2017
DOI: 10.1186/s41241-017-0025-9
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Loss of expression of the Neural Cell Adhesion Molecule 1 (NCAM1) in atypical teratoid/rhabdoid tumors: a new diagnostic marker?

Abstract: Background: Atypical teratoid/rhabdoid tumors (AT/RT) are aggressive embryonal tumors of the central nervous system. They are largely characterized by inactivating mutations of the SMARCB1 tumor suppressor gene. AT/RT patients have a very poor prognosis and no standard therapeutic protocol has been defined yet. Recently, multimodal therapy with multiple drug combinations has slightly improved the overall survival, however drug toxicity remains high. In this scenario, a better understanding of the pathophysiolo… Show more

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Cited by 4 publications
(2 citation statements)
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“…Meanwhile, we found that a significant copy number deletion and reduced mRNA expression of NCAM1 in most patients with the Mix_Sub subtype and the reduction in NCAM1 expression appears to be the result of the cis-regulatory effect of genomic copy number changes on transcriptome expression (Figure 7F). We also identified a mechanism of interaction between NCAM1 and FGFR1, as depicted in Figure 7H (30,(32)(33)(34)(35)(36)(37). Overall, our analysis suggests that the low expression of NCAM1 in Mix_Sub subtype patients is likely caused by the large number of copy number deletions, which restrict its binding to FGFR1, resulting in the inability of various downstream signaling pathways to be activated, which in turn led to tumor deterioration and ultimately to poorer survival outcomes for Mix_Sub subtype patients.…”
Section: Mix_sub Subtype Exhibits Distinct Cellcell Communicationsmentioning
confidence: 77%
“…Meanwhile, we found that a significant copy number deletion and reduced mRNA expression of NCAM1 in most patients with the Mix_Sub subtype and the reduction in NCAM1 expression appears to be the result of the cis-regulatory effect of genomic copy number changes on transcriptome expression (Figure 7F). We also identified a mechanism of interaction between NCAM1 and FGFR1, as depicted in Figure 7H (30,(32)(33)(34)(35)(36)(37). Overall, our analysis suggests that the low expression of NCAM1 in Mix_Sub subtype patients is likely caused by the large number of copy number deletions, which restrict its binding to FGFR1, resulting in the inability of various downstream signaling pathways to be activated, which in turn led to tumor deterioration and ultimately to poorer survival outcomes for Mix_Sub subtype patients.…”
Section: Mix_sub Subtype Exhibits Distinct Cellcell Communicationsmentioning
confidence: 77%
“…PPP1R9A gene overexpression has been detected in prostate cancer [ 29 ] and provides growth advantage to malignant cells. However, the downregulation of NCAM1 genes has been identified in several cancers, suggesting its disrupted repressor function [ 30 ]. It is thus assumed that H. pylori cagA gene integration may be contributory to overall prostate tumorigenesis.…”
Section: Single Species Over Quantity—can Microbiome Directly Stimulate Oncogenesis?mentioning
confidence: 99%