학술논문
Revisiting diagnostic criteria for myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis: Borderline cases without anemia exist.
Document Type
Article
Author
Source
Subject
*ANEMIA diagnosis
*BLOOD testing
*THROMBOCYTOSIS
*MYELOPROLIFERATIVE neoplasms
*ERYTHROCYTES
*GENETIC mutation
*HEMATOLOGIC malignancies
*SEQUENCE analysis
*DIAGNOSIS
BONE marrow examination
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Language
ISSN
1751-5521
Abstract
Introduction: 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. Methods: We searched for borderline cases of MDS/MPN‐RS‐T in which refractory anemia was absent at diagnosis in two major academic institutes. Results: 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. Conclusion: 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 disorder. [ABSTRACT FROM AUTHOR]