PMID- 22933333
OWN - NLM
STAT- MEDLINE
DCOM- 20130729
LR  - 20121005
IS  - 1098-2264 (Electronic)
IS  - 1045-2257 (Linking)
VI  - 51
IP  - 12
DP  - 2012 Dec
TI  - Incidence of 17p deletions and TP53 mutation in myelodysplastic syndrome and 
      acute myeloid leukemia with 5q deletion.
PG  - 1086-92
LID - 10.1002/gcc.21993 [doi]
AB  - TP53 mutations are frequent in myelodysplastic syndrome (MDS) and acute myeloid 
      leukemia (AML) with complex karyotype that include del(5q) and are often 
      associated with deletion of 17p. They have also recently been observed in MDS 
      with isolated del(5q). We assessed the incidence of 17p deletion detected by 
      fluorescence in situ hybridization (FISH) and of TP53 mutations detected by 
      direct sequencing and their correlation and prognostic value in 26 MDS and 17 AML 
      with del(5q). In the 20 cases with isolated del(5q) or one additional 
      abnormality, no 17p deletion was found and 3 of the 18 cases analyzed (17%) had 
      TP53 mutation. In the 23 patients with complex karyotype, 17p deletion was 
      suspected by conventional cytogenetics in 15 cases and confirmed by FISH in 10 of 
      them, while TP53 mutation was found in 8 of the 15 patients tested (53%), only 
      five of whom had 17p deletion. In the whole patient series, TP53 mutations were 
      associated with shorter survival (P = 0.07). We confirm the existence of TP53 
      mutations in 17% of MDS with isolated del(5q). In patients with del(5q) and 
      complex karyotype, FISH and direct sequencing are complementary techniques to 
      analyze TP53 abnormalities. Our findings also suggest that sequencing of the TP53 
      gene should be included in the study of patients with del(5q) as a single 
      abnormality or in complex karyotype before lenalidomide treatment.
CI  - Copyright (c) 2012 Wiley Periodicals, Inc.
FAU - Sebaa, Amel
AU  - Sebaa A
AD  - Laboratoire d'Hematologie, Hopital Avicenne, Assistance Publique-Hopitaux de 
      Paris (AP-HP)/Universite Paris 13, Bobigny. France.
FAU - Ades, Lionel
AU  - Ades L
FAU - Baran-Marzack, Fanny
AU  - Baran-Marzack F
FAU - Mozziconacci, Marie-Joelle
AU  - Mozziconacci MJ
FAU - Penther, Dominique
AU  - Penther D
FAU - Dobbelstein, Sophie
AU  - Dobbelstein S
FAU - Stamatoullas, Aspasia
AU  - Stamatoullas A
FAU - Recher, Christian
AU  - Recher C
FAU - Prebet, Thomas
AU  - Prebet T
FAU - Moulessehoul, Soraya
AU  - Moulessehoul S
FAU - Fenaux, Pierre
AU  - Fenaux P
FAU - Eclache, Virginie
AU  - Eclache V
LA  - eng
PT  - Journal Article
DEP - 20120830
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (TP53 protein, human)
RN  - 0 (Tumor Suppressor Protein p53)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 5/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Leukemia, Myeloid, Acute/*genetics
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Myelodysplastic Syndromes/*genetics
MH  - Tumor Suppressor Protein p53/*genetics
EDAT- 2012/08/31 06:00
MHDA- 2013/07/31 06:00
CRDT- 2012/08/31 06:00
PHST- 2012/03/19 00:00 [received]
PHST- 2012/07/06 00:00 [revised]
PHST- 2012/07/09 00:00 [accepted]
PHST- 2012/08/31 06:00 [entrez]
PHST- 2012/08/31 06:00 [pubmed]
PHST- 2013/07/31 06:00 [medline]
AID - 10.1002/gcc.21993 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2012 Dec;51(12):1086-92. doi: 10.1002/gcc.21993. Epub 
      2012 Aug 30.