Hypereosinophilic syndrome and clonal eosinophilia: Point-of-care diagnostic algorithm and treatment update

Mayo Clinic Proceedings

Volumn 85, Issue 2, 2010, Pages 158-164

  Tefferi, Ayalew ^a   Gotlib, Jason ^b   Pardanani, Animesh ^a  

^a MAYO CLINIC   (United States)

^b STANFORD CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALEMTUZUMAB; ALPHA INTERFERON; CLADRIBINE; CYCLOPHOSPHAMIDE; CYCLOSPORIN; DEXAMETHASONE; DOXORUBICIN; FIBROBLAST GROWTH FACTOR RECEPTOR 1; HYDROXYUREA; IMATINIB; MEPOLIZUMAB; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; PLATELET DERIVED GROWTH FACTOR BETA RECEPTOR; PREDNISONE; VINCRISTINE;

ALGORITHM; CHROMOSOME ANALYSIS; CHRONIC MYELOID LEUKEMIA; CHRONIC MYELOMONOCYTIC LEUKEMIA; CLINICAL ASSESSMENT; CLINICAL FEATURE; CLONAL EOSINOPHILIA; CORTICOSTEROID THERAPY; DIAGNOSTIC ACCURACY; DIAGNOSTIC APPROACH ROUTE; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DRUG TREATMENT FAILURE; EOSINOPHIL COUNT; EOSINOPHILIA; EOSINOPHILIC LEUKEMIA; FETUS DISEASE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HYPEREOSINOPHILIC SYNDROME; HYPOSPADIAS; IDIOPATHIC DISEASE; KIDNEY AGENESIS; LYMPHOMA; MYELODYSPLASTIC SYNDROME; OLIGOSPERMIA; PARASITOSIS; PHENOTYPE; POINT OF CARE TESTING; REVIEW; SYSTEMIC MASTOCYTOSIS; UMBILICAL HERNIA; VASCULITIS; WORLD HEALTH ORGANIZATION;

EID: 75749119699     PISSN: 00256196     EISSN: None     Source Type: Journal    
DOI: 10.4065/mcp.2009.0503     Document Type: Review

References (77)

