Mutations in TP53 are exclusively associated with del(17p) in multiple myeloma.
Deletion of the 17p13 chromosomal region [del(17p)] is associated with a poor outcome in multiple myeloma. Most of the studies have targeted the TP53 gene for deletion analyses, although no study showed that this gene is the deletion target. In order to address this issue, we sequenced the TP53 gene in 92 patients with multiple myeloma at diagnosis, 54 with a del(17p) and 38 lacking del(17p). At least one mutation was found in 20 patients, all of them presenting a del(17p). The analysis of the mutation location showed that virtually all of them occurred in highly conserved domains involved in the DNA-protein interactions. In conclusion, we showed that 37% of the myeloma patients with del(17p) present a TP53 mutation versus 0% in patients lacking the del(17p). The prognostic significance of these mutations remains to be evaluated.
Lodé
Laurence
L
Laboratoire d’Hématologie, University Hospital, Nantes, France.
Eveillard
Marion
M
Trichet
Valérie
V
Soussi
Thierry
T
Wuillème
Soraya
S
Richebourg
Steven
S
Magrangeas
Florence
F
Ifrah
Norbert
N
Campion
Loïc
L
Traullé
Catherine
C
Guilhot
François
F
Caillot
Denis
D
Marit
Gérald
G
Mathiot
Claire
C
Facon
Thierry
T
Attal
Michel
M
Harousseau
Jean-Luc
JL
Moreau
Philippe
P
Minvielle
Stéphane
S
Avet-Loiseau
Hervé
H
D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D018572:Disease-Free Survival; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009101:Multiple Myeloma / Q000235:genetics* / Q000401:mortality*; D012307:Risk Factors; D058496:Smith-Magenis Syndrome; D015996:Survival Rate; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53