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Mutations in TP53 are exclusively associated with del(17p) in multiple myeloma

2010; Ferrata Storti Foundation; Volume: 95; Issue: 11 Linguagem: Inglês

10.3324/haematol.2010.023697

1592-8721

Laurence Lodé, Marion Eveillard, Valérie Trichet, Thierry Soussi, Soraya Wuillème, Steven Richebourg, Florence Magrangeas, Norbert Ifrah, L. Campion, Catherine Traullé, François Guilhot, Denis Caillot, Gérald Marit, Claire Mathiot, Thierry Façon, Michel Attal, Jean‐Luc Harousseau, Philippe Moreau, Stéphane Minvielle, Hervé Avet‐Loiseau,

Ubiquitin and proteasome pathways

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.