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 GeneticVariation disease BEFREE The SYT-SSX fusion protein down-regulates the cell proliferation regulator COM1 in t(x;18) synovial sarcoma. 17101797 2007
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood 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: C0279982
Disease: Childhood Synovial Sarcoma
Childhood 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: C0279982
Disease: Childhood Synovial Sarcoma
Childhood 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: C0279982
Disease: Childhood Synovial Sarcoma
Childhood 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: C0279982
Disease: Childhood Synovial Sarcoma
Childhood 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: C0279982
Disease: Childhood Synovial Sarcoma
Childhood 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: C0279982
Disease: Childhood Synovial Sarcoma
Childhood 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: C0279982
Disease: Childhood Synovial Sarcoma
Childhood 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: C0279982
Disease: Childhood Synovial Sarcoma
Childhood 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: C0279982
Disease: Childhood Synovial Sarcoma
Childhood 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: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma 		0.100 Biomarker disease BEFREE The gold standard for SS diagnosis is characterization of the t(X;18) chromosomal translocation. 29490565 2018