In:
International Journal of Laboratory Hematology, Wiley, Vol. 41, No. 3 ( 2019-06), p. 345-352
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 × 10 9 /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.
Type of Medium:
Online Resource
ISSN:
1751-5521
,
1751-553X
DOI:
10.1111/ijlh.2019.41.issue-3
Language:
English
Publisher:
Wiley
Publication Date:
2019
detail.hit.zdb_id:
2268600-9