| Experiment ID | EXP00227 |
| Reference | Title: Integrative analysis of miRNA and mRNA expression profiles in pheochromocytomaand paraganglioma identifies genotype-specific markers and potentially regulated pathways. Author: de Cubas AA, Leandro-García LJ, Schiavi F, Mancikova V, Comino-Méndez I,Inglada-Pérez L, Perez-Martinez M, Ibarz N, Ximénez-Embún P, López-Jiménez E,Maliszewska A, Letón R, Gómez Graña A, Bernal C, Alvarez-Escolá C,Rodríguez-Antona C, Opocher G, Muñoz J, Megias D, Cascón A, Robledo M. Journal: Endocr Relat Cancer. 2013 Jun 24;20(4):477-93. doi: 10.1530/ERC-12-0183. Print2013 Aug. Abstract: Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare neuroendocrineneoplasias of neural crest origin that can be part of several inheritedsyndromes. Although their mRNA profiles are known to depend on geneticbackground, a number of questions related to tumor biology and clinical behavior remain unanswered. As microRNAs (miRNAs) are key players in the modulation ofgene expression, their comprehensive analysis could resolve some of these issues.Through characterization of miRNA profiles in 69 frozen tumors with germlinemutations in the genes SDHD, SDHB, VHL, RET, NF1, TMEM127, and MAX, we identifiedmiRNA signatures specific to, as well as common among, the genetic groups ofPCCs/PGLs. miRNA expression profiles were validated in an independent series of30 composed of VHL-, SDHB-, SDHD-, and RET-related formalin-fixedparaffin-embedded PCC/PGL samples using quantitative real-time PCR. Upregulation of miR-210 in VHL- and SDHB-related PCCs/PGLs was verified, while miR-137 andmiR-382 were confirmed as generally upregulated in PCCs/PGLs (except inMAX-related tumors). Also, we confirmed overexpression of miR-133b asVHL-specific miRNAs, miR-488 and miR-885-5p as RET-specific miRNAs, and miR-183and miR-96 as SDHB-specific miRNAs. To determine the potential roles miRNAs play in PCC/PGL pathogenesis, we performed bioinformatic integration and pathwayanalysis using matched mRNA profiling data that indicated a common enrichment of pathways associated with neuronal and neuroendocrine-like differentiation. Wedemonstrated that miR-183 and/or miR-96 impede NGF-induced differentiation inPC12 cells. Finally, global proteomic analysis in SDHB and MAX tumors allowed us to determine that miRNA regulation occurs primarily through mRNA degradation inPCCs/PGLs, which partially confirmed our miRNA-mRNA integration results. PMID: 23660872 |
| Expressiion Profile | Description: MIRnome Profiling of Hereditary Pheochromocytoma and Paraganglioma Reveals Specific Signatures According to Primary Mutation: Possible Implications in the Differentiation Status of Tumor Cells Organism: Homo sapiens GEO ID: GSE29742 Platform: GPL8227 Number of samples: 54 |
| Design and Sample | Cancer Type: neuroendocrine neoplasia Cancer SubType: N/D Cell Line: N/D Experimental Design: cancer vs normal Case Sample: pheochromocytoma Control Sample: normal adrenal medulla Num of Case: 37 Num of Control: 6 Quantification Software: Limma Num of miRNAs: 723 |
| Identification | Num of Up: 9 Num of Down: 42 |