The prognostic value of p53 mutation in pediatric marrow hypoplasia.

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.

• Authors: Hasnaa A Abo-Elwafa, Fadia M Attia, Alzahraa E A Sharaf
• Journal: Diagnostic pathology (Diagn Pathol) Vol. 6 Pg. 58 (Jun 30 2011) ISSN: 1746-1596 [Electronic] England
• PMID: 21718492 (Publication Type: Journal Article)

Chemical References

• Mitomycin

Topics

• Adolescent
• Anemia, Aplastic (diagnosis, genetics)
• Autoimmune Diseases (diagnosis, genetics, immunology)
• Bone Marrow Cells (pathology)
• Child
• Child, Preschool
• Chromosome Breakage
• Chromosomes, Human
• DNA Mutational Analysis
• Fanconi Anemia (diagnosis, genetics)
• Female
• Genes, p53
• Humans
• Male
• Mitomycin
• Mutation
• Prognosis
• Thrombocytopenia (diagnosis, genetics, immunology)