both low-grade and high-grade mucoepidermoid carcinomas associated with improved survival. 29076877 2018
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 Biomarker disease BEFREE We found that LINC00473 transcription was significantly induced in human CRTC1-MAML2-positive MEC cell lines and primary MEC tumors, and was tightly correlated with the CRTC1-MAML2 RNA level. 29353885 2018
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 Biomarker disease BEFREE Analysis of MAML2 rearrangement can be used as a supportive evidence to distinguish central MEC from GOC. 29131467 2018
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 Biomarker disease BEFREE The present study reports a case of MEC harboring a mastermind-like transcriptional coactivator 2 (<i>MAML2</i>) gene translocation in the sublingual gland. 28927048 2017
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 GeneticVariation disease BEFREE Through these integrated genomic analyses, MECT1-MAML2 translocation and somatic TP53 and POU6F2 mutations appear to be the main drivers of MEC. 27340278 2017
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 Biomarker disease BEFREE Using MAML2 fluorescence in situ hybridization (FISH), a total of 49 MEC cases were separated into MAML2 fusion-positive (32 cases) and MAML2 fusion-negative groups (17 cases). 27769871 2017
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 Biomarker disease BEFREE An oncogenic CRTC1- or CRTC3-MAML2 gene fusion has been identified in a number of MECs. 28438292 2017
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 AlteredExpression disease BEFREE However, reverse-transcription polymerase chain reaction revealed the CRTC3-MAML2 fusion gene product diagnostic of MEC. 28412212 2017
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 Biomarker disease BEFREE Fluorescence in situ hybridization for the MECT1/MAML2 fusion gene frequently associated with MEC was performed and was negative. 28006088 2017
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 GeneticVariation disease BEFREE This is the first report of CRTC1-MAML2 fusion gene detection in a clear cell variant of MEC. 26297211 2017
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 Biomarker disease BEFREE Hence, gene rearrangements such as CRTC1-MAML2 in mucoepidermoid carcinomas have shown excellent specificity, and more than that, it has been strongly correlated with low-grade tumors and consequently with an increased survival rate and better prognosis of patients affected by neoplasms carrying this translocation. 25990369 2016
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 AlteredExpression disease BEFREE Although the incidence of this fusion in mucoepidermoid carcinoma varies, it is generally accepted that more than 50% of this entity manifest the CRTC1-MAML2. 26316332 2016
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 Biomarker disease BEFREE In contrast to adults, MECT1/MAML2 fusion transcripts occur with a frequency of 100% in our pediatric MEC series. 26221861 2016
CUI: C0206694
Disease: Mucoepidermoid Carcinoma
Mucoepidermoid Carcinoma
0.100 Biomarker disease BEFREE Amphiregulin (AREG), an epidermal growth factor receptor (EGFR) ligand, has been shown to be a downstream target of CRTC1-MAML2 fusion, and to play a role in tumor growth and survival in CRTC1-MAML2-positive MEC cell lines. 27393417 2016