Zenz, T., Vollmer, D., Trbusek, M., Smardova, J., Benner, A., Soussi, T., Helfrich, H., Heuberger, M., Hoth, P., Fuge, M., Denzel, T., Haebe, S., Malcikova, J., Kuglik, P., Truong, S., Patten, N., Wu, L., Oscier, D., Ibbotson, R., Gardiner, A., Tracy, I., Lin, K., Pettitt, A., Pospisilova, S., Mayer, J., Hallek, M., Doehner, H. and Stilgenbauer, S. (2010). TP53 mutation profile in chronic lymphocytic leukemia: evidence for a disease specific profile from a comprehensive analysis of 268 mutations. Leukemia, 24 (12). S. 2072 - 2080. LONDON: NATURE PUBLISHING GROUP. ISSN 0887-6924

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Abstract

The TP53 mutation profile in chronic lymphocytic leukemia (CLL) and the correlation of TP53 mutations with allele status or associated molecular genetics are currently unknown. We performed a large mutation analysis of TP53 at four centers and characterized the pattern of TP53 mutations in CLL. We report on 268 mutations in 254 patients with CLL. Missense mutations appeared in 74% of cases compared with deletions and insertions (20%), nonsense (4%) and splice site (2%) mutations. The majority (243 of 268) of mutations were located in the DNA-binding domain. Transitions were found in 131 of 268 mutations, with only 41 occurring at methylated CpG sites (15%), suggesting that transitions at CpGs are uncommon. The codons most frequently mutated were at positions 175, 179, 248 and 273; in addition, we detected a common 2-nt deletion in the codon 209. Most mutations (199 of 259) were accompanied by deletion of the other allele (17p-). Interestingly, trisomy 12 (without 17p-) was only found in one of 60 cases with TP53 mutation (without 17p-) compared with 60 of 16 in the cohort without mutation (P=0.006). The mutational profile was not different in the cohorts with and without previous therapy, suggesting that the mechanism underlying the development of mutations may be similar, independent of treatment. Leukemia (2010) 24, 2072-2079; doi:10.1038/leu.2010.208; published online 23 September 2010

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Zenz, T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vollmer, D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Trbusek, M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Smardova, J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Benner, A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Soussi, T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Helfrich, H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heuberger, M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoth, P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fuge, M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Denzel, T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haebe, S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Malcikova, J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kuglik, P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Truong, S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Patten, N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wu, L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Oscier, D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ibbotson, R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gardiner, A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tracy, I.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lin, K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pettitt, A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pospisilova, S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mayer, J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hallek, M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Doehner, H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stilgenbauer, S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-491879
DOI: 10.1038/leu.2010.208
Journal or Publication Title: Leukemia
Volume: 24
Number: 12
Page Range: S. 2072 - 2080
Date: 2010
Publisher: NATURE PUBLISHING GROUP
Place of Publication: LONDON
ISSN: 0887-6924
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
Oncology; HematologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/49187

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