title: Incidence of ATRX mutations in myelodysplastic syndromes, the value of microcytosis.
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.
authors.affiliation: Service D'hématologie, Groupe Hospitalier De L'institut Catholique De Lille, Lille, France.|Service Des Maladies Du Sang, CHRU De Lille, Lille, France.
authors.forename: Charles
authors.initials: C
authors.lastname: Herbaux
authors.affiliation: Service D'hématologie Biologique, Centre De Biologie-Pathologie Du CHRU De Lille, Lille, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Duployez
authors.affiliation: APHM, Service Biologique De Génétique Moléculaire, Hôpital De La Timone, Marseille, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Badens
authors.affiliation: Institut De Recherche Sur Le Cancer De Lille, Lille, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Poret
authors.affiliation: Hopital Avicenne, AP-HP Paris, France.
authors.forename: Claude
authors.initials: C
authors.lastname: Gardin
authors.affiliation: Service de Génétique, CHU de Caen, France.
authors.forename: Mathieu
authors.initials: M
authors.lastname: Decamp
authors.affiliation: Hôpital Avicenne, Laboratoire d'Hématologie Biologique, AP-HP Paris, France.
authors.forename: Virginie
authors.initials: V
authors.lastname: Eclache
authors.affiliation: Laboratoire d'Hématologie, CHU Robert Debré, AP-HP Paris, France.
authors.forename: Sylvie
authors.initials: S
authors.lastname: Daliphard
authors.affiliation: Institut Paoli Calmettes, Marseille, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Murati
authors.affiliation: Service Hématologie CH d'Annecy, France.
authors.forename: Pascale
authors.initials: P
authors.lastname: Cony-Makhoul
authors.affiliation: Service Hématologie clinique CHRU Caen, France.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Cheze
authors.affiliation: Hôpital Avicenne Service Hématologie Clinique, AP-HP, France.
authors.forename: Blandine
authors.initials: B
authors.lastname: Beve
authors.affiliation: APHM, Service Biologique De Génétique Moléculaire, Hôpital De La Timone, Marseille, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Lacoste
authors.affiliation: Institut Paoli Calmettes, Marseille, France.
authors.forename: Thomas
authors.initials: T
authors.lastname: Prebet
authors.affiliation: Hématologie, CHU d'Angers, France.
authors.forename: Mathilde
authors.initials: M
authors.lastname: Hunault-Berger
authors.affiliation: Hématologie, CHU de Strasbourg, France.
authors.forename: Frédéric
authors.initials: F
authors.lastname: Maloisel
authors.affiliation: Service D'hématologie Biologique, Centre De Biologie-Pathologie Du CHRU De Lille, Lille, France.
authors.forename: Aline
authors.initials: A
authors.lastname: Renneville
authors.affiliation: Institut De Recherche Sur Le Cancer De Lille, Lille, France.
authors.forename: Martin
authors.initials: M
authors.lastname: Figeac
authors.affiliation: Centre Henri Becquerel, Rouen, France.
authors.forename: Aspasia
authors.initials: A
authors.lastname: Stamatoullas-Bastard
authors.affiliation: Centre Henri Becquerel, Rouen, France.
authors.forename: Christian
authors.initials: C
authors.lastname: Bastard
authors.affiliation: Hôpital Avicenne Service Hématologie Clinique, AP-HP, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Fenaux
authors.affiliation: Service D'hématologie Biologique, Centre De Biologie-Pathologie Du CHRU De Lille, Lille, France.
authors.forename: Claude
authors.initials: C
authors.lastname: Preudhomme
authors.affiliation: Service D'hématologie, Groupe Hospitalier De L'institut Catholique De Lille, Lille, France.
authors.forename: Christian
authors.initials: C
authors.lastname: Rose
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D004265:DNA Helicases / Q000235:genetics*; D004252:DNA Mutational Analysis; D015870:Gene Expression; D006412:Hematopoietic Stem Cells / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D008875:Middle Aged; D059645:Mutation Rate; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000378:metabolism / Q000401:mortality / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics*; D016019:Survival Analysis; D000075924:X-linked Nuclear Protein; D017085:alpha-Thalassemia / Q000235:genetics* / Q000378:metabolism / Q000401:mortality / Q000473:pathology
chemical_list: D009687:Nuclear Proteins; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein