Genetic and molecular alterations in rhabdomyosarcoma: mRNA overexpression of MCL1 and MAP2K4 genes

Laura Pazzaglia, Antonella Chiechi, Amalia Conti, Gabriella Gamberi, Giovanna Magagnoli, Chiara Novello, Luca Morandi, Piero Picci, Mario Mercuri, Maria Serena Benassi

Research output: Contribution to journalArticlepeer-review


Rhabdomyosarcoma, the most common soft tissue sarcoma in childhood, belongs to the small round cell tumor family and is classified according to its histopathological features as embryonal, alveolar and pleomorphic. In this study we propose to explore genetic alterations involved in rhabdomyosarcoma tumorigenesis and assess the level of mRNA gene expression of controlling survival signalling pathways. For genetic and molecular analysis, array-based comparative genomic hybridization, combined with Real Time PCR using the comparative method, was performed on 14 primary well-characterized human primary rhabdomyosarcomas. Multiple changeg affecting chromosome arms were detected in all cases, including gain or loss of specific regions harbouring cancer progression-associated genes. Evaluation of mRNA levels showed in the majority of cases overexpression of MCL1 and MAP2K4 genes, both involved in cell viability regulation. Our findings on rhabdomyosarcoma samples showed multiple copy number alterations in chromosome regions implicated in malignancy progression and indicated a strong expression of MAP2K4 and MCL1 genes, both involved in different biological functions of complicated signalling pathways.

Original languageEnglish
Pages (from-to)61-67
Number of pages7
JournalHistology and Histopathology
Issue number1
Publication statusPublished - 2009


  • CGH-microarray
  • Gene expression
  • Real-Time PCR
  • Rhabdomyosarcoma

ASJC Scopus subject areas

  • Histology
  • Pathology and Forensic Medicine


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