Treatment Of MDS/MPN-RS-T With Ruxolitinib:Case Report And Literature Review

Objective:To improve the understanding of the epidemiology,pathogenesis,clinical features,diagnosis,treatment and prognosis of myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis(MDS/MPN-RS-T).Methods:A retrospective analysis was performed on the clinical manifestations,laboratory tests,treatments and efficacy of a patient with MDS/MPN-RS-T treated with ruxolitinib in our hospital,review and discuss with relevant literature.The efficacy standard was based on the myelodysplastic/myeloproliferative neoplasms(MDS/MPN)efficacy standard(adult)published in Blood in 2015.Results:1.The patient was a 66-year-old female and had no prior history of MDS,MPN and other type of MDS/MPN,and had no history of cytotoxic or growth factor therapy.Her main clinical manifestations included dizziness and fatigue caused by anemia,hepatomegaly and splenomegaly.Laboratory tests showed moderate anemia,persistent thrombocytosis with platelet count≥450×10~9/L.Bone marrow cytology showed 17%ring sideroblasts,atypical megakaryocytes,and 2%blasts in the bone marrow.Bone marrow biopsy demonstrated reticulated fiber dyeing grade 3.Her molecular studies revealed mutations involving JAK2V617F and SF3B1.She was negative for BCR-ABL and PCM1-JAK2 fusion genes and no PDGFRA,PDGFRB,FGFR1 rearrangement.Cytogenetic analysis revealed a normal karyotype.Based on her medical history,clinical manifestations and laboratory tests,the patient was diagnosed with MDS/MPN-RS-T.2.After treatment with ruxolitinib,the patient had a greater than 50%reduction in palpable splenomegaly from baseline.The patient added recombinant human erythropoietin because of anemia aggravated,and the symptoms of anemia improved after treatment with erythropoietin.According to the MDS/MPN efficacy standard(adult),the patient achieved clinical benefit after treatment with ruxolitinib in combination with recombinant human erythropoietin.Conclusions:1.If patients of anemia with ring sideroblasts and thrombocytosis,diagnosis as MDS/MPN-RS-T need to be identified,and comprehensive chromosome and molecular biology tests help clear diagnosis.2.MDS/MPN-RS-T currently lacks a unified treatment plan,and it’s management strategies are extrapolated from MDS and MPN.For patients with MDS/MPN-RS-T with JAK2 V617F mutation and giant spleen may be benefit from ruxolitinib.Ruxolitinib may reduce splenomegaly and improve the patient’s quality of life,but it’s hematological adverse reactions should be noted.