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CC BY-NC-ND 4.0 · Indian J Med Paediatr Oncol 2020; 41(05): 752-755
DOI: 10.4103/ijmpo.ijmpo_259_20
Case Report and Review of Literature

A Report of an Unusual Case of Pediatric Eosinophilia Associated with Platelet-Derived Growth Factor Receptor-Beta Rearrangement

Abdul Moothedath
1   Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
,
Debasish Sahoo
1   Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
,
Rachna Seth
2   Department of Pediatrics, Division of Pediatric Oncology, All India Institute of Medical Sciences, New Delhi, India
,
Jagdish Meena
1   Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
,
Aditya Gupta
1   Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
› Author Affiliations Financial support and sponsorship Nil.
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Abstract

Eosinophilia is a common finding in the pediatric age group. While the majority of mild eosinophilia cases are benign and due to reactive causes, persistent hypereosinophilia is uncommon and requires prompt clinical evaluation because of the potential risk of end-organ damage associated with it. Given the broad differential diagnoses of eosinophilia, it is essential to have a systematic approach to the evaluation of unexplained eosinophilia in children. Here, we discuss the case of a 2-year-old child who presented with very high eosinophil counts. A systematic workup of the case helped us in arriving at a rare diagnosis of platelet-derived growth factor receptor-beta (PDGFRB)-rearranged clonal eosinophilia. Identification of such an entity is important as it has therapeutic implications, and early recognition helps in preventing associated end-organ damage by instituting appropriate therapy. Such cases of eosinophilia associated with platelet-derived growth factor receptor-alpha and PDGFRB rearrangement respond dramatically to imatinib.

Keywords

Children - eosinophilia - hypereosinophilia - imatinib - platelet-derived growth factor receptor-beta


Publication History

Received: 26 May 2020

Accepted: 20 August 2020

Article published online:
17 May 2021

© 2020. Indian Society of Medical and Paediatric Oncology. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/.)

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  • References

  • 1 Valent P, Klion AD, Horny HP, Roufosse F, Gotlib J, Weller PF. et al. Contemporary consensus proposal on criteria and classification of eosinophilic disorders and related syndromes. J Allergy Clin Immunol 2012; 130: 607-12, e609
    CrossrefPubMedGoogle Scholar
  • 2 Klion AD. How I treat hypereosinophilic syndromes. Blood 2015; 126: 1069-77
    CrossrefPubMedGoogle Scholar
  • 3 Akuthota P, Weller PF. Spectrum of eosinophilic end-organ manifestation. Immunol Allergy Clin North Am 2015; 35: 403-11
    CrossrefPubMedGoogle Scholar
  • 4 Reiter A, Gotlib J. Myeloid neoplasms with eosinophilia. Blood 2017; 129: 6
    CrossrefPubMedGoogle Scholar
  • 5 Williams KW, Ware J, Abiodun A, Holland-Thomas NC, Khoury P, Klion AD. Hypereosinophilia in children and adults: A retrospective comparison. J Allergy Clin Immunol Pract 2016; 4: 941-70
    CrossrefPubMedGoogle Scholar
  • 6 Pardanani A, Brockman SR, Paternoster SF, Flynn HC, Ketterling RP, Lasho TL. et al. FIP1 L1-PDGFRA fusion: Prevalence and clinicopathologic correlates in 89 consecutive patients with moderate to severe eosinophilia. Blood 2004; 104: 3038-45
    CrossrefPubMedGoogle Scholar
  • 7 Pardanani A, Ketterling RP, Brockman SR, Flynn HC, Paternoster SF, Shearer BM. et al. CHIC2 deletion, a surrogate for FIP1 L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy. Blood Blood 2003; 102: 3093-6
    CrossrefPubMedGoogle Scholar
  • 8 Vega F, Medeiros LJ, Bueso-Ramos CE, Arboleda P, Miranda RN. Hematolymphoid neoplasms associated with rearrangements of PDGFRA, PDGFRB, and FGFR1. Am J Clin Pathol 2015; 144: 377-92
    CrossrefPubMedGoogle Scholar
  • 9 Darbyshire PJ, Shortland D, Swansbury GJ, Sadler J, Lawler SD, Chessells JM. A myeloproliferative disease in two infants associated with eosinophilia and chromosome t(1;5) translocation. Br J Haematol 1987; 66: 483-6
    CrossrefPubMedGoogle Scholar
  • 10 Pellier I, Le Moine PJ, Rialland X, François S, Baranger L, Blanchet O. et al. Myelodysplastic syndrome with t(5;12)(q31;p12-p13) and eosinophilia: A pediatric case with review of literature. J Pediatr Hematol Oncol 1996; 18: 285-8
    CrossrefPubMedGoogle Scholar
  • 11 Jani K, Kempski HM, Reeves BR. A case of myelodysplasia with eosinophilia having a translocation t(5;12) (q31;q13) restricted to myeloid cells but not involving eosinophils. Br J Haematol 1994; 87: 57-60
    CrossrefPubMedGoogle Scholar
  • 12 Wilkinson K, Velloso ER, Lopes LF, Lee C, Aster JC, Shipp MA. et al. Cloning of the t(1;5)(q23;q33) in a myeloproliferative disorder associated with eosinophilia: Involvement of PDGFRB and response to imatinib. Blood 2003; 102: 4187-90
    CrossrefPubMedGoogle Scholar
  • 13 Wittman B, Horan J, Baxter J, Goldberg J, Felgar R, Baylor E. A 2-year-old with atypical CML with a t(5;12)(q33;p13) treated successfully with imatinib mesylate. Leuk Res 2004; 28: S65-9 et al. suppl 1
    CrossrefPubMedGoogle Scholar
  • 14 Bastie JN, Garcia I, Terré C, Cross NC, Mahon FX, Castaigne S. Lack of response to imatinib mesylate in a patient with accelerated phase myeloproliferative disorder with rearrangement of the platelet-derived growth factor receptor beta-gene. Haematologica 2004; 89: 1263-4
    PubMedGoogle Scholar
  • 15 Cheah CY, Burbury K, Apperley JF, Huguet F, Pitini V, Gardembas M. et al. Patients with myeloid malignancies bearing PDGFRB fusion genes achieve durable long-term remissions with imatinib. Blood 2014; 123: 3574-7
    CrossrefPubMedGoogle Scholar
  • 16 Schwaab J, Knut M, Haferlach C, Metzgeroth G, Horny HP, Chase A. et al. Limited duration of complete remission on ruxolitinib in myeloid neoplasms with PCM1-JAK2 and BCR-JAK2 fusion genes. Ann Hematol 2015; 94: 233-8
    CrossrefPubMedGoogle Scholar