Molecular characterization of the idiopathic hypereosinophilic syndrome (HES) in 35 French patients with normal conventional cytogenetics

Leukemia

Volumn 19, Issue 5, 2005, Pages 792-798

  Roche Lestienne, C ^a,b   Lepers, S ^b   Soenen Cornu, V ^a,b   Kahn, J E ^c   Lai J L ^a,b   Hachulla, E ^b   Drupt, F ^c   Demarty, A L ^d   Roumier, A S ^b   Gardembas, M ^e   Dib, M ^e   Philippe, N ^b   Cambier, N ^f   Barete, S ^g   Libersa, C ^d   Bletry, O ^c   Hatron, P Y ^b   Quesnel, B ^b   Rose, C ^f   Maloum, K ^g   Blanchet, O ^e   Fenaux, P ^h   Prin, L ^b   Preudhomme, C ^a,b   more..

^a INSERM   (France)

^b LILLE UNIVERSITY HOSPITAL   (France)

^c FOCH HOSPITAL   (France)

^d University of Lille   (France)

^e ANGERS UNIVERSITY HOSPITAL   (France)

^f Groupement Hospitalier de L'Institut Catholique Facultél Libre de Méldecine de Lille   (France)

^g PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^h AVICENNE HOSPITAL   (France)

Author keywords

FISH; Hypereosinophilia; Molecular characterization

Indexed keywords

CELL PROTEIN; IMATINIB; INTERLEUKIN 5; PLATELET DERIVED GROWTH FACTOR RECEPTOR; PLATELET DERIVED GROWTH FACTOR RECEPTOR A; PROTEIN FIP1L1; PROTEIN TYROSINE KINASE; TRYPTASE; UNCLASSIFIED DRUG;

ADULT; AGED; AMINO ACID SEQUENCE; ARTICLE; BONE MARROW CELL; CELL LINEAGE; CHROMOSOME 4Q; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; CYTOGENETICS; DISEASE CLASSIFICATION; ENZYME ACTIVITY; ENZYME BLOOD LEVEL; EXON; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRANCE; GENE FUSION; GENE MUTATION; GENE REARRANGEMENT; HUMAN; HYPEREOSINOPHILIC SYNDROME; IDIOPATHIC DISEASE; INTERSTITIAL CHROMOSOME DELETION; KARYOTYPE; LYMPHATIC SYSTEM DISEASE; MALE; MOLECULAR CLONING; MYELOPROLIFERATIVE DISORDER; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; T LYMPHOCYTE;

EID: 20844452877     PISSN: 08876924     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.leu.2403722     Document Type: Article

References (27)

1. Golub TR, Barker GF, Lovett M, Gilliland DG. Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation. Cell 1994; 77: 307-316.
2. Ross TS, Bernard OA, Berger R, Gilliland DG. Fusion of Huntingtin interacting protein 1 to platelet-derived growth factor beta receptor (PDGFbetaR) in chronic myelomonocytic leukemia with t(5;7)(q33;q11.2). Blood 1998; 91: 4419-4426.
3. Kulkarni S, Heath C, Parker S, Chase A, Iqbal S, Pocock CF et al. Fusion of H4/D10S170 to the platelet-derived growth factor receptor beta in BCR-ABL-negative myeloproliferative disorders with a t(5;10)(q33;q21). Cancer Res 2000; 60: 3592-3598.
4. Magnusson MK, Meade KE, Brown KE, Arthur DC, Krueger LA, Barrett AJ et al. Rabaptin-5 is a novel fusion partner to platelet-derived growth factor beta receptor in chronic myelomonocytic leukemia. Blood 2001; 98: 2518-2525.
5. Wilkinson K, Velloso ERP, Lopes LF, Lee C, As̀ter 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: 4187-4190.
6. Roufosse F, Cogan E, Goldman M. The hypereosinophilic syndrome revisited. Annu Rev Med 2003; 54: 169-184.
7. Goldman JM, Melo JV. Chronic myeloid leukemia-advances in biology and new approaches to treatment. N Engl J Med 2003; 349: 1451-1464.
8. Heinrich MC, Corless CL, Duensing A, McGreevey L, Chen CJ, Joseph N et al. PDGFRA activating mutations in gastrointestinal stromal tumors. Science 2003; 299: 708-710.
9. Baxter EJ, Hochhaus A, Bolufer P, Reiter A, Fernandez JM, Senent L et al. The t(4;22)(q12;q11) in atypical chronic myeloid leukaemia fuses BCR to PDGFRA. Hum Mol Genet 2002; 11: 1391-1397.
10. Irusta PM, DiMaio D. A single amino acid substitution in a WW-like domain of diverse members of the PDGF receptor subfamily of tyrosine kinases causes