Vol 55, No 5 (2024)
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Published online: 2024-10-31

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Myeloid/lymphoid neoplasm with eosinophilia and FIP1L1::PDGFRA presenting as chronic myeloproliferative neoplasm in the myeloid blast phase: a case report and a review of the literature

Dorota Stankevič1, Agnieszka Końska1, Kinga Kos-Zakrzewska1, Iwona Solarska2, Bożena Katarzyna Budziszewska12, Monika Prochorec-Sobieszek3, Ewa Lech-Marańda1, Bartosz Puła1
DOI: 10.5603/ahp.101211
Acta Haematol Pol 2024;55(5):276-281.

Abstract

The authors present the case of a 39-year-old male with an initial diagnosis of de novo acute myeloid leukemia who,
despite complete remission without measurable residual disease after conventional induction chemotherapy, presented
with persistent splenomegaly and eosinophilia. As reactive eosinophilia was excluded and CBFB::MYH11 and
RUNX1::RUNX1T1 gene fusions were not identified in additional molecular studies, we decided to test for other causes
of clonal eosinophilia. Cytogenetic and molecular testing identified FIP1L1::PDGFRA gene fusion and prompted the
introduction of imatinib. The initial diagnosis of de novo acute myeloid leukemia was changed to myeloid/lymphoid
neoplasm with eosinophilia and FIP1L1::PDGFRA in the blast phase as myeloid blast count in the bone marrow at
the diagnosis was >20%. The patient has maintained a complete molecular response with imatinib at a dose of
100 mg for more than two years.

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References

  1. Khoury JD, Solary E, Abla O, et al. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms. Leukemia. 2022; 36(7): 1703–1719.
  2. Shomali W, Gotlib J. World Health Organization-defined eosinophilic disorders: 2022 update on diagnosis, risk stratification, and management. Am J Hematol. 2022; 97(1): 129–148.
  3. Reiter A, Gotlib J. Myeloid neoplasms with eosinophilia. Blood. 2017; 129(6): 704–714.
  4. Metzgeroth G, Schwaab J, Gosenca D, et al. Long-term follow-up of treatment with imatinib in eosinophilia-associated myeloid/lymphoid neoplasms with PDGFR rearrangements in blast phase. Leukemia. 2013; 27(11): 2254–2256.
  5. Morales-Camacho RM, Caballero-Velázquez T, Borrero JJ, et al. Hematological Neoplasms with Eosinophilia. Cancers (Basel). 2024; 16(2).
  6. Naymagon L, Marcellino B, Mascarenhas J. Eosinophilia in acute myeloid leukemia: Overlooked and underexamined. Blood Rev. 2019; 36: 23–31.
  7. Papadakis S, Liapis I, Papadhimitriou SI, et al. Approach to Acute Myeloid Leukemia with Increased Eosinophils and Basophils. J Clin Med. 2024; 13(3).
  8. Sorour Y, Dalley CD, Snowden JA, et al. Acute myeloid leukaemia with associated eosinophilia: justification for FIP1L1-PDGFRA screening in cases lacking the CBFB-MYH11 fusion gene. Br J Haematol. 2009; 146(2): 225–227.
  9. Thomsen GN, Christoffersen MN, Lindegaard HM, et al. The multidisciplinary approach to eosinophilia. Front Oncol. 2023; 13: 1193730.
  10. Saft L, Kvasnicka HM, Boudova L, et al. Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase fusion genes: A workshop report with focus on novel entities and a literature review including paediatric cases. Histopathology. 2023; 83(6): 829–849.
  11. Baer C, Muehlbacher V, Kern W, et al. Molecular genetic characterization of myeloid/lymphoid neoplasms associated with eosinophilia and rearrangement of or . Haematologica. 2018; 103(8): e348–e350.
  12. Pardanani A, Lasho T, Barraco D, et al. Next generation sequencing of myeloid neoplasms with eosinophilia harboring the FIP1L1-PDGFRA mutation. Am J Hematol. 2016; 91(3): E10–E11.
  13. von Bubnoff N, Sandherr M, Schlimok G, et al. Myeloid blast crisis evolving during imatinib treatment of an FIP1L1-PDGFR alpha-positive chronic myeloproliferative disease with prominent eosinophilia. Leukemia. 2005; 19(2): 286–287.
  14. Pardanani A, Ketterling RP, Brockman SR, et al. CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy. Blood. 2003; 102(9): 3093–3096.
  15. Hemsing AL, Hovland R, Tsykunova G, et al. Trisomy 8 in acute myeloid leukemia. Expert Rev Hematol. 2019; 12(11): 947–958.
  16. Metzgeroth G, Erben P, Martin H, et al. Limited clinical activity of nilotinib and sorafenib in FIP1L1-PDGFRA positive chronic eosinophilic leukemia with imatinib-resistant T674I mutation. Leukemia. 2012; 26(1): 162–164.