Blood Res.  2022 Sep;57(3):239-241. 10.5045/br.2022.2022105.

Low-level somatic JAK2 V617F mutation in myelodysplastic/ myeloproliferative neoplasm with ring sideroblasts, and thrombocytosis with co-mutated SF3B1 and CALR

Affiliations
  • 1Division of Hemato-Oncology, Department of Internal Medicine, Soonchunhyang University College of Medicine, Bucheon, Korea
  • 2Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea


Figure

  • Fig. 1 Hematological and molecular characteristics of the present MDS/MPN-RS-T patient with triple SF3B1, CALR, and JAK2 driver mutations. (A) Wright–Giemsa stain (×400) of bone marrow aspirate showing dyserythropoiesis with multinuclearity and megaloblastoid changes (arrows). (B) Iron stain (×1,000) showing ring sideroblasts (arrows). (C) Wright–Giemsa stain (×200) showing increased cellularity and proliferation of large pleomorphic megakaryocytes. (D–F) Integrative Genomics Viewer snapshot of SF3B1 missense mutation (NC_000002.11:g.198267483C>T, R625H) (D), CALR frameshift mutation (NC_000019.9:g.13054590del, D373TfsTer57) (E), and JAK2 missense mutation (NC_000009.11: g.5073770G>T, V617F) (F) identified by next-generation sequencing (arrowheads).


Reference

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