الفهرس 
Literature ReviewOnly 14 pages are availabe for public view
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Abstract
PTEN is one of the tumor suppressor genes involved in secondary cancer progression prevention. In Egypt, Prostate Adenocarcinoma (PCa) recorded the
highest incidence and mortality among cancers of the genitourinary system.
Aim: The study aimed to detect the presence of mutations along exons 5 & 7 in the
tumor suppressor PTEN gene in BPH and PCa patients and correlate between PTEN
and the pathogenesis of both patient groups.
Patients and Methods: Twenty benign and malignant patients were recruited, as well
as seven apparently normal subject served as controls. Whole blood samples were
collected from patients previously diagnosed using TRUS-Biopsies. Control subjects
were free of chronic disorders and tumors, yet some had family history of benign and
malignant tumors. Studied groups had age range between 54 and 77yrs that averaged
64 ± 7.5 and average PSA level of 2.3, 19.9 and 35ng/ml for Control, BPH and PCa
groups respectively. PCR were performed, using intronic primers specific for exons 5
and 7, to map possible mutations (for positive PCR reactions sequencing done using
both forward and reverse primers).
Results: Analyzing mutations mapped for the selected studied groups proved the
likeliness of correlating between both BPH and PCa patients. PTEN association in
PCa patient was correlated with their pathology findings and clinical picture. One
patient out of 10 showing complete deletion had the highest Gleason score (9) and
worst clinical picture, two patients out of 10 showed partial deletion (one losing the
phosphatase function and the other losing the C2 domain of the direct protein
binding). Upon thorough analysis high occurring genotypes were defined. Ten
mutations were mapped across the exons and their near end site introns both upstream
and downstream revealing 5 potentially significant mutations. All 5 potentially
significant mutations (g.74482dupA, g.74818dupG, g.74845dupC and g.99506C>G,
g.99582dupA) shared the presence of the highly occurring genotypes except
g.99506C>G of exon 7 benign patient (7b6).
Conclusion: Mutations mapped have revealed some potentially significant mutant
variants of PTEN pointing towards its role in both BPH and PCa Pathology and the
possibility of a bridging correlation between both benign and malignant prostate
tumors.