1. Tefferi A, Patnaik MM, Pardanani A. Eosinophilia: secondary, clonal and idiopathic. Br J Haematol. 2006;133(5):468-492.
2. Meltzer E, Percik R, Shatzkes J, Sidi Y, Schwartz E. Eosinophilia among returning travelers: a practical approach. Am J Trop Med Hyg. 2008;78(5):702-709.
3. Ganeva M, Gancheva T, Lazarova R, et al. Carbamazepine-induced drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome: report of four cases and brief review. Int J Dermatol. 2008;47(8):853-860.
4. Campos LE, Pereira LF. Pulmonary eosinophilia. J Bras Pneumol. 2009;35(6):561-573.
5. Méndez-Sánchez N, Chávez-Tapia NC, Vazquez-Elizondo G, Uribe M. Eosinophilic gastroenteritis: a review. Dig Dis Sci. 2007 Nov;52(11):2904-2911. Epub 2007 Apr 11.
6. Swoger JM, Weiler CR, Arora AS. Eosinophilic esophagitis: is it all allergies? Mayo Clin Proc. 2007;82(12):1541-1549.
7. Seybolt LM, Christiansen D, Barnett ED. Diagnostic evaluation of newly arrived asymptomatic refugees with eosinophilia. Clin Infect Dis. 2006;42(3):363-367. Epub 2005 Dec 28.
8. Lassmann B, Tsigrelis C, Virk A. 33-year-old woman with marked eosinophilia. Mayo Clin Proc. 2007;82(1):103-106.
9. Tefferi A, Vardiman JW. Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia. 2008;22(1):14-22. Epub 2007 Sep 20.
10. Chang HW, Leong KH, Koh DR, Lee SH. Clonality of isolated eosinophils in the hypereosinophilic syndrome. Blood. 1999;93:1651-1657.
11. Malcovati L, La Starza R, Merante S, Pietra D, Mecucci C, Cazzola M. Hypereosinophilic syndrome and cyclic oscillations in blood cell counts: a clonal disorder of hematopoiesis originating in a pluripotent stem cell. Haematologica. 2004;89(4):497-499.
12. Brown NJ, Stein RS. Idiopathic hypereosinophilic syndrome progressing to acute myelomonocytic leukemia with chloromas. South Med J. 1989;82(10):1303-1305.
13. Owen J, Scott JG. Transition of the hypereosinophilic syndrome to myelomonocytic leukemia. Can Med Assoc J. 1979;121(11):1489-1491.
14. Yoo TJ, Orman SV, Patil SR, et al. Evolution to eosinophilic leukemia with a t(5:11) translocation in a patient with idiopathic hypereosinophilic syndrome. Cancer Genet Cytogenet. 1984;11(4):389-394.
15. Needleman SW, Mane SM, Gutheil JC, Kapil V, Heyman MR, Testa JR. Hypereosinophilic syndrome with evolution to myeloproliferative disorder: temporal relationship to loss of Y chromosome and c-N-ras activation. Hematol Pathol. 1990;4(3):149-155.
16. Cools J, DeAngelo DJ, Gotlib J, et al. A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med. 2003;348(13):1201- 1214.
17. Vardiman JW, Thiele J, Arber DA, et al. The 2008 revision of the WHO classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood. 2009 Jul 30:114(5):937-951. Epub 2009 Apr 8.
18. Pardanani A, Akin C, Valent P. Pathogenesis, clinical features, and treatment advances in mastocytosis. Best Pract Res Clin Haematol. 2006;19(3):595-615.
19. Bain BJ. Relationship between idiopathic hypereosinophilic syndrome, eosinophilic leukemia, and systemic mastocytosis. Am J Hematol. 2004;77(1):82-85.
20. Gleich GJ, Leiferman KM. The hypereosinophilic syndromes: current concepts and treatments. Br J Haematol. 2009;145(3):271-285.
21. Sato Y, Taniguchi R, Yamada T, et al. Measurement of serum concentrations of cardiac troponin T in patients with hypereosinophilic syndrome: a sensitive non-invasive marker of cardiac disorder [letter]. Intern Med. 2000;39(4):350.
22. Pitini V, Arrigo C, Azzarello D, et al. Serum concentration of cardiac Troponin T in patients with hypereosinophilic syndrome treated with imatinib is predictive of adverse outcomes [letter]. Blood. 2003;102(9):3456-3457.
