CD38, CD38 molecule, 952

N. diseases: 473; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 Biomarker disease BEFREE The gold standard for SS diagnosis is characterization of the t(X;18) chromosomal translocation. 29490565 2018
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 GeneticVariation disease BEFREE Synovial sarcomas are deadly soft tissue malignancies associated with t(X;18) balanced chromosomal translocations. 28851813 2017
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 GeneticVariation disease BEFREE Oncogenesis in synovial sarcoma is driven by the chromosomal translocation t(X,18; p11,q11), which generates an in-frame fusion of the SWI/SNF subunit SS18 to the C-terminal repression domains of SSX1 or SSX2. 25614489 2015
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 Biomarker disease BEFREE Our results emphasize t(X;18) as a single initiating event in SS and as the main oncogenic driver. 26415226 2015
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 GeneticVariation disease BEFREE Ultimately, an immunohistochemical stain for TLE-1 demonstrated diffusely strong nuclear positivity and molecular studies showed the presence of the t(X; 18) SYT/SSX1 translocation confirming the diagnosis of SS. 24436244 2014
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 GeneticVariation disease BEFREE Unusual primary intracranial dural-based poorly differentiated synovial sarcoma with t(X; 18)(p11; q11). 22537253 2013
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 GeneticVariation disease BEFREE Synovial sarcoma (SS) is a malignant soft tissue tumor harboring chromosomal translocation t(X; 18)(p11.2; q11.2), which produces SS-specific fusion gene, SYT-SSX. 23313505 2013
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 GeneticVariation disease BEFREE Whereas the importance of the t(X;18) translocation in SS oncogenesis is well established, the genetic basis of SS metastasis is still poorly understood. 23319690 2013
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 Biomarker disease BEFREE Our objectives in this study were (1) to test whether the differentially expressed gene, Transducin-Like Enhancer of split (TLE1) belonging to the groucho/TLE family, is also distinct on the protein level; (2) to evaluate this biomarker in a series of well-characterised synovial sarcomas on standard, full-sized tissue sections and (3) to correlate the expression of TLE1 with t(X;18) and other established biomarkers. 20189377 2010
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 Biomarker disease BEFREE Synovial sarcoma (SS) is characterized by the t(X; 18) (p11.2; q11.2) translocation resulting in the SYT-SSX fusion transcript, detectable by reverse transcriptase polymerase chain reaction (RT-PCR). 19267417 2009
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 Biomarker disease BEFREE Cytogenetic analysis was performed of six monophasic synovial sarcomas (four primary, two recurrent tumors) and one recurrent poorly differentiated synovial sarcoma with complex tumor-specific t(X;18). 19215793 2009
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 Biomarker disease BEFREE Karyotype on fresh tissue represents a genome-wide screen of gross chromosomal alterations, whereas fluorescence in situ hybridization and polymerase chain reaction detect specific defects that are characteristic of a given tumor type such as t(11;22) EWSR1-FLI1 in Ewing family tumors, t(X;18) SS18-SSX1 in synovial sarcoma, t(2;13) PAX3-FOXO1A in alveolar rhabdomyosarcoma, and MYCN gene amplification in neuroblastoma. 19214114 2009
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 GeneticVariation disease BEFREE Synovial sarcoma is a tumor of the soft tissues with a unique chromosomal translocation t(X;18)(p 11.2;q11.2) that can be detected by polymerase chain reaction in tissue homogenates. 18325475 2008
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 GeneticVariation disease BEFREE The SYT-SSX fusion protein down-regulates the cell proliferation regulator COM1 in t(x;18) synovial sarcoma. 17101797 2007
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 GeneticVariation disease BEFREE Recent findings on the molecular background of synovial sarcoma with the description of the specific translocation t(X;18) led to the incorporation of this particular genetic aberration into the definition of this tumor type. 17509396 2007
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 Biomarker disease BEFREE To determine whether the t(X;18) present in the original tumor is maintained in its passages, a dual-color break-apart FISH assay for SYT gene disruption was performed in two tissue microarrays (TMA) comprising eight molecularly confirmed primary SSs and their xenografts, which were followed for several generations. 17175375 2007
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 GeneticVariation disease BEFREE Cytogenetic analysis confirmed the t(X;18) in all six synovial sarcomas and the t(11;22) in three Ewing sarcomas. 16557276 2006
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 GeneticVariation disease BEFREE We report here the molecular cytogenetic analyses of a synovial sarcoma of the larynx harboring the diagnostic t(X;18), as well as trisomies 2 and 8. 15325093 2004
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 GeneticVariation disease BEFREE Characteristic sequence motifs located at the genomic breakpoints of the translocation t(X;18) in synovial sarcomas. 12687023 2003
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 GeneticVariation disease BEFREE The t(X;18) translocation is a specific marker of synovial sarcomas (SS). 14669292 2003
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 GeneticVariation disease BEFREE Detection of the t(X:18) translocation using RT-PCR, Southern blot, and DNA sequencing definitively confirmed the diagnosis of SS. 12552937 2003
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 Biomarker disease BEFREE The t(X;18) (p11.2;q11.2) has been demonstrated to be highly characteristic of synovial sarcomas, and the resulting SYT-SSX fusion transcripts have been shown to be useful diagnostic markers. 11826189 2002
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 GeneticVariation disease BEFREE This case illustrates the importance of proper procurement of frozen tissue for molecular genetic analysis for the identification of the t(X;18), characteristic of synovial sarcoma. 11845884 2002
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 Biomarker disease BEFREE In conclusion, in keeping with literature data, our results show that reactivity for epithelial membrane antigen, cytokeratin AE1/AE3, and E-cadherin, in combination with CD34 negativity, are the most useful and sensitive markers for diagnosing monophasic fibrous and poorly differentiated t(X;18)-positive SS. 12409719 2002
CUI: C0039101
Disease: synovial sarcoma
synovial sarcoma
0.100 Biomarker disease BEFREE Submandibular synovial sarcoma with t(X;18) and synovial sarcoma of the toe with additional cytogenetic abnormalities: presentation of two cases and review of the literature. 12034530 2002