The prognostic value of p53 mutation in pediatric marrow hypoplasia.

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.

Serological markers as indicators for congenital cytomegalovirus infection.

To assess the problem of CMV infection in pregnant women in Sohag community and to determine the risk of congenital CMV infection. The study was performed on 900 pregnant women residing in Sohag, during the period from June, 2006 till January 2010. Detection of CMV antibodies (IgM and IgG) was carried out using microparticle enzyme immunoassay. Women proved positive (+ve) for CMV IgM or IgG antibodies were considered the seropositive group (group 1), while women proved negative (-ve) for both antibodies were the seronegative group (group II). Serum samples of IgM +ve females and with rising IgG titers were further subjected to PCR to detect CMV DNA. Of the 900 pregnant women, 850 (94.4%) were seropositive for CMV antibodies. Of these, 828 females (97.4%) had +ve IgG and -ve IgM antibodies, and 22 (2.6%) women had positive IgM. Viral DNA was detected in 12 of the 22 IgM +ve and 8 out of 10 women with rising IgG titer. CMV antibodies and serum PCR were done for 15 live births whose mothers had positive CMV PCR. Of 7 infants whose mothers had CMV IgM and CMV PCR positive, 4 infants had positive PCR results. Eight live births, whose mothers had rising IgG titer and positive PCR test, were negative for viral DNA. In conclusions, CMV specific IgM or rising IgG antibodies in maternal serum could predict congenital CMV infection.