23. Ommen SR, Seward JB, Tajik AJ. Clinical and echocardiographic features of hypereosinophilic syndromes. Am J Cardiol. 2000;86(1):110-113.
24. Klion AD, Robyn J, Akin C, et al. Molecular remission and reversal of myelofibrosis in response to imatinib mesylate treatment in patients with the myeloproliferative variant of hypereosinophilic syndrome. Blood. 2004 Jan 15;103(2):473-478. Epub 2003 Sep 22.
25. Koury MJ, Newman JH, Murray JJ. Reversal of hypereosinophilic syndrome and lymphomatoid papulosis with mepolizumab and imatinib [letter]. Am J Med. 2003;115(7):587-589.
26. Ascione L, De Michele M, Accadia M, Spadaro P, Rumolo S, Tuccillo B. Reversal of cardiac abnormalities in a young man with idiopathic hypereosinophilic syndrome using a tyrosine kinase inhibitor. Eur J Echocardiogr. 2004;5(5):386-390.
27. Pardanani A, Brockman SR, Paternoster SF, et al. FIP1L1-PDGFRA fusion: prevalence and clinicopathologic correlates in 89 consecutive patients with moderate to severe eosinophilia. Blood. 2004 Nov 15;104(10):3038-3045. Epub 2004 Jul 29.
28. Greipp PT, Dewald GW, Tefferi A. Prevalence, breakpoint distribution, and clinical correlates of t(5;12). Cancer Genet Cytogenet. 2004;153(2):170-172.
29. Curtis CE, Grand FH, Musto P, et al. Two novel imatinib-responsive PDGFRA fusion genes in chronic eosinophilic leukaemia. Br J Haematol. 2007;138(1):77-81.
30. Vandenberghe P, Wlodarska I, Michaux L, et al. Clinical and molecular features of FIP1L1-PDFGRA (+) chronic eosinophilic leukemias. Leukemia. 2004;18(4):734-742.
31. Fink SR, Belongie KJ, Paternoster SF, et al. Validation of a new three-color fluorescence in situ hybridization (FISH) method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and PDGFRA translocations. Leuk Res. 2009 Jun;33(6):843-846. Epub 2008 Dec 31.
32. Pardanani A, Tefferi A. Imatinib targets other than bcr/abl and their clinical relevance in myeloid disorders. Blood. 2004 Oct 1;104(7):1931-1939. Epub 2004 May 27.
33. Helbig G, Moskwa A, Swiderska A, et al. Weekly imatinib dosage for chronic eosinophilic leukaemia expressing FIP1L1-PDGFRA fusion transcript: extended follow-up. Br J Haematol. 2009 Apr;145(1):132-134. Epub 2008 Dec 20.
34. Metzgeroth G, Walz C, Erben P, et al. Safety and efficacy of imatinib in chronic eosinophilic leukaemia and hypereosinophilic syndrome: a phase-II study. Br J Haematol. 2008 Dec;143(5):707-715. Epub 2008 Oct 17.
35. Baccarani M, Cilloni D, Rondoni M, et al. The efficacy of imatinib mesylate in patients with FIP1L1-PDGFRα-positive hypereosinophilic syndrome: results of a multicenter prospective study. Haematologica. 2007 Sep;92(9):1173-1179. Epub 2007 Aug 1.
36. Jovanovic JV, 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 Jun 1;109(11):4635-4640. Epub 2007 Feb 13.
37. Klion AD, Robyn J, Maric I, et al. Relapse following discontinuation of imatinib mesylate therapy for FIP1L1/PDGFRA-positive chronic eosinophilic leukemia: implications for optimal dosing. Blood. 2007 Nov 15;110(10):3552-3556. Epub 2007 Aug 20.
38. Lierman E, Michaux L, Beullens E, et al. FIP1L1-PDGFRα D842V, a novel panresistant mutant, emerging after treatment of FIP1L1-PDGF T674I eosinophilic leukemia with single agent sorafenib. Leukemia. 2009 May;23(5):845-851. Epub 2009 Feb 12.
39. Schöffski P, Ganser A, Pascheberg U, Büsche G, Gaede B, Hertenstein B. Complete haematological and cytogenetic response to interferon alpha-2a of a myeloproliferative disorder with eosinophilia associated with a unique t(4;7) aberration. Ann Hematol. 2000;79(2):95-98.
