Eosinophilia in systemic mastocytosis: Clinical and molecular correlates and prognostic significance

Journal of Allergy and Clinical Immunology

Volumn 120, Issue 1, 2007, Pages 192-199

  Böhm, Alexandra ^a   Födinger, Manuela ^b   Wimazal, Friedrich ^a   Haas, Oskar A ^c   Mayerhofer, Matthias ^b   Sperr, Wolfgang R ^a   Esterbauer, Harald ^b   Valent, Peter ^a  

^a Division of Hematology and Hemostaseology   (Austria)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c CHILDREN'S CANCER RESEARCH INSTITUTE   (Austria)

Author keywords

eosinophilia; FIP1L1 PDGFR ; KIT D816V; Mastocytosis; targets

Indexed keywords

ALPHA INTERFERON; CLADRIBINE; GLUCOCORTICOID; IMATINIB;

ADULT; AGED; ARTICLE; CARDIOMYOPATHY; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE CLASSIFICATION; DOSE RESPONSE; DRUG DOSE ESCALATION; EOSINOPHILIA; EOSINOPHILIC LEUKEMIA; FEMALE; FOLLOW UP; GENE DELETION; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROGNOSIS; SYSTEMIC MASTOCYTOSIS; TREATMENT RESPONSE;

ADULT; AGED; BIOLOGICAL MARKERS; EOSINOPHILIA; FEMALE; FOLLOW-UP STUDIES; HUMANS; MALE; MASTOCYTOSIS, SYSTEMIC; MIDDLE AGED; PROGNOSIS; SURVIVAL ANALYSIS;

EID: 34250894934     PISSN: 00916749     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaci.2007.03.015     Document Type: Article

References (52)

