الفهرس 
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Abstract
Neuroblastoma is the most common extracranial solid tumor of
childhood and accounts for 15% of cancer-related deaths.
According to the international consensus for neuroblastoma molecular
diagnostics and genetic markers currently used for therapy stratification and
released 2009, MYCN ranks first in the list of the obligatory markers to be
studied. MYCN amplification strongly correlates with unfavorable outcome
in patients with neuroblastoma.
One aim of this work was to focus on the role played by three different
molecular diagnostic techniques to assess the status the MYCN oncogene in
40 neuroblastoma samples. The differences between the three techniques
were pointed out, and their suitablility to the conditions of the egyptian
molecular lab was particularly addressed.
Another aim of this work was to reveal the importance of MYCN as a bad
prognostic marker by examining (through appropriate statistical tests) the
correlation of the amplification of the MYCN oncogene with the different
clinical aspects of the patients as well as with other genetic markers
characterizing the neuroblastoma tumors.
The study was conducted on 40 neuroblastoma patients, both from the UK
and Egypt covering an age range of 8 months to 5 years disributed on both
sexes in a proportion of 2:1males to females.
Parafffin embedded formalin fixed samples were subjected to study by the
following molecular techniques:
1.Fluorescene in situ hybridization
2.Real time PCR
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3.Chromogenic in situ hybridization
Again, the use of the first two methods came in agreement with the
recommendations of the international neuroblastoma risk committee for the
year 2009, while CISH technique was postulated as an alternative to the more
expensive and sophisticated FISH technique, a postulation backed up by
experiences of many molecular laboratories worldwide.
FISH technique was used for the determination of MYCN copy number, as
well as for examining the tumors for 1p36 deletion and/or for 17q gain in 20
patients, while CISH was used for the determination MYCN status in another
20 patients, the results were all compared with those obtained by real time
PCR in each group.
MYCN amplification was found in 11 cases out of 40 at a frequency similar
to that mentioned in literature. MYCN amplification correlated to more
advanced stages of neuroblastoma, to poor tumor differentiation, and to high
ferritin and neuronspecific enolase levels.
Both FISH and CISH showed a high concordance of their findings with the
real time PCR results for the same cases.