The prognostic value of p53 mutation in pediatric marrow hypoplasia

<p>Abstract</p> <p>Background</p> <p>The tumor suppressor gene p53 is involved in the control of cell proliferation, particularly in stressed cells. p 53 gene mutations are the most frequent genetic event found in human cancers. Fanconi Anemia (FA) is the most common re...

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Main Authors: Sharaf Alzahraa EA, Attia Fadia M, Abo-Elwafa Hasnaa A
Format: Article
Language:English
Published: BMC 2011-06-01
Series:Diagnostic Pathology
Online Access:http://www.diagnosticpathology.org/content/6/1/58
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spelling doaj-4764fbf383ea4d628aabf771399a78322020-11-24T20:59:25ZengBMCDiagnostic Pathology1746-15962011-06-01615810.1186/1746-1596-6-58The prognostic value of p53 mutation in pediatric marrow hypoplasiaSharaf Alzahraa EAAttia Fadia MAbo-Elwafa Hasnaa A<p>Abstract</p> <p>Background</p> <p>The tumor suppressor gene p53 is involved in the control of cell proliferation, particularly in stressed cells. p 53 gene mutations are the most frequent genetic event found in human cancers. Fanconi Anemia (FA) is the most common representative of inherited bone marrow failure syndromes (IBMFS) with a leukemic propensity. P 53 DNA alteration has not been studied before in Egyptian children with FA.</p> <p>Patients and methods</p> <p>we investigated p53 mutation in the bone marrow and peripheral blood of forty children, FA (n = 10), acquired aplastic anemia (AAA) (n = 10), and immune thrombocytopenia (ITP) as a control (n = 20), using real-time PCR by TaqMan probe assay</p> <p>Results</p> <p>Mutation of p53 gene was demonstrated in the BM of 90% (9/10) of children with FA, compared to 10% (1/10) in AAA (p < 0.001), while, no p53 DNA mutation was seen in the control group. A positive correlation between DNA breakage and presence of p53 mutation was seen in FA (p < 0.02, r0.81).</p> <p>Conclusion</p> <p>mutation of p53 gene in hypoplastic marrow especially FA may represent an early indicator of significant DNA genetic alteration with cancer propensity.</p> http://www.diagnosticpathology.org/content/6/1/58
collection DOAJ
language English
format Article
sources DOAJ
author Sharaf Alzahraa EA
Attia Fadia M
Abo-Elwafa Hasnaa A
spellingShingle Sharaf Alzahraa EA
Attia Fadia M
Abo-Elwafa Hasnaa A
The prognostic value of p53 mutation in pediatric marrow hypoplasia
Diagnostic Pathology
author_facet Sharaf Alzahraa EA
Attia Fadia M
Abo-Elwafa Hasnaa A
author_sort Sharaf Alzahraa EA
title The prognostic value of p53 mutation in pediatric marrow hypoplasia
title_short The prognostic value of p53 mutation in pediatric marrow hypoplasia
title_full The prognostic value of p53 mutation in pediatric marrow hypoplasia
title_fullStr The prognostic value of p53 mutation in pediatric marrow hypoplasia
title_full_unstemmed The prognostic value of p53 mutation in pediatric marrow hypoplasia
title_sort prognostic value of p53 mutation in pediatric marrow hypoplasia
publisher BMC
series Diagnostic Pathology
issn 1746-1596
publishDate 2011-06-01
description <p>Abstract</p> <p>Background</p> <p>The tumor suppressor gene p53 is involved in the control of cell proliferation, particularly in stressed cells. p 53 gene mutations are the most frequent genetic event found in human cancers. Fanconi Anemia (FA) is the most common representative of inherited bone marrow failure syndromes (IBMFS) with a leukemic propensity. P 53 DNA alteration has not been studied before in Egyptian children with FA.</p> <p>Patients and methods</p> <p>we investigated p53 mutation in the bone marrow and peripheral blood of forty children, FA (n = 10), acquired aplastic anemia (AAA) (n = 10), and immune thrombocytopenia (ITP) as a control (n = 20), using real-time PCR by TaqMan probe assay</p> <p>Results</p> <p>Mutation of p53 gene was demonstrated in the BM of 90% (9/10) of children with FA, compared to 10% (1/10) in AAA (p < 0.001), while, no p53 DNA mutation was seen in the control group. A positive correlation between DNA breakage and presence of p53 mutation was seen in FA (p < 0.02, r0.81).</p> <p>Conclusion</p> <p>mutation of p53 gene in hypoplastic marrow especially FA may represent an early indicator of significant DNA genetic alteration with cancer propensity.</p>
url http://www.diagnosticpathology.org/content/6/1/58
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