HISTOLOGY AND HISTOPATHOLOGY

Cellular and Molecular Biology

 

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

Laura Pazzaglia1, Antonella Chiechi1, Amalia Conti1, Gabriella Gamberi1, Giovanna Magagnoli1, Chiara Novello1, Luca Morandi2, Piero Picci1, Mario Mercuri3 and Maria Serena Benassi1

1Laboratory of Oncologic Research, and 35th Orthopaedic Division, Rizzoli Orthopaedic Institute, Bologna, Italy and 2Department of Pathology, Bellaria Hospital, Bologna, Italy.

Offprint requests to: Laura Pazzaglia, Oncologic Research Laboratory, Istituti Ortopedici Rizzoli, Via di Barbiano 1/10, 40136 Bologna, Italy. e-mail: laura.pazzaglia@ior.it


Summary. 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 changes 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. Histol Histopathol 24, 61-67 (2009)

Key words: CGH-microarray, Gene expression, Real-Time PCR, Rhabdomyosarcoma

DOI: 10.14670/HH-24.61