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

被引：113

作者：

Lode, Laurence ^{[1
,2
,3
]}

Eveillard, Marion ^{[1
,2
,3
]}

Trichet, Valerie ^{[4
]}

Soussi, Thierry ^{[5
,6
]}

Wuilleme, Soraya ^{[1
,2
,3
]}

Richebourg, Steven ^{[1
,2
,3
]}

Magrangeas, Florence ^{[1
,2
,3
]}

Ifrah, Norbert ^{[7
]}

Campion, Loic ^{[8
]}

Traulle, Catherine ^{[9
]}

Guilhot, Francois ^{[10
]}

Caillot, Denis ^{[11
]}

Marit, Gerald ^{[12
]}

Mathiot, Claire ^{[13
]}

Facon, Thierry ^{[14
]}

Attal, Michel ^{[15
]}

Harousseau, Jean-Luc

Moreau, Philippe ^{[1
,2
,3
]}

Minvielle, Stephane ^{[1
,2
,3
]}

Avet-Loiseau, Herve ^{[1
,2
,3
]}

机构：

[1] Univ Hosp, Hematol Lab, F-44093 Nantes, France

[2] INSERM, U892, Ctr Rech Cancerol, Nantes, France

[3] Univ Hosp, Dept Hematol, F-44093 Nantes, France

[4] INSERM, U957, EA3822, Nantes, France

[5] Karolinska Inst, Dept Oncol Pathol, Canc Ctr Karolinska CCK, Stockholm, Sweden

[6] Univ Paris 06, Paris, France

[7] Univ Hosp, Dept Hematol, Angers, France

[8] Ctr Gauducheau, Dept Stat, Nantes, France

[9] Univ Hosp, Dept Hematol, Lyon, France

[10] Univ Hosp, Dept Hematol, Poitiers, France

[11] Univ Hosp, Dept Hematol, Dijon, France

[12] Univ Hosp, Dept Hematol, Bordeaux, France

[13] Inst Curie, Hematol Lab, Paris, France

[14] Univ Hosp, Dept Hematol, Lille, France

[15] Univ Hosp, Dept Hematol, Toulouse, France

来源：

HAEMATOLOGICA-THE HEMATOLOGY JOURNAL | 2010年 / 95卷 / 11期

关键词：

mutations; TP53; del(17p); multiple myeloma; CHRONIC LYMPHOCYTIC-LEUKEMIA; B-CELL LYMPHOMA; GENE-MUTATIONS; P53; GENE; INACTIVATION; SURVIVAL; PREDICT;

D O I：

10.3324/haematol.2010.023697

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1973 / 1976

页数：4

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