C - Chemistry – Metallurgy – 12 – Q
Patent
C - Chemistry, Metallurgy
12
Q
C12Q 1/68 (2006.01)
Patent
CA 2743074
The invention is in the field of molecular diagnostics for cancer, in particular for acute myeloid leukemia (AML). The invention provides methods for diagnosing AML patients with a favourable prognosis. We have found that not all AML patients carrying a CEBPA mutation may have a more favourable prognosis. We found that only the group with double mutations, i.e. biallelic mutations, have a particularly favourable prognosis. We also found a method that distinguishes mono-allelic CEBPA mutations from bi-allelic mutations, based on the detection of a specific pattern of gene expression.
La présente invention concerne le domaine du diagnostic moléculaire du cancer, en particulier de la leucémie myéloïde aiguë (LMA). Linvention concerne des méthodes permettant de diagnostiquer des patients atteints de LMA, dont le pronostic est favorable. Nous avons découvert que les patients atteints de LMA et portant une mutation CEBPA peuvent ne pas tous présenter un pronostic plus favorable. Nous avons découvert que seul le groupe porteur de doubles mutations, cest-à-dire des mutations bialléliques, présente un pronostic particulièrement favorable. Nous avons également découvert une méthode qui permet de faire la distinction entre des mutations CEBPA mono-alléliques et des mutations bialléliques sur la base de la détection d'un motif spécifique d'expression génique.
Delwel Hendrik Rudolf
Loewenberg Bob
Valk Peter Jacobus Maria
Van Beers Erik
Wouters Bas
Erasmus University Medical Center Rotterdam
Smart & Biggar
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