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Incidence of ATRX mutations in myelodysplastic syndromes, the value of microcytosis

Charles Herbaux 1, 2 Nicolas Duployez 3 Catherine Badens 4 Nicolas Poret 5 Claude Gardin 6 Mathieu Decamp 7 Virginie Eclache 8 Sylvie Daliphard 9 Anne Murati 10 Pascale Cony-Makhoul 11 Stéphane Cheze 12 Blandine Beve 13 Caroline Lacoste 4 Thomas Prebet 10 Mathilde Hunault-Berger 14, 15 Frédéric Maloisel 16 Aline Renneville 3 Martin Figeac 5 Aspasia Stamatoullas-Bastard 17 Christian Bastard 17 Pierre Fenaux 13 Claude Preudhomme 3 Christian Rose 1
1 Service d'Hématologie [Institut Catholique de Lille, Lille]
2 Service des Maladies du Sang [CHRU Lille]
3 Centre de Biologie et de Pathologie - Laboratoire d'Hématologie [CHRU Lille]
4 Laboratoire de Génétique Moléculaire [Hôpital de la Timone - APHM]
Département de génétique médicale [Hôpital de la Timone - APHM]
5 IRCL - Institut pour la recherche sur le cancer de Lille [Lille]
6 Hôpital Avicenne [AP-HP]
7 Service de Génétique [CHU Caen]
8 Service d'hématologie biologique [Avicenne]
9 Service d'Hématologie Biologique [Hôpital Robert Debré, Paris]
10 Institut Paoli-Calmettes
11 Service d'Hématologie [CH Annecy]
12 Laboratoire d'Hématologie Biologique [CHU Caen]
13 Service d'hématologie clinique [Avicenne]
14 CRCNA - Centre de Recherche en Cancérologie Nantes-Angers
15 Service d'hématologie [Angers]
16 Laboratoire d'Hématologie [Strasbourg]
17 CLCC Henri Becquerel - Centre de Lutte Contre le Cancer Henri Becquerel Normandie Rouen
Abstract : Acquired α-thalassemia myelodysplastic syndrome (MDS) (ATMDS) is an acquired syndrome characterized by a somatic point mutation or splicing defect in the ATRX gene in patients with myeloid disorders, primarily MDS. In a large MDS patient series, the incidence of ATMDS was below 0.5%. But no large series has yet assessed the incidence of ATMDS in microcytic MDS. In this study, we focused on patients with MDS and unexplained microcytosis, which was defined as absence of iron deficiency, inflammatory disease, or history of inherited hemoglobinopathy. Our data confirm the low frequency of ATRX mutations in MDS: 0% in an unselected clinical trial cohort of 80 low risk MDS, 0.2-0.8% in a multicenter registry of 2,980 MDS and 43% of MDS with unexplained microcytosis in this same registry. In addition, we reported four novel mutations of the ATRX gene in ATMDS. This study further determines the frequency of ATRX mutations and highlights the importance of microcytosis to detect ATRX mutations within MDS patients.
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https://www.hal.inserm.fr/inserm-02913994
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INSERM | UNAM | PHARMA-AMU | UNIV-AMU | UNICAEN | CNRS | UNIV-PARIS13 | COMUE-NORMANDIE | USPC

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Charles Herbaux, Nicolas Duployez, Catherine Badens, Nicolas Poret, Claude Gardin, et al.. Incidence of ATRX mutations in myelodysplastic syndromes, the value of microcytosis. American Journal of Hematology, Wiley, 2015, 90 (8), pp.737-738. ⟨10.1002/ajh.24073⟩. ⟨inserm-02913994⟩

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