L' anémie réfractaire sidéroblastique avec thrombocytose est-elle une entité indépendante?

L'Anémie Réfractaire avec Sidéroblastes en couronne (ARS) et Thrombocytose (ARS-T) a été proposée comme entité provisoire dans les classifications OMS 2001 et 2008, dans la mesure où son existence en tant qu'entité indépendante est contestée. Certains auteurs pensent que l'ARS-T est une forme particulière de Thrombocythémie Essentielle (TE). D'autres pensent que l'ARS-T est une forme d'ARS qui aurait développé secondairement une thrombocytose suite à l'acquisition de la mutation JAK2V617F ou de la mutation MPLW515L/K. En l'absence d'étude menée sur une large cohorte de patients, il était difficile de tirer une conclusion définitive sur la façon de caractériser et de classer cette pathologie. C est pourquoi nous avons réalisé une étude rétrospective multicentrique européenne, et réuni la plus grande cohorte publiée à ce jour, qui regroupe 200 cas d'ARS-T, auxquels nous avons comparé, pour ce qui est des caractéristiques cliniques, biologiques et pronostiques, 165 ARS et 454 TE. Les ARS-T avaient, au diagnostic, un nombre de globules blancs supérieur aux ARS, mais inférieur à la TE, et un compte plaquettaire inférieur et un volume globulaire moyen supérieur à celui de la TE. Au diagnostic, 42,9 % des ARS-T se présentaient avec une mutation JAK2V617F contre 72,6 % pour les TE et 10 % pour les ARS, sans que sa présence ait un impact sur la survie. Le risque de complications thrombotiques des ARS-T était équivalent à celui des TE, mais supérieur à celui des ARS, alors que le risque de transformation leucémique était équivalent à celui des ARS, mais supérieur à celui des TE. Quant à la survie globale des ARS-T, elle était meilleure que celle des ARS, mais plus péjorative que celle des TE. Le risque équivalent de complications thrombotiques entre ARS-T et TE suggère que le recours à un traitement antiagrégant devrait être envisagé dans les ARS-T. L hypothèse d une évolution des ARS en ARS-T par l acquisition d une mutation de type JAK2 et/ou MPL semble la plus probable, avec un profil génétique particulier, associant une mutation responsable de la thrombocytose et une mutation responsable de l'apparition de sidéroblastes en couronne. La description récente des mutations du spliceosome de type SF3B1, fortement associées aux syndromes myélodysplasiques avec sidéroblastes en couronne, renforce cette hypothèse.DIJON-BU Médecine Pharmacie (212312103) / SudocSudocFranceF

Amyl nitrite inhalation, a "volatile" anemia

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Clinical Features And Course Of Refractory Anemia With Ring Sideroblasts Associated With Marked Thrombocytosis

Background: Refractory anemia with ring sideroblasts associated with marked thrombocytosis was proposed as a provisional entity in the 2001 World Health Organization classification of myeloid neoplasms and also in the 2008 version, but its existence as a single entity is contested. We wish to define the clinical features of this rare myelodysplastic/myeloproliferative neoplasm and to compare its clinical outcome with that of refractory anemia with ring sideroblasts and essential thrombocythemia. Design and Methods: We conducted a collaborative retrospective study across Europe. Our database included 200 patients diagnosed with refractory anemia with ring sideroblasts and marked thrombocytosis. For each of these patients, each patient diagnosed with refractory anemia with ring sideroblasts was matched for age and sex. At the same time, a cohort of 454 patients with essential thrombocythemia was used to compare outcomes of the two diseases. Results: In patients with refractory anemia with ring sideroblasts and marked thrombocytosis, depending on the Janus Kinase 2 V617F mutational status (positive or negative) or platelet threshold (over or below 600x10(9)/L), no difference in survival was noted. However, these patients had shorter overall survival and leukemia-free survival with a lower risk of thrombotic complications than did patients with essential thrombocythemia (P<0.001) but better survival (P<0.001) and a higher risk of thrombosis (P=0.039) than patients with refractory anemia with ring sideroblasts. Conclusions: The clinical course of refractory anemia with ring sideroblasts and marked thrombocytosis is better than that of refractory anemia with ring sideroblasts and worse than that of essential thrombocythemia. The higher risk of thrombotic events in this disorder suggests that anti-platelet therapy might be considered in this subset of patients. From a clinical point of view, it appears to be important to consider refractory anemia with ring sideroblasts and marked thrombocytosis as a distinct entity

Clinical Features And Course Of Refractory Anemia With Ring Sideroblasts Associated With Marked Thrombocytosis

Background: Refractory anemia with ring sideroblasts associated with marked thrombocytosis was proposed as a provisional entity in the 2001 World Health Organization classification of myeloid neoplasms and also in the 2008 version, but its existence as a single entity is contested. We wish to define the clinical features of this rare myelodysplastic/myeloproliferative neoplasm and to compare its clinical outcome with that of refractory anemia with ring sideroblasts and essential thrombocythemia. Design and Methods: We conducted a collaborative retrospective study across Europe. Our database included 200 patients diagnosed with refractory anemia with ring sideroblasts and marked thrombocytosis. For each of these patients, each patient diagnosed with refractory anemia with ring sideroblasts was matched for age and sex. At the same time, a cohort of 454 patients with essential thrombocythemia was used to compare outcomes of the two diseases. Results: In patients with refractory anemia with ring sideroblasts and marked thrombocytosis, depending on the Janus Kinase 2 V617F mutational status (positive or negative) or platelet threshold (over or below 600x10(9)/L), no difference in survival was noted. However, these patients had shorter overall survival and leukemia-free survival with a lower risk of thrombotic complications than did patients with essential thrombocythemia (P<0.001) but better survival (P<0.001) and a higher risk of thrombosis (P=0.039) than patients with refractory anemia with ring sideroblasts. Conclusions: The clinical course of refractory anemia with ring sideroblasts and marked thrombocytosis is better than that of refractory anemia with ring sideroblasts and worse than that of essential thrombocythemia. The higher risk of thrombotic events in this disorder suggests that anti-platelet therapy might be considered in this subset of patients. From a clinical point of view, it appears to be important to consider refractory anemia with ring sideroblasts and marked thrombocytosis as a distinct entity

Clinical and biological characteristics of leukemia cutis in chronic lymphocytic leukemia: A study of the French innovative leukemia organization ( FILO )

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Clinical and biological characteristics of leukemia cutis in chronic lymphocytic leukemia: A study of the French innovative leukemia organization ( FILO )

International audienceNo abstract availabl

Clinical and biological characteristics of leukemia cutis in chronic lymphocytic leukemia: A study of the French innovative leukemia organization ( FILO )

International audienceNo abstract availabl

Clinical and biological characteristics of leukemia cutis in chronic lymphocytic leukemia: A study of the French innovative leukemia organization ( FILO )

International audienc