Revisiting diagnostic criteria for myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis: Borderline cases without anemia exist

International Journal of Laboratory Hematology
Peng LiRobert S Ohgami

Abstract

Myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T) is a rare disease in the 2016 revised World Health Organization (WHO) classification. Diagnostic criteria include the following: persistent thrombocytosis (>450 × 109 /L) with clustering of atypical megakaryocytes, refractory anemia, dyserythropoiesis with ring sideroblasts, and the presence of the spliceosome factor 3b subunit (SF3B1) mutation. It is unclear if anemia should be a required criterion for this diagnosis as cases which show all other features of MDS/MPN-RS-T but without anemia exist. We searched for borderline cases of MDS/MPN-RS-T in which refractory anemia was absent at diagnosis in two major academic institutes. Three cases without anemia were identified. These cases all showed other classic morphologic and clinical features of MDS/MPN-RS-T, including thrombocytosis, atypical megakaryocytes with clustering, and characteristic SF3B1 and JAK2 V617F mutations. Given these findings, the requirement of refractory anemia as a diagnostic criterion for MDS/MPN-RS-T should be re-evaluated. Removal of refractory anemia as a diagnostic criterion would incorporate current borderline cases and extend the spectrum of this dis...Continue Reading

References

Oct 15, 2011·The New England Journal of Medicine·E PapaemmanuilUNKNOWN Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium
Oct 15, 2011·Blood·Luca MalcovatiUNKNOWN Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium and of the Associazione Italiana per l
Jan 19, 2013·Oncotarget·Virginie ChesnaisMichaela Fontenay
Sep 14, 2013·Blood·Elli PapaemmanuilUNKNOWN Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium
Dec 12, 2013·The New England Journal of Medicine·Thorsten KlampflRobert Kralovics
Dec 12, 2013·The New England Journal of Medicine·J NangaliaA R Green
Apr 23, 2015·American Journal of Hematology·Mrinal M Patnaik, Ayalew Tefferi
Dec 17, 2016·Asia-Pacific Journal of Oncology Nursing·Anne Arber

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