Myeloid Neoplasma with Eosinophilia (MLN-Eo) with Rearrangement of PDGFRB 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 into a myeloid or lymphoid blast phase (with a correspondingly unfavorable prognosis).

Occurrence/Epidemiology
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Clinical features
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Peripheral eosinophilia may be absent in up to 20% of patients. Since monocytosis >1000/µl is present in peripheral blood in about 30% of patients, CMML, atypical CML or JMML may be diagnosed. Splenomegaly is common, whereas other organs are affected less frequently than in FIP1L1-PDGFRA. Bone marrow findings are comparable to those in FIP1L1-PDGFRA fusion gene (hypercellular, proliferation of mast cells, concurrent diagnosis of MPN in bone marrow with lymphoma in lymph node biopsy).

Diagnostics
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Diagnosis is made by detection of rearrangement of PDGFRB by FISH analysis and (subsequent) detection of the fusion gene by RT-PCR/FISH analysis;

Note: Rearrangement of chromosome band 5q31-33 leads to fusion of PDGFRB tyrosine kinase with more than 30 different fusion partners. The most common fusion genes are ETV6-PDGFRB and CDCC88C-PDGFRB (Reiter A et al. 2017).

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