Clinical impact of genetic alterations including germline DDX41 mutations in MDS/low-blast count AML patients treated with azacitidine-based regimens

Marie Sébert; Lucie Freiman; Cendrine Chaffaut; Agnès Guerci; Pierre Peterlin; Sylvain Thépot; Odile Beyne-Rauzy; Sophie Park; Thomas Cluzeau; Fatiha Chermat; Pierre Fenaux; Claude Preudhomme; Emmanuelle Clappier; Sylvie Chevret; Lionel Adès; Nicolas Duployez; Matthieu Duchmann

doi:10.1038/s41375-024-02180-3

Clinical impact of genetic alterations including germline DDX41 mutations in MDS/low-blast count AML patients treated with azacitidine-based regimens

Leukemia. 2024 Apr;38(4):918-922. doi: 10.1038/s41375-024-02180-3. Epub 2024 Feb 17.

Authors

Marie Sébert^{1

2

3}, Lucie Freiman⁴, Cendrine Chaffaut⁵, Agnès Guerci^{6

7}, Pierre Peterlin^{6

8}, Sylvain Thépot^{6

9}, Odile Beyne-Rauzy^{6

10}, Sophie Park^{6

11}, Thomas Cluzeau^{6

12}, Fatiha Chermat⁶, Pierre Fenaux^{13

4

6}, Claude Preudhomme¹⁴, Emmanuelle Clappier^{13

15}, Sylvie Chevret⁵, Lionel Adès^{13

4

6}, Nicolas Duployez^{13

14

15}, Matthieu Duchmann^{16

17}

Affiliations

¹ Université de Paris, Unité 944/7212-GenCellDi, INSERM and Centre National de la Recherche Scientifique (CNRS), Paris, France. marie.sebert@aphp.fr.
² Hematology Department, Saint Louis Hospital, AP-HP, Paris, France. marie.sebert@aphp.fr.
³ Groupe Francophone des Myelodysplasies, Paris, France. marie.sebert@aphp.fr.
⁴ Hematology Department, Saint Louis Hospital, AP-HP, Paris, France.
⁵ Biostatistics Department, Saint Louis Hospital, AP-HP, Paris, France.
⁶ Groupe Francophone des Myelodysplasies, Paris, France.
⁷ Hematology Department, CHU Brabois Vandoeuvre, Nancy, France.
⁸ Hematology Department, Nantes University Hospital, Nantes, France.
⁹ Hematology Department, Angers University Hospital, Angers, France.
¹⁰ Hematology Department, CHU de Toulouse, Institut Universitaire du Cancer Toulouse Oncopole, Toulouse, France.
¹¹ Hematology Department, Grenoble University Hospital, Grenoble, France.
¹² Hematology Department, Nice University Hospital, Nice, France.
¹³ Université de Paris, Unité 944/7212-GenCellDi, INSERM and Centre National de la Recherche Scientifique (CNRS), Paris, France.
¹⁴ Hematology Laboratory, Unité 1277-Cancer Heterogeneity Plasticity and Resistance to Therapies (CANTHER), Centre Hospitalier Universitaire (CHU) de Lille, University of Lille, Institut National de la Santé et de la Recherche Médicale (INSERM), Lille, France.
¹⁵ Hematology Laboratory, Saint Louis Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
¹⁶ Université de Paris, Unité 944/7212-GenCellDi, INSERM and Centre National de la Recherche Scientifique (CNRS), Paris, France. matthieu.duchmann@aphp.fr.
¹⁷ Hematology Laboratory, Saint Louis Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France. matthieu.duchmann@aphp.fr.

PMID: 38368440
DOI: 10.1038/s41375-024-02180-3

No abstract available

Publication types

Letter

MeSH terms

Azacitidine* / therapeutic use
DEAD-box RNA Helicases / genetics
Germ Cells
Humans
Leukemia, Myeloid, Acute* / drug therapy
Leukemia, Myeloid, Acute* / genetics
Mutation

Substances

Azacitidine
DDX41 protein, human
DEAD-box RNA Helicases