Myeloid Neoplasma with Eosinophilia (MLN-Eo) with Rearrangement of JAK2 D72.1, C47.5

Last updated on: 27.10.2021

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Definition
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Myeloid neoplasms with eosinophilia are a clinically, morphologically, genetically, and prognostically heterogeneous group of clonal diseases characterized as follows:

  • Initially, a persistent proliferation of clonal eosinophilic granulocytes in the peripheral blood.
  • a hypercellular bone marrow
  • if necessary, splenomegaly (Valent Pet al. 2012).

In morphology, the assessment of qualitative and quantitative changes in the non-eosinophil series (megakaryocytes, monocytes, mast cells, blasts) and bone marrow fibrosis is significant. By means of molecular genetic investigations, cytogenetic aberrations (e.g. reciprocal translocation, deletion, inversion, trisomy, complex karyotype), rearrangements of genes (FISH analysis), fusion genes (FISH analysis, RT-PCR) or mutations (allele-specific PCR, NGS) are included in the diagnosis. The causative genetic aberrations are characterized by a varying risk of progression to a myeloid or lymphoid blast phase (with a corresponding unfavorable prognosis).

Note: In myeloid neoplasia with eosinophilia (MLN-Eo) with rearrangement of JAK2, the reciprocal translocation t(8;9)(p22;p24) is usually associated with a PCM1-JAK2 fusion gene (Reiter A et al. (2005). Much rarer are the ETV6-JAK2 and BCR-JAK2 fusion genes.

Clinical features
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The clinical course is aggressive with primary blast phase or rapid progression to secondary blast phase.

Diagnostics
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The bone marrow morphology shows pathognomonic large paratrabecularly located clusters of predominantly immature proerythroblasts.

Literature
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  1. Cross NCP et al (2019) Recurrent activating STAT5B N642H mutation in myeloid neoplasms with eosinophilia. Leukemia 33:415-425.
  2. Jovanovic JV et al (2007) Low-dose imatinib mesylate leads to rapid induction of major molecular responses and achievement of complete molecular remission in FIP1L1-PDGFRA-positive chronic eosinophilic leukemia. Blood 109:4635-4640.
  3. Metzgeroth G et al. (2007) Recurrent finding of the FIP1L1-PDGFRA fusion gene in eosinophilia-associated acute myeloid leukemia and lymphoblastic T-cell lymphoma. Leukemia 21:1183-1188.
  4. Pardanani A et al. (2004) FIP1L1-PDGFRA fusion: prevalence and clinicopathologic correlates in 89 consecutive patients with moderate to severe eosinophilia. Blood 104:3038-3045.
  5. Patel AB et al. (2019) JAK2 ex13InDel drives oncogenic transformation and is associated with chronic eosinophilic leukemia and polycythemia vera. Blood 134:2388-2398.
  6. Reiter A et al (2005) The t(8;9)(p22;p24) is a recurrent abnormality in chronic and acute leukemia that fuses PCM1 to JAK2. Cancer Res 65:2662-2667.
  7. Reiter A et al (2017) Myeloid neoplasms with eosinophilia. Blood 129:704-714.
  8. Schwaab J et al (2015) KIT D816V and JAK2 V617F mutations are seen recurrently in hypereosinophilia of unknown significance. Am J Hematol 90:774-777.
  9. Swerdlow SH et al (2016) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. WHO press 4th edition.
  10. Valent Pet al. (2012) Contemporary consensus proposal on criteria and classification of eosinophilic disorders and related syndromes. J Allergy Clin Immunol130:607-612
  11. Wang SA et al (2016) Targeted next-generation sequencing identifies a subset of idiopathic hypereosinophilic syndrome with features similar to chronic eosinophilic leukemia, not otherwise specified. Mod Pathol 29:854-864.
  12. Zaliova M et al (2016) Characterization of leukemias with ETV6-ABL1 fusion. Haematologica 101:1082-1093.

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Last updated on: 27.10.2021