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Gene expression profiling of children affected by Alveolar Rhabdomyosarcoma (ARMS)
GEO
Data Resource:  GEO
Point of Contact:  
Gerolamo Lanfranchi,  
Project

About This Dataset
We analyzed the expression signatures of 10 tumor biopsies from children affected by alveolar rhabdomyosarcoma (ARMS) to identify genes correlating to biological features of this tumor. Five of these patients were positive for the PAX3-FKHR fusion gene and five were negative. We used a cDNA platform containing a large majority of probes derived for muscle tissues. The comparison of transcription profiles of tumor samples with normal fetal skeletal muscle identified 171 differentially expressed genes common to all ARMS patients. The functional analysis of altered genes led to the identification of a group of transcripts (BCOR, DDX5, LGALS1, BIN1) that may be relevant for the tumorigenic processes leading a normal muscle cell to become a malignant rhabdomyoblast. The muscle-specific platform was able to distinguish PAX3-FKHR positive and negative ARMS through the expression pattern of a limited number of genes (RAC1, CFL1, CCND1) that might be biologically relevant for the different clinical behavior and aggressiveness of the two ARMS subtypes. Expression levels for selected candidate genes were validated by quantitative real-time reverse-transcription PCR.
Core Data Elements
Number of Cases
14
Case Sex
Female (8); Male (6)
Case Age At Diagnosis
0 to 4 years (5); 5 to 9 years (7); 10 to 14 years (2)
Case Race
Not Reported (14)
Case Ethnicity
Not Reported (14)
Case Disease Diagnosis
Alveolar Rhabdomyosarcoma (14)
Case Tumor Site
Genitourinary Not Bladder/Prostate (1); Head/Neck (3); Limbs (4); Paratesticular (1); Pelvis (2); Retroperitoneum (3)
Additional Data Elements
GEO STUDY IDENTIFIER
Grant Information
GSP04289
Telethon, Italy
Published In
https://doi.org/10.1002/ijc.21698
Charts
Female (8); Male (6)
8Female