title: Mutations in TP53 are exclusively associated with del(17p) in multiple myeloma.
abstract: 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.
authors.affiliation: Laboratoire d’Hématologie, University Hospital, Nantes, France.
authors.forename: Laurence
authors.initials: L
authors.lastname: Lodé
authors.forename: Marion
authors.initials: M
authors.lastname: Eveillard
authors.forename: Valérie
authors.initials: V
authors.lastname: Trichet
authors.forename: Thierry
authors.initials: T
authors.lastname: Soussi
authors.forename: Soraya
authors.initials: S
authors.lastname: Wuillème
authors.forename: Steven
authors.initials: S
authors.lastname: Richebourg
authors.forename: Florence
authors.initials: F
authors.lastname: Magrangeas
authors.forename: Norbert
authors.initials: N
authors.lastname: Ifrah
authors.forename: Loïc
authors.initials: L
authors.lastname: Campion
authors.forename: Catherine
authors.initials: C
authors.lastname: Traullé
authors.forename: François
authors.initials: F
authors.lastname: Guilhot
authors.forename: Denis
authors.initials: D
authors.lastname: Caillot
authors.forename: Gérald
authors.initials: G
authors.lastname: Marit
authors.forename: Claire
authors.initials: C
authors.lastname: Mathiot
authors.forename: Thierry
authors.initials: T
authors.lastname: Facon
authors.forename: Michel
authors.initials: M
authors.lastname: Attal
authors.forename: Jean-Luc
authors.initials: JL
authors.lastname: Harousseau
authors.forename: Philippe
authors.initials: P
authors.lastname: Moreau
authors.forename: Stéphane
authors.initials: S
authors.lastname: Minvielle
authors.forename: Hervé
authors.initials: H
authors.lastname: Avet-Loiseau
mesh_terms: 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*
chemical_list: C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53