Case of polycythemia vera concurrent with FIP1L1-PDGFRA–positive myeloproliferative neoplasm with eosinophilia

Published:September 03, 2012DOI:https://doi.org/10.1016/j.cancergen.2012.05.010
      We report an unusual case of a symptomatic patient who initially had high hemoglobin and low serum erythropoietin levels, fitting a clinical diagnosis of polycythemia vera. However, after treatment with hydroxyurea and serial phlebotomies had been started, the patient developed hypereosinophilia, fitting the category of a myeloproliferative neoplasm with eosinophilia associated with the FIP1L1-PDGFRA gene fusion, as confirmed by molecular analysis. We discuss the clinical presentation, evolution, response to treatment, and pathogenetic implications of this case.

      Keywords

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic and Personal

      Subscribe:

      Subscribe to Cancer Genetics
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Tefferi A.
        • Vardiman J.W.
        Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms.
        Leukemia. 2008; 22: 14-22
        • Cambier N.
        • Renneville A.
        • Cazaentre T.
        • et al.
        JAK2V617F-positive polycythemia vera and Philadelphia chromosome-positive chronic myeloid leukemia: one patient with two distinct myeloproliferative disorders.
        Leukemia. 2008; 22: 1454-1545
        • Hussein K.
        • Bock O.
        • Seegers A.
        • et al.
        Myelofibrosis evolving during imatinib treatment of a chronic myeloproliferative disease with coexisting BCR-ABL translocation and JAK2V617F mutation.
        Blood. 2007; 109: 4106-4107
        • Burbury K.
        • Chew L.P.
        • Westerman D.
        • et al.
        Concomitant FIP1L1-PDFGRA fusion gene and T cell clonality in a case of chronic eosinophilic leukemia with clonal evolution and and incomplete response to imatinib.
        Leuk Lymphoma. 2011; 52: 335-338
        • Helbig G.
        • Wieczorkiewicz A.
        • Dziaczkowska-Suszek J.
        • et al.
        T-cell abnormalities are present at high frequencies in patients with hypereosinophilic syndrome.
        Haematologica. 2009; 94: 1236-1241
        • Klion A.D.
        Eosinophilic myeloproliferative disorders.
        Hematology Am Soc Hematol Educ Program. 2011; 2011: 257-263
        • Varon D.
        • Wetzler M.
        • Berrebi A.
        Hypereosinophilic syndrome associated with polycythemia vera.
        Arch Intern Med. 1986; 146: 1440-1441
        • Schnittger S.
        • Bacher U.
        • Kern W.
        • et al.
        Report on two novel nucleotide exchanges in the JAK2 pseudokinase domain: D620E and E627E.
        Leukemia. 2006; 20: 2195-2197
        • Pardanani A.
        • Lasho T.L.
        • Finke C.
        • et al.
        Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera.
        Leukemia. 2007; 21: 1960-1963
        • Grünebach F.
        • Bross-Bach U.
        • Kanz L.
        • et al.
        Detection of a new JAK2 D620E mutation in addition to V617F in a patient with polycythemia vera.
        Leukemia. 2006; 20: 2210-2211
        • Jovanvic J.V.
        • Score J.
        • Waghorn K.
        • et al.
        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. 2007; 109: 4635-4640
        • Jones C.M.
        • Dickinson T.M.
        • Salvado A.
        Phase II open label trial of imatinib in polycythemia rubra vera.
        Int J Hematol. 2008; 88: 489-494
        • Nussenzveig R.H.
        • Cortes J.
        • Sever M.
        • et al.
        Imatinib mesylate therapy for polycythemia vera: final result of a phase II study initiated in 2001.
        Int J Hematol. 2009; 90: 58-63
        • Levine R.L.
        • Pardanani A.
        • Tefferi A.
        • et al.
        Role of JAK2 in the pathogenesis and therapy of myeloproliferative disorders.
        Nat Rev Cancer. 2007; 7: 673-683
        • Teofili L.
        • Martini M.
        • Cenci T.
        • et al.
        Different STAT-3 and STAT-5 phosphorylation discriminates among Ph-negative chronic myeloproliferative diseases and is independent of the V617F JAK-2 mutation.
        Blood. 2007; 110: 354-359
        • Li B.
        • Zhang G.S.
        • Dai C.W.
        • et al.
        The activation of JAK/STAT signal pathway in hypereosinophilic syndrome and the patients therapeutic response to imatinib [in Chinese].
        Zhonghua Yi Xue Za Zhi. 2005; 85: 448-452
        • Zhang G.S.
        • Li B.
        • Pei M.F.
        • et al.
        Identification of FIP1L1-PDGFRA fusion, and expression of signal transducer and activator of transcription 5 in hypereosinophilic syndrome [in Chinese].
        Zhonghua Yi Xue Za Zhi. 2004; 84: 1541-1544
        • Buitenhuis M.
        • Verhagen L.P.
        • Cools J.
        • et al.
        Molecular mechanisms underlying FIP1L1-PDGFRA–mediated myeloproliferation.
        Cancer Res. 2007; 67: 3759-3766
        • Lu X.
        • Levine R.
        • Tong W.
        • et al.
        Expression of a homodimeric type I cytokine receptor is required for JAK2V617F-mediated transformation.
        Proc Natl Acad Sci USA. 2005; 102: 18962-18967
        • Scott L.M.
        • Tong W.
        • Levine R.L.
        • et al.
        JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.
        N Engl J Med. 2007; 356: 459-468
        • Gaikwad A.
        • Verstovsek S.
        • Yoon D.
        • et al.
        Imatinib effect on growth and signal transduction in polycythemia vera.
        Exp Hematol. 2007; 35: 931-938
        • Kindler T.
        • Breitenbuecher F.
        • Kasper S.
        • et al.
        In BCR-ABL-positive cells, STAT-5 tyrosine-phosphorylation integrates signals induced by imatinib mesylate and Ara-C.
        Leukemia. 2003; 17: 999-1009