Publication: Genetic and molecular alterations in rhabdomyosarcoma: mRNA overexpression of MCL1 and MAP2K4 genes
Authors
Pazzaglia, Laura ; Chiechi, Antonella ; Conti, Amalia ; Gamberi, Gabriella ; Magagnoli, Giovanna ; Novello, Chiara ; Morandi, Luca ; Picci, Piero ; Mercuri, Mario ; Benassi, M.S.
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Publisher
Murcia : F. Hernández
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DOI
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info:eu-repo/semantics/article
Description
Abstract
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.
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