40. David M, Cross NC, Burgstaller S, et al. Durable responses to imatinib in patients with PDGFRB fusion gene-positive and BCR-ABL-negative chronic myeloproliferative disorders. Blood. 2007 Jan 1;109(1):61-64. Epub 2006 Sep 7.
41. Apperley JF, Gardembas M, Melo JV, et al. Response to imatinib mesylate in patients with chronic myeloproliferative diseases with rearrangements of the platelet-derived growth factor receptor beta. N Engl J Med. 2002 Aug 15;347(7):481-487.
42. Tefferi A. Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1. J Cell Mol Med. 2009 Feb 13;13(2):215-237. Epub 2008 Oct 23.
43. Cross NC, Reiter A. Fibroblast growth factor receptor and platelet-derived growth factor receptor abnormalities in eosinophilic myeloproliferative disorders. Acta Haematol. 2008;119(4):199-206. Epub 2008 Jun 20.
44. Luciano L, Catalano L, Sarrantonio C, Guerriero A, Califano C, Rotoli B. αIFN-induced hematologic and cytogenetic remission in chronic eosinophilic leukemia with t(1;5). Haematologica. 1999;84(7):651-653.
45. Malbrain MLNG, Van den Bergh H, Zachée P. Further evidence for the clonal nature of the idiopathic hypereosinophilic syndrome: complete haematological and cytogenetic remission induced by interferon-alpha in a case with a unique chromosomal abnormality. Br J Haematol. 1996;92(1):176-183.
46. Yamada O, Kitahara K, Imamura K, Ozasa H, Okada M, Mizoguchi H. Clinical and cytogenetic remission induced by interferon-α in a patient with chronic eosinophilic leukemia associated with a unique t(3;9;5) translocation. Am J Hematol. 1998;58(2):137-141.
47. Macdonald D, Reiter A, Cross NC. The 8p11 myeloproliferative syndrome: a distinct clinical entity caused by constitutive activation of FGFR1. Acta Haematol. 2002;107(2):101-107.
48. Pardanani A, Reeder T, Porrata LF, et al. Imatinib therapy for hypereosinophilic syndrome and other eosinophilic disorders. Blood. 2003 May 1;101(9):3391-3397. Epub 2002 Dec 27.
49. Seshadri T, Seymour JF, McArthur GA. Oligospermia in a patient receiving imatinib therapy for the hypereosinophilic syndrome [letter]. N Engl J Med. 2004;351(20):2134-2135.
50. Pye SM, Cortes J, Ault P, et al. The effects of imatinib on pregnancy outcome. Blood. 2008 Jun 15;111(12):5505-5508. Epub 2008 Mar 5.
51. Prin L, Lefebvre P, Gruart V, et al. Heterogeneity of human eosinophil glucocorticoid receptor expression in hypereosinophilic patients: absence of detectable receptor correlates with resistance to corticotherapy. Clin Exp Immunol. 1989;78(3):383-389.
52. Butterfield JH. Interferon treatment for hypereosinophilic syndromes and systemic mastocytosis. Acta Haematol. 2005;114(1):26-40.
53. Yamaguchi Y, Hayashi Y, Sugama Y, et al. Highly purified murine interleukin 5 (IL-5) stimulates eosinophil function and prolongs in vitro survival: IL-5 as an eosinophil chemotactic factor. J Exp Med. 1988;167(5):1737-1742.
54. Elsner J, Höchstetter R, Spiekermann K, Kapp A. Surface and mRNA expression of the CD52 antigen by human eosinophils but not by neutrophils. Blood. 1996;88(12):4684-4693.
55. Jain N, Cortes J, Quintás-Cardama A, et al. Imatinib has limited therapeutic activity for hypereosinophilic syndrome patients with unknown or negative PDGFRα mutation status. Leuk Res. 2009 Jun;33(6):837-839. Epub 2008 Nov 14.
56. Wolf D, Gastl G, Rumpold H. Complete remission of an idiopathic hypereosinophilic syndrome while using imatinib [in German]. Dtsch Med Wochenschr. 2004;129(40):2104-2106.
57. Butterfield JH. Success of short-term, higher-dose imatinib mesylate to induce clinical response in FIP1L1-PDGFRα-negative hypereosinophilic syndrome. Leuk Res. 2009 Aug;33(8):1127-1129. Epub 2009 Jan 13.
