PMID- 18813817
OWN - NLM
STAT- MEDLINE
DCOM- 20081104
LR  - 20080924
IS  - 1021-335X (Print)
IS  - 1021-335X (Linking)
VI  - 20
IP  - 4
DP  - 2008 Oct
TI  - An unusual p53 mutation detected in Burkitt's lymphoma: 30 bp duplication.
PG  - 773-8
AB  - Burkitt's lymphomas (BL) are aggressive rapidly growing tumors typified by a high 
      c-myc expression resulting from t(8;14)(q24;q32), t(2;8)(p12;q24) or 
      t(8;22)(q24;q11) translocations. Alterations of the p53 tumor suppressor are also 
      relatively frequent in BL. Several approaches have been adopted for detection of 
      the p53 aberrations such as immunohistochemical analyses, immunoblotting, DNA 
      sequencing, fluorescence in situ hybridization (FISH), and functional assays. We 
      used these methods to characterize the p53 mutation in tumor cells of a 
      53-year-old male suffering from Burkitt's lymphoma. By immunohistochemical 
      analyses, we detected high levels of the p53 protein in the tumor tissue. 
      Immunoblotting showed a higher molecular weight of the p53 protein overexpressed 
      in the tumor tissues than that of the standard p53 protein. Similarly, the 
      molecular weight of the PCR product prepared by amplification of the tumor p53 
      cDNA was higher than that of the standard p53 cDNA. Functional analyses of 
      separated alleles in yeast evidently revealed that the tumor p53 protein was 
      transcriptionally non-functional. The yeast colonies expressing this p53 variant 
      possessed a unique phenotype in that they were red with many white spots on their 
      surface. Sequencing of the tumor cDNA revealed a duplication of the 30 bp region 
      of the p53 gene (g.12155_12184dup30) leading to a repeat of 10 amino acids 
      (Pro-77 to Ala-86) in the p53 protein. Further analyses showed that the mutation 
      was unstable in yeast cells. The FISH analyses did not confer loss of the 
      p53-specific locus 17p13.
FAU - Smardova, Jana
AU  - Smardova J
AD  - Department of Pathology, University Hospital, 625 00 Brno, Czech Republic. 
      janasmarda@seznam.cz
FAU - Grochova, Diana
AU  - Grochova D
FAU - Fabian, Pavel
AU  - Fabian P
FAU - Moulis, Mojmir
AU  - Moulis M
FAU - Smarda, Jan
AU  - Smarda J
FAU - Falkova, Iva
AU  - Falkova I
FAU - Ravcukova, Barbora
AU  - Ravcukova B
FAU - Vankova, Jana
AU  - Vankova J
FAU - Vasova, Ingrid
AU  - Vasova I
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Greece
TA  - Oncol Rep
JT  - Oncology reports
JID - 9422756
RN  - 0 (DNA, Complementary)
RN  - 0 (Tumor Suppressor Protein p53)
SB  - IM
MH  - Burkitt Lymphoma/*genetics
MH  - DNA, Complementary/chemistry
MH  - *Gene Duplication
MH  - *Genes, p53
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Tumor Suppressor Protein p53/analysis
EDAT- 2008/09/25 09:00
MHDA- 2008/11/05 09:00
CRDT- 2008/09/25 09:00
PHST- 2008/09/25 09:00 [pubmed]
PHST- 2008/11/05 09:00 [medline]
PHST- 2008/09/25 09:00 [entrez]
PST - ppublish
SO  - Oncol Rep. 2008 Oct;20(4):773-8.