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Open Access Research

The prognostic value of p53 mutation in pediatric marrow hypoplasia

Hasnaa A Abo-Elwafa1*, Fadia M Attia2 and Alzahraa EA Sharaf3

Author Affiliations

1 Deptartment of Clinical Pathology, Faculty of Medicine, Sohag University, University Street, Sohag, Egypt

2 Deptartment of Clinical Pathology, Faculty of Medicine, Suez Canal University, New University Street, Suez Canal, Egypt

3 Deptartment of Pediatric, Faculty of Medicine, Sohag University, University Street, Sohag, Egypt

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Diagnostic Pathology 2011, 6:58  doi:10.1186/1746-1596-6-58

Published: 30 June 2011

Abstract

Background

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.

Patients and methods

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

Results

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).

Conclusion

mutation of p53 gene in hypoplastic marrow especially FA may represent an early indicator of significant DNA genetic alteration with cancer propensity.