Literature DB >> 22532522

Clinical features and course of refractory anemia with ring sideroblasts associated with marked thrombocytosis.

Julien Broseus1, Lourdes Florensa, Esther Zipperer, Susanne Schnittger, Luca Malcovati, Steven Richebourg, Eric Lippert, Jaroslav Cermak, Jyoti Evans, Morgane Mounier, José Maria Raya, François Bailly, Norbert Gattermann, Torsten Haferlach, Richard Garand, Kaoutar Allou, Carlos Besses, Ulrich Germing, Claudia Haferlach, Erica Travaglino, Elisa Luno, Maria Angeles Pinan, Leonor Arenillas, Maria Rozman, Maria Luz Perez Sirvent, Bernardine Favre, Julien Guy, Esther Alonso, Nuhri Ahwij, Andrés Jerez, Sylvie Hermouet, Marc Maynadié, Mario Cazzola, François Girodon.   

Abstract

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 600 × 10(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.

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Year:  2012        PMID: 22532522      PMCID: PMC3396675          DOI: 10.3324/haematol.2011.053918

Source DB:  PubMed          Journal:  Haematologica        ISSN: 0390-6078            Impact factor:   9.941


  22 in total

1.  Occurrence of the JAK2 V617F mutation in the WHO provisional entity: myelodysplastic/myeloproliferative disease, unclassifiable-refractory anemia with ringed sideroblasts associated with marked thrombocytosis.

Authors:  Angel F Remacha; Josep F Nomdedéu; Guiomar Puget; Camino Estivill; M Pilar Sarda; Carme Canals; Anna Aventin
Journal:  Haematologica       Date:  2006-05       Impact factor: 9.941

2.  The JAK2-V617F mutation and essential thrombocythemia features in a subset of patients with refractory anemia with ring sideroblasts (RARS).

Authors:  Marjorie Boissinot; Richard Garand; Mohamed Hamidou; Sylvie Hermouet
Journal:  Blood       Date:  2006-09-01       Impact factor: 22.113

3.  Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study.

Authors:  Peter J Campbell; Linda M Scott; Georgina Buck; Keith Wheatley; Clare L East; Joanne T Marsden; Audrey Duffy; Elaine M Boyd; Anthony J Bench; Mike A Scott; George S Vassiliou; Donald W Milligan; Steve R Smith; Wendy N Erber; David Bareford; Bridget S Wilkins; John T Reilly; Claire N Harrison; Anthony R Green
Journal:  Lancet       Date:  2005-12-03       Impact factor: 79.321

4.  Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis.

Authors:  Johanna Flach; Frank Dicker; Susanne Schnittger; Alexander Kohlmann; Torsten Haferlach; Claudia Haferlach
Journal:  Haematologica       Date:  2009-11-10       Impact factor: 9.941

5.  Prognostic factors and life expectancy in myelodysplastic syndromes classified according to WHO criteria: a basis for clinical decision making.

Authors:  Luca Malcovati; Matteo Giovanni Della Porta; Cristiana Pascutto; Rosangela Invernizzi; Marina Boni; Erica Travaglino; Francesco Passamonti; Luca Arcaini; Margherita Maffioli; Paolo Bernasconi; Mario Lazzarino; Mario Cazzola
Journal:  J Clin Oncol       Date:  2005-09-26       Impact factor: 44.544

6.  Ringed sideroblasts with thrombocytosis: an uncommon mixed myelodysplastic/myeloproliferative disease of older adults.

Authors:  Gene R Shaw
Journal:  Br J Haematol       Date:  2005-10       Impact factor: 6.998

7.  Efficacy of single-agent lenalidomide in patients with JAK2 (V617F) mutated refractory anemia with ring sideroblasts and thrombocytosis.

Authors:  Gerwin Huls; André B Mulder; Stefano Rosati; Arjan A van de Loosdrecht; Edo Vellenga; Joost T M de Wolf
Journal:  Blood       Date:  2010-03-01       Impact factor: 22.113

Review 8.  The role of JAK2 mutations in RARS and other MDS.

Authors:  Eva Hellström-Lindberg; Mario Cazzola
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2008

9.  Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis.

