title: Refractory anemia with ringed sideroblasts and thrombocytosis without JAK2 V617F mutation: report of three cases.
abstract: In the WHO classification, there is a provisional entity called Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable (MDS/MPN, U). Refractory anemia with ringed sideroblasts associated with marked thrombocytosis (RARS-T) was included in this category. Recently published studies report a small percentage of patients with RARS-T. Sixty percent of these have JAK2 V617F mutation, which can suggest the coexistence of two pathological conditions (MDS and MPN). In this paper, we analyzed three patients diagnosed with RARS-T in the Department of Hematology, "Fundeni" Clinical Institute, Bucharest, Romania, during the period 2005-2011. The patients were investigated with cytogenetic exam and molecular biology. In these three cases were identified morphological features of multilineage dysplasia (two-lineage dysplasia in two cases and three-lineage dysplasia in one case). In two cases, thrombocytosis was under 1000×10(3)/μL and clinical evolution was similar to the myelodysplastic syndrome (transfusion dependent anemia with response to administration of erythropoietin). In the third case, the platelets were over 1000×10(3)/μL and with response to the treatment with Hydrea, which improved anemia. JAK2 V617F mutation was not identified in any case. RARS-T remains a provisional entity and requires a complex investigation of patients for the correct diagnosis of these patients. Therapeutic options should be personalized to each case in part because there is not yet a standardized treatment of these patients.
authors.affiliation: Center of Hematology and Bone Marrow Transplantation, "Fundeni" Clinical Institute, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania; auratatic@yahoo.com.
authors.forename: Aurelia
authors.initials: A
authors.lastname: Tatic
authors.forename: Mariana
authors.initials: M
authors.lastname: Vasilică
authors.forename: Adriana
authors.initials: A
authors.lastname: Coliţă
authors.forename: Didona
authors.initials: D
authors.lastname: Vasilache
authors.forename: Camelia
authors.initials: C
authors.lastname: Dobrea
authors.forename: Cerasela
authors.initials: C
authors.lastname: Jardan
authors.forename: Amelia Maria
authors.initials: AM
authors.lastname: Găman
authors.forename: Ana Manuela
authors.initials: AM
authors.lastname: Crişan
authors.forename: D
authors.initials: D
authors.lastname: Coliţă
authors.forename: D
authors.initials: D
authors.lastname: Coriu
mesh_terms: D000328:Adult; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D000753:Anemia, Refractory / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D000756:Anemia, Sideroblastic / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D001853:Bone Marrow / Q000473:pathology; D004920:Erythropoiesis; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D013922:Thrombocytosis / Q000150:complications* / Q000201:enzymology / Q000235:genetics*; D055815:Young Adult
chemical_list: C507924:JAK2 protein, human; D053614:Janus Kinase 2