title: 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.
  
  
  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).
  
  
  CONCLUSIONS
  mutation of p53 gene in hypoplastic marrow especially FA may represent an early indicator of significant DNA genetic alteration with cancer propensity.
authors: Department of Clinical Pathology, Faculty of Medicine, Sohag University, University Street, Sohag, Egypt. aboelwafahasnaa@yahoo.com
authors: Hasnaa A
authors: HA
authors: Abo-Elwafa
authors: Fadia M
authors: FM
authors: Attia
authors: Alzahraa E A
authors: AE
authors: Sharaf
mesh_terms: D000293:Adolescent; D000741:Anemia, Aplastic / Q000175:diagnosis* / Q000235:genetics; D001327:Autoimmune Diseases / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D001854:Bone Marrow Cells / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D019457:Chromosome Breakage; D002877:Chromosomes, Human; D004252:DNA Mutational Analysis; D005199:Fanconi Anemia / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D016158:Genes, p53; D006801:Humans; D008297:Male; D016685:Mitomycin; D009154:Mutation; D011379:Prognosis; D013921:Thrombocytopenia / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology
chemical_list: D016685:Mitomycin