1. Lennert K., and Parwaresch M.R. Mast cells and mast cell neoplasia: a review. Histopathology 3 (1979) 349-365
2. Metcalfe D.D. Classification and diagnosis of mastocytosis: current status. J Invest Dermatol 96 suppl (1991) 2S-4S
3. Austen K.F. Systemic mastocytosis. N Engl J Med 326 (1992) 639-640
4. Valent P. Biology, classification and treatment of human mastocytosis. Wien Klin Wochenschr 108 (1996) 385-397
5. Escribano L., Akin C., Castells M., Orfao A., and Metcalfe D.D. Mastocytosis: current concepts in diagnosis and treatment. Ann Hematol 81 (2002) 677-690
6. Akin C., and Metcalfe D.D. Systemic mastocytosis. Annu Rev Med 55 (2004) 419-432
7. Tefferi A., and Pardanani A. Systemic mastocytosis: current concepts and treatment advances. Curr Hematol Rep 3 (2004) 197-202
8. Nagata H., Worobec A.S., Oh C.K., Chowdhury B.A., Tannenbaum S., Suzuki Y., et al. Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. Proc Natl Acad Sci U S A 92 (1995) 10560-10564
9. Longley B.J., Tyrrell L., Lu S.Z., Ma Y.S., Langley K., Ding T.G., et al. Somatic c-kit activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm. Nat Genet 12 (1996) 312-314
10. Fritsche-Polanz R., Jordan J.H., Feix A., Sperr W.R., Sunder-Plassmann G., Valent P., et al. Mutation analysis of C-KIT in patients with myelodysplastic syndromes without mastocytosis and cases of systemic mastocytosis. Br J Haematol 113 (2001) 357-364
11. Feger F., Ribadeau Dumas A., Leriche L., Valent P., and Arock M. Kit and c-kit mutations in mastocytosis: a short overview with special reference to novel molecular and diagnostic concepts. Int Arch Allergy Immunol 127 (2002) 110-114
12. Valent P., Horny H.P., Escribano L., Longley J.B., Li C.Y., Schwartz L.B., et al. Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk Res 25 (2001) 603-625
13. Valent P., Horny H.P., Li C.Y., Longley J.B., Metcalfe D.D., Parwaresch R.M., et al. Mastocytosis. In: Jaffe E.S., Harris N.L., Stein H., and Vardiman J.W. (Eds). World Health Organization (WHO) classification of tumours. Pathology and genetics. Tumours of haematopoietic and lymphoid tissues. Vol 1 (2001), IARC Press, Lyon 291-302
14. Valent P., Akin C., Sperr W.R., Horny H.-P., and Metcalfe D.D. Mast cell proliferative disorders: current view on variants recognized by the World Health Organization. Hematol Oncol Clin North Am 17 (2003) 1227-1241
15. Travis W.D., Li C.Y., Yam L.T., Bergstralh E.J., and Swee R.G. Significance of systemic mast cell disease with associated hematologic disorders. Cancer 62 (1988) 965-972
16. Horny H.P., Ruck M., Wehrmann M., and Kaiserling E. Blood findings in generalized mastocytosis: evidence of frequent simultaneous occurrence of myeloproliferative disorders. Br J Haematol 76 (1990) 186-193
17. Lawrence J.B., Friedman B.S., Travis W.D., Chinchilli V.M., Metcalfe D.D., and Gralnick H.R. Hematologic manifestation of systemic mast cell disease: a prospective study of laboratory and morphologic features and their relation to prognosis. Am J Med 91 (1991) 612-624
18. Sperr W.R., Horny H.P., Lechner K., and Valent P. Clinical and biologic diversity of leukemias occurring in patients with mastocytosis. Leuk Lymphoma 37 (2000) 473-486
19. Sperr W.R., Horny H.P., and Valent P. Spectrum of associated clonal hematologic non-mast cell lineage disorders occurring in patients with systemic mastocytosis. Int Arch Allergy Immunol 127 (2002) 140-142
20. Horny H.P., Sotlar K., Sperr W.R., and Valent P. Systemic mastocytosis with associated clonal haematological non-mast cell lineage diseases: a histopathological challenge. J Clin Pathol 57 (2004) 604-608
21. Pardanani A., Ketterling R.P., Brockman S.R., Flynn H.C., Paternoster S.F., Shearer B.M., 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 102 (2003) 3093-3096
22. Pardanani A., Brockman S.R., Paternoster S.F., Flynn H.C., Ketterling R.P., Lasho T.L., et al. FIP1L1-PDGFRA fusion: prevalence and clinicopathologic correlates in 89 consecutive patients with moderate to severe eosinophilia. Blood 104 (2004) 3038-3045
23. Tefferi A., and Pardanani A. Clinical, genetic, and therapeutic insights into systemic mast cell disease. Curr Opin Hematol 11 (2004) 58-64
24. Florian S., Esterbauer H., Binder T., Müllauer L., Haas O.A., Sperr W.R., et al. Systemic mastocytosis (SM) associated with chronic eosinophilic leukemia (SM-CEL): Detection of FIP1L1/PDGFRalpha, classification by WHO criteria, and response to therapy with imatinib. Leuk Res 30 (2006) 1201-1205
25. Bain B., Pierre R., Imbert M., Vardiman J.W., Brunning R.D., and Flandrin G. Chronic eosinophilic leukemia and hypereosinophilic syndrome. In: Jaffe E.S., Harris N.L., Stein H., and Vardiman J.W. (Eds). World Health Organization (WHO) classification of tumours. Pathology and genetics. Tumours of haematopoietic and lymphoid tissues. Vol 1 (2001), IARC Press, Lyon 29-31
26. Bain B.J. Relationship between idiopathic hypereosinophilic syndrome, eosinophilic leukemia, and systemic mastocytosis. Am J Hematol 77 (2004) 82-85
27. Sperr W.R., Escribano L., Jordan J.H., Schernthaner G.H., Kundi M., Horny H.P., et al. Morphologic properties of neoplastic mast cells: delineation of stages of maturation and implication for cytological grading of mastocytosis. Leuk Res 25 (2001) 529-536