Authors:  Luca Malcovati; Matteo G Della Porta; Daniela Pietra; Emanuela Boveri; Andrea Pellagatti; Anna Gallì; Erica Travaglino; Angela Brisci; Elisa Rumi; Francesco Passamonti; Rosangela Invernizzi; Laura Cremonesi; Jacqueline Boultwood; James S Wainscoat; Eva Hellström-Lindberg; Mario Cazzola
Journal:  Blood       Date:  2009-08-19       Impact factor: 22.113

Review 10.  Is refractory anaemia with ring sideroblasts and thrombocytosis (RARS-T) a necessary or useful diagnostic category?

Authors:  Douglas Wardrop; David P Steensma
Journal:  Br J Haematol       Date:  2008-12-11       Impact factor: 6.998

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  26 in total

1.  Somatic mutations of calreticulin in myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms.

Authors:  Luca Malcovati; Elisa Rumi; Mario Cazzola
Journal:  Haematologica       Date:  2014-11       Impact factor: 9.941

2.  High frequencies of SF3B1 and JAK2 mutations in refractory anemia with ring sideroblasts associated with marked thrombocytosis strengthen the assignment to the category of myelodysplastic/myeloproliferative neoplasms.

Authors:  Sabine Jeromin; Torsten Haferlach; Vera Grossmann; Tamara Alpermann; Andreas Kowarsch; Claudia Haferlach; Wolfgang Kern; Susanne Schnittger
Journal:  Haematologica       Date:  2012-08-28       Impact factor: 9.941

3.  Low rate of calreticulin mutations in refractory anaemia with ring sideroblasts and marked thrombocytosis.

Authors:  J Broséus; E Lippert; A S Harutyunyan; S Jeromin; E Zipperer; L Florensa; J D Milosevic; T Haferlach; U Germing; E Luño; S Schnittger; R Kralovics; F Girodon
Journal:  Leukemia       Date:  2014-01-30       Impact factor: 11.528

4.  Vascular events and risk factors for thrombosis in refractory anemia with ring sideroblasts and thrombocytosis.

Authors:  M M Patnaik; T L Lasho; C M Finke; C A Hanson; R L King; R P Ketterling; N Gangat; A Tefferi
Journal:  Leukemia       Date:  2016-08-01       Impact factor: 11.528

Review 5.  Biologic and clinical significance of somatic mutations of SF3B1 in myeloid and lymphoid neoplasms.

Authors:  Mario Cazzola; Marianna Rossi; Luca Malcovati
Journal:  Blood       Date:  2012-11-16       Impact factor: 22.113

6.  Molecular landscape and clonal architecture of adult myelodysplastic/myeloproliferative neoplasms.

Authors:  Laura Palomo; Manja Meggendorfer; Stephan Hutter; Sven Twardziok; Vera Ademà; Irene Fuhrmann; Francisco Fuster-Tormo; Blanca Xicoy; Lurdes Zamora; Pamela Acha; Cassandra M Kerr; Wolfgang Kern; Jaroslaw P Maciejewski; Francesc Solé; Claudia Haferlach; Torsten Haferlach
Journal:  Blood       Date:  2020-10-15       Impact factor: 22.113

Review 7.  Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis: "2019 Update on Diagnosis, Risk-stratification, and Management".

Authors:  Mrinal M Patnaik; Ayalew Tefferi
Journal:  Am J Hematol       Date:  2019-01-24       Impact factor: 10.047

Review 8.  Splicing factor mutations in MDS RARS and MDS/MPN-RS-T.

Authors:  Akihide Yoshimi; Omar Abdel-Wahab
Journal:  Int J Hematol       Date:  2017-05-02       Impact factor: 2.490

Review 9.  An Exercise in Extrapolation: Clinical Management of Atypical CML, MDS/MPN-Unclassifiable, and MDS/MPN-RS-T.

Authors:  Chetasi Talati; Eric Padron
Journal:  Curr Hematol Malig Rep       Date:  2016-12       Impact factor: 3.952

10.  Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia.

Authors:  Luca Malcovati; Elli Papaemmanuil; Ilaria Ambaglio; Chiara Elena; Anna Gallì; Matteo G Della Porta; Erica Travaglino; Daniela Pietra; Cristiana Pascutto; Marta Ubezio; Elisa Bono; Matteo C Da Vià; Angela Brisci; Francesca Bruno; Laura Cremonesi; Maurizio Ferrari; Emanuela Boveri; Rosangela Invernizzi; Peter J Campbell; Mario Cazzola
Journal:  Blood       Date:  2014-06-26       Impact factor: 22.113

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