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Identifier |
000348350 |
Title |
Μελέτη του ρόλου των μεταλλαγών στα γονίδια p14ARF, p15INK4b και p16INK4a και της γενωμικής αστάθειας στην ακτινική υπερκεράτωση |
Author
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Κανέλλου, Πέγκυ
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Thesis advisor
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Σπαντίδος, Δημήτριος
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Reviewer
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Ζώρας, Οδυσσέας
Χρυσός, Ε.
Σαμώνης, Γ.
Κραμποβίτης, Η.
Σουρβίνος, Γ.
Κρασαγάκη, Κ.
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Abstract |
Actinic keratosis (AK) is a well-established pre-cancerous skin lesion that has the
potential to progress to squamous cell carcinoma (SCC). We investigated the
involvement of the CDKN2A, CDKN2B and p53 genes in AK and in the progression of
AK to SCC. Mutational analysis on exons 1a, 1b and 2 of the CDKN2A locus and exon
1 of the CDKN2B locus as well as allelic imbalance was performed in 26 AK
specimens. Expression levels of the genes p14ARF, p15INK4b, p16INK4a and p53 were
examined in 16 AKs and 12 SCCs by real-time RT-PCR. A previously-described
polymorphism of p16INK4a (Ala148Thr) was detected at an allelic frequency of 12%.
Six samples carried novel mutations at codon 71 of the CDKN2A locus and one
sample presented an additional mutation at codon 65. Two AK samples carried a notpreviously
described non-UV type missense mutation at codon 184 (Val184Glu) of
exon 1b in the p14ARF gene. Regarding the CDKN2B locus a new mutation at codon
50 (Ala50Thr) and another at codon 24 (Arg24Arg), were detected. Microsatellite
instability (MSI) was found in at 15% of AKs in at least one marker, indicating that
genetic instability has some implication in the development of AK. Down-regulation
of p16INK4a and p53 mRNA levels was noted in SCC compared to AK. TSGs expression
levels in sun-exposed morphologically normal-appearing skin, suggests that abnormal
growth stimuli might exist in these tissues as well. Furthermore, we suggest a
possible role of p15INK4b, independently from the intracellular pathway mediated by
p16INK4a, and of p14ARF in AK development, as well as in the progression of AK to
SCC. The deregulation of the expression profiles of the CDKN2A, CDKN2B and p53
genes may, independently of mutations and LOH at 9p21, play a significant role in
AK and progression of AK to SCC.
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Physical description |
xiii, 175 σ. : πιν. ; 30 εκ. |
Language |
Greek |
Subject |
Keratosis |
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Oncogenes |
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Skin Neoplasms |
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Νεοπλάσματα δέρματος |
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Υπερκεράτωση |
Issue date |
2008-04-03 |
Collection
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School/Department--School of Medicine--Department of Medicine--Doctoral theses
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Type of Work--Doctoral theses
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Permanent Link |
https://elocus.lib.uoc.gr//dlib/2/d/f/metadata-dlib-fd9209598dc0c7ecd18365e370869dda_1248944138.tkl
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Views |
197 |