28. Schernthaner G.H., Jordan J.H., Ghannadan M., Agis H., Bevec D., Nunez R., et al. Expression, epitope analysis, and functional role of the LFA-2 antigen detectable on neoplastic mast cells. Blood 98 (2001) 3784-3792
29. Escribano L., Diaz-Agustin B., Lopez A., Nunez Lopez R., Garcia-Montero A., Almeida J., et al. Spanish Network on Mastocytosis (REMA). Immunophenotypic analysis of mast cells in mastocytosis: When and how to do it. Proposals of the Spanish Network on Mastocytosis (REMA). Cytometry B Clin Cytom 58 (2004) 1-8
30. ISCN. An international system for human cytogenetic nomenclature. Cytogenet Cell Genet 31 (1981) 5
31. Cools J., Bilhou-Nabera C., Wlodarska I., Cabrol C., Talmant P., Bernard P., et al. Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13). Blood 94 (1999) 1820-1824
32. König M., Reichel M., Marschalek R., Haas O.A., and Strehl S. A highly specific and sensitive fluorescence in situ hybridization assay for the detection of t(4;11)(q21;q23) and concurrent submicroscopic deletions in acute leukaemias. Br J Haematol 116 (2002) 758-764
33. Cools J., DeAngelo D.J., Gotlib J., Stover E.H., Legare R.D., Cortes 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 348 (2003) 1201-1214
34. Pallisgaard N., Hokland P., Riishoj D.C., Pedersen B., and Jorgensen P. Multiplex reverse transcription-polymerase chain reaction for simultaneous screening of 29 translocations and chromosomal aberrations in acute leukemia. Blood 92 (1998) 574-588
35. Födinger M., Winkler K., Mannhalter C., and Chott A. Combined polymerase chain reaction approach for clonality detection in lymphoid neoplasms. Diagn Mol Pathol 8 (1999) 80-91
36. Mitterbauer-Hohendanner G., Mannhalter C., Winkler K., Mitterbauer M., Skrabs C., Chott A., et al. Prognostic significance of molecular staging by PCR-amplification of immunoglobulin gene rearrangements in diffuse large B-cell lymphoma (DLBCL). Leukemia 18 (2004) 1102-1107
37. Kluin-Nelemans H.C., Oldhoff J.M., Van Doormaal J.J., Van't Wout J.W., Verhoef G., Gerrits W.B., et al. Cladribine therapy for systemic mastocytosis. Blood 102 (2003) 4270-4276
38. Valent P., Akin C., Sperr W.R., Escribano L., Arock M., Horny H.P., et al. Aggressive systemic mastocytosis and related mast cell disorders: current treatment options and proposed response criteria. Leuk Res 27 (2003) 635-641
39. Hauswirth A.W., Simonitsch-Klupp I., Uffmann M., Koller E., Sperr W.R., Lechner K., et al. Response to therapy with interferon alpha-2b and prednisolone in aggressive systemic mastocytosis: report of five cases and review of the literature. Leuk Res 28 (2004) 249-257
40. Hauswirth A.W., Sperr W.R., Ghannadan M., Schernthaner G.H., Jordan J.H., Fritsche-Polanz R., et al. A case of smouldering mastocytosis with peripheral blood eosinophilia and lymphadenopathy. Leuk Res 26 (2002) 601-606
41. Gotlib J. Molecular classification and pathogenesis of eosinophilic disorders: 2005 update. Acta Haematol 114 (2005) 7-25
42. Tefferi A. Modern diagnosis and treatment of primary eosinophilia. Acta Haematol 114 (2005) 52-60
43. Bain B.J. Eosinophilic leukemia and idiopathic hypereosinophilic syndrome are mutually exclusive diagnoses. Blood 104 (2004) 3836-3837
44. Pardanani A., Reeder T., Porrata L.F., Li C.Y., Tazelaar H.D., Baxter E.J., et al. Imatinib therapy for hypereosinophilic syndrome and other eosinophilic disorders. Blood 101 (2003) 3391-3397
45. Klion A.D., Noel P., Akin C., Law M.A., Gilliland D.G., Cools J., et al. Elevated serum tryptase levels identify a subset of patients with a myeloproliferative variant of idiopathic hypereosinophilic syndrome associated with tissue fibrosis, poor prognosis, and imatinib responsiveness. Blood 101 (2003) 4660-4666
46. Klion A.D., Law M.A., Riemenschneider W., McMaster M.L., Brown M.R., Horne M., et al. Familial eosinophilia: a benign disorder?. Blood 103 (2004) 4050-4055
47. Fauci A.S., Harley J.B., Roberts W.C., Ferrans V.J., Gralnick H.R., and Bjornson B.H. NIH conference. The idiopathic hypereosinophilic syndrome. Clinical, pathophysiologic, and therapeutic considerations. Ann Intern Med 97 (1982) 78-92
48. Christen R., Morant R., Schneider J., Jenni R., and Fehr J. Progressive dilated cardiomyopathy in a patient with longstanding and complete prednisone-induced hematological remission of idiopathic hypereosinophilic syndrome. Klin Wochenschr 67 (1989) 358-365
49. Nunoda S., and Genda A. A case of hypereosinophilic syndrome with asymmetric septal hypertrophy. Heart Vessels 6 (1991) 116-120
50. Corradi D., Vaglio A., Maestri R., Legname V., Leonardi G., Bartoloni G., et al. Eosinophilic myocarditis in a patient with idiopathic hypereosinophilic syndrome: insights into mechanisms of myocardial cell death. Hum Pathol 35 (2004) 1160-1163
51. Kerkela R., Grazette L., Yacobi R., Iliescu C., Patten R., Beahm C., et al. Cardiotoxicity of the cancer therapeutic agent imatinib mesylate. Nat Med 12 (2006) 908-916
52. Müller A.M., Martens U.M., Hofmann S.C., Bruckner-Tuderman L., Mertelsmann R., and Lübbert M. Imatinib mesylate as a novel treatment option for hypereosinophilic syndrome: two case reports and a comprehensive review of the literature. Ann Hematol 85 (2006) 1-16