Skip to Main content Skip to Navigation
Journal articles

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.
Document type :
Journal articles
Complete list of metadatas

Cited literature [8 references]  Display  Hide  Download

https://www.hal.inserm.fr/inserm-02913994
Contributor : Elizabeth Bernardo <>
Submitted on : Tuesday, August 11, 2020 - 9:10:43 AM
Last modification on : Friday, September 11, 2020 - 10:42:09 AM

File

 Restricted access
To satisfy the distribution rights of the publisher, the document is embargoed until : jamais

Please log in to resquest access to the document

Identifiers

Citation

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⟩

Share

Metrics

Record views

153