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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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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