Mutations in TP53 are exclusively associated with del(17p) in multiple myeloma.
نویسندگان
چکیده
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.
منابع مشابه
Prevalence and timing of TP53 mutations in del(17p) myeloma and effect on survival
The recent remarkable advances in multiple myeloma (MM) therapy and outcomes have had mixed impact on patients with adverse risk genetics, many of whom continue to have inferior outcomes. This applies particularly to deletion of chromosome 17p13 [del(17p)], found in ≈10% of newly diagnosed MM (ND) and at higher prevalence in advanced disease. The TP53 gene is located within the minimally delete...
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ورودعنوان ژورنال:
- Haematologica
دوره 95 11 شماره
صفحات -
تاریخ انتشار 2010