CD38, CD38 molecule, 952

N. diseases: 473; N. variants: 7
Disease: Childhood Synovial Sarcoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		0.100 Biomarker disease BEFREE Translocation t(X;18) in orofacial synovial sarcoma. 2842027 1988
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		0.100 Biomarker disease BEFREE A comparison of our results with previously published studies suggests that in addition to t(X;18), translocations of chromosome 18 with other chromosomes may represent a consistent feature of chromosomal changes in synovial sarcoma. 2541892 1989
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		0.100 GeneticVariation disease BEFREE Translocations t(X;7) and t(7;14) in a synovial sarcoma. 1648957 1991
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		0.100 GeneticVariation disease BEFREE A synovial sarcoma with a complex t(X;18;5;4) and a break in the ornithine aminotransferase (OAT)L1 cluster on Xp11.2. 7519051 1994
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		0.100 GeneticVariation disease BEFREE In summary, translocation t(X;18) is a chromosomal aberration specific for synovial sarcoma. 8579122 1996
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		0.100 Biomarker disease BEFREE In a previous study we reported the isolation of the human synovial sarcoma-associated t(X;18) breakpoint. 8760306 1996
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		0.100 GeneticVariation disease BEFREE Analysis of t(X;18) translocation in synovial sarcoma had previously led to the definition of the SSX2 gene, the fusion partner on chromosome X. 9378559 1997
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		0.100 GeneticVariation disease BEFREE We report the development of a reverse-transcriptase polymerase chain reaction assay that detects (in paraffin-embedded, formalin-fixed tissue) the SYT-SSXchimeric RNA transcript resulting from the t(X;18) of synovial sarcoma. 9556426 1998
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		0.100 Biomarker disease BEFREE Two cases of synovial sarcoma arising in the larynx and in the hypopharynx and in which cytogenetic analysis detected a diagnostic t(X;18) chromosome aberration are reported here. 9865642 1998
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		0.100 Biomarker disease BEFREE To formally test the specificity of this translocation for the diagnosis of synovial sarcoma, RNA extracted from formalin-fixed, paraffin-embedded tissue from a variety of soft tissue and spindle cell tumors was evaluated for the presence of t(X;18) by reverse transcriptase-polymerase chain reaction. 11144931 2000
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		0.100 Biomarker disease BEFREE To formally test the specificity of this translocation for the diagnosis of synovial sarcoma, RNA extracted from formalin-fixed, paraffin-embedded tissue from a variety of soft tissue and spindle cell tumors was evaluated for the presence of t(X;18) by reverse transcriptase-polymerase chain reaction. 11106084 2000
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		0.100 Biomarker disease BEFREE Because this is the primary genetic alteration in these tumors, we sought to identify the impact of molecular heterogeneity of the t(X;18) on cell proliferation, apoptosis, and epithelial differentiation in synovial sarcoma. 10718206 2000
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		0.100 Biomarker disease BEFREE Both, dual-color FISH using probes specific for OATLI1/OATL2 genes and RT-PCR analysis excluded the presence of t(X;18), typical for synovial sarcoma. 11150604 2000
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		0.100 Biomarker disease BEFREE The presence of an SYT-SSX gene fusion resulting from the t(X;18) characteristic of synovial sarcoma was demonstrated by reverse transcriptase polymerase chain reaction in three of three tumors in which adequate RNA could be obtained from paraffin blocks. 10935649 2000
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		0.100 Biomarker disease BEFREE Nine tumors originally diagnosed as SS were t(X;18) (SYT-SSX)-negative. 11172303 2001
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		0.100 GeneticVariation disease BEFREE Synovial sarcoma (SS) is cytogenetically characterized by the translocation t(X;18)(p11.2-q11.2) generating a fusion between the SYT gene on chromosome 18 and one member of the SSX family gene (SSX1; SSX2; SSX4) on chromosome X. 11308259 2001
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		0.100 GeneticVariation disease BEFREE As a result of the synovial sarcoma associated t(X;18) translocation, the human SYT gene on chromosome 18 is fused to either the SSX1 or the SSX2 gene on the X chromosome. 11423977 2001
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		0.100 GeneticVariation disease BEFREE The presence of the t(X;18) with SSX2 involvement definitively characterizes this tumour as a variant of synovial sarcoma. 11207827 2001
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		0.100 GeneticVariation disease BEFREE Molecular detection of the synovial sarcoma translocation t(X;18) by real-time polymerase chain reaction in paraffin-embedded material. 11854597 2002
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood 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: C0279982
Disease: Childhood Synovial Sarcoma
Childhood 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: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		0.100 Biomarker disease BEFREE The translocation t(X;18) is currently regarded as a specific molecular marker of synovial sarcoma (SS). 12004001 2002
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood 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
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		0.100 AlteredExpression disease BEFREE The SYT-SSX1 fusion type of synovial sarcoma is associated with increased expression of cyclin A and D1. A link between t(X;18)(p11.2; q11.2) and the cell cycle machinery. 12173050 2002
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood 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