The prognostic value of p53 mutation in pediatric marrow hypoplasia
| Autor: | Fadia M. Attia, Alzahraa E A Sharaf, Hasnaa A. Abo-Elwafa |
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| Rok vydání: | 2011 |
| Předmět: |
Male
Pathology medicine.medical_specialty Histology Adolescent Tumor suppressor gene Mitomycin DNA Mutational Analysis Bone Marrow Cells P53 Mutation Gene mutation Biology medicine.disease_cause Autoimmune Diseases Pathology and Forensic Medicine Fanconi anemia lcsh:Pathology medicine Chromosomes Human Humans Child Mutation Cell growth Research Anemia Aplastic Chromosome Breakage General Medicine Genes p53 Prognosis medicine.disease Thrombocytopenia Fanconi Anemia Child Preschool Immunology Female Chromosome breakage Marrow hypoplasia lcsh:RB1-214 |
| Zdroj: | Diagnostic Pathology, Vol 6, Iss 1, p 58 (2011) Diagnostic Pathology |
| ISSN: | 1746-1596 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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