Publication: Molecular alterations of monophasic
synovial sarcoma: loss of chromosome 3p does
not alter RASSF1 and MLH1 transcriptional activity
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Date
2006
Authors
Pazzaglia, L. ; Benassi, M.S. ; Ragazzini, P. ; Gamberi, G. ; Ponticelli, F. ; Chiechi, A. ; Hattinger, C.M. ; Morandi, Luca ; Alberghini, M. ; Zanella, L. ; Picci, P. ; Mercuri, Mario
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Publisher
Murcia : F. Hernández
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Description
Abstract
Differential diagnosis of monophasic
synovial sarcoma requires the detection of specific
biological markers. In this study we evaluated the
presence of molecular alterations in 15 monophasic
synovial sarcomas. Multiple changes affecting
chromosome arms were detected by CGH-array in all
microdissected cases available, and an association
between gain or loss of specific regions harbouring
cancer progression-associated genes and aneuploid
status was found. The most frequent alteration was loss
of 3p including 3p21.3-p23 region that, however, did not
involve the promoter regions of the corresponding genes,
RASSF1 and MLH1. Using Real-Time PCR, mRNA
levels of both resulted moderately high compared to
normal tissue; however, the weak to absent protein
expression suggests RASSF1 and MLH1 posttranscription
deregulation. Moreover, immunohistochemical
analysis revealed that both mesenchymal
and epithelial antigens were present in diploid tumours.
These findings confirm the genetic complexity of
monophasic synovial sarcoma and underline the need to
integrate different analyses for a better knowledge of this
tumour, essential to investigate new diagnostic and
prognostic markers.
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