58. Rothenberg ME, Klion AD, Roufosse FE, et al. Treatment of patients with the hypereosinophilic syndrome with mepolizumab [published correction appears in N Engl J Med. 2008;358(23):2530]. N Engl J Med. 2008 Mar 20;358(12):1215-1228.
59. Mehr S, Rego S, Kakakios A, Kilham H, Kemp A. Treatment of a case of pediatric hypereosinophilic syndrome with anti-interleukin-5. J Pediatr. 2009;155(2):289-291.
60. Verstovsek S, Tefferi A, Kantarjian H, et al. Alemtuzumab therapy for hypereosinophilic syndrome and chronic eosinophilic leukemia. Clin Cancer Res. 2009;15(1):368-373.
61. Pitini V, Teti D, Arrigo C, Righi M. Alemtuzumab therapy for refractory idiopathic hypereosinophilic syndrome with abnormal T cells: a case report. Br J Haematol. 2004;127(5):477.
62. O'Brien S, Ravandi F, Riehl T, et al. Valganciclovir prevents cytomegalovirus reactivation in patients receiving alemtuzumab-based therapy. Blood. 2008 Feb 15;111(4):1816-1819. Epub 2007 Nov 26.
63. Hwang YY, Cheung WW, Leung AY, Tse E, Au WY, Kwong YL. Valganciclovir thrice weekly for prophylaxis against cytomegalovirus reactivation during alemtuzumab therapy [letter]. Leukemia. 2009 Apr;23(4):800-801. Epub 2008 Oct 9.
64. Halaburda K, Prejzner W, Szatkowski D, Limon J, Hellmann A. Allogeneic bone marrow transplantation for hypereosinophilic syndrome: long-term follow-up with eradication of FIP1L1-PDGFRA fusion transcript [letter]. Bone Marrow Transplant. 2006 Aug;38(4):319-320. Epub 2006 Jul 3.
65. Ueno NT, Anagnostopoulos A, Rondón G, et al. Successful non-myeloablative allogeneic transplantation for treatment of idiopathic hypereosinophilic syndrome. Br J Haematol. 2002;119(1):131-134.
66. Juvonen E, Volin L, Koponen A, Ruutu T. Allogeneic blood stem cell transplantation following non-myeloablative conditioning for hypereosinophilic syndrome. Bone Marrow Transplant. 2002;29(5):457-458.
67. Tefferi A, Levine RL, Lim KH, et al. Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates. Leukemia. 2009 May;23(5):900-904. Epub 2009 Mar 5.
68. Tefferi A, Pardanani A, Lim KH, et al. TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. Leukemia. 2009 May;23(5):905-911. Epub 2009 Mar 5.
69. Tefferi A, Lim KH, Abdel-Wahab O, et al. Detection of mutant TET2 in myeloid malignancies other than myeloproliferative neoplasms: CMML, MDS, MDS/MPN and AML [letter]. Leukemia. 2009;23(7):1343-1345. Epub 2009 Mar 19.
70. Delhommeau F, Dupont S, Della Valle V, et al. Mutation in TET2 in myeloid cancers. N Engl J Med. 2009 May 28;360(22):2289-2301.
71. James C, Ugo V, Le Couédic JP, et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature. 2005;434(7037):1144-1148.
72. Pikman Y, Lee BH, Mercher T, et al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med. 2006;3(7):e270.
73. Pardanani AD, Levine RL, Lasho T, et al. MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. Blood. 2006 Nov 15;108(10):3472-3476. Epub 2006 Jul 25.
74. Gotlib J, Cools J. Five years since the discovery of FIP1L1-PDGFRA: what we have learned about the fusion and other molecularly defined eosinophilias. Leukemia. 2008 Nov;22(11):1999-2010. Epub 2008 Oct 9.
75. Cross NC, Reiter A. Tyrosine kinase fusion genes in chronic myeloproliferative diseases. Leukemia. 2002;16(7):1207-1212.
76. Tefferi A, Pardanani A. Evaluation of "increased" hemoglobin in the JAK2 mutations era: a diagnostic algorithm based on genetic tests. Mayo Clin Proc. 2007;82(5):599-604.
77. Gotlib J, Berubé C, Growney JD, et al. Activity of the tyrosine kinase inhibitor PKC412 in a patient with mast cell leukemia with the D816V KIT mutation. Blood. 2005 Oct;106(8):2865-2870. Epub 2005 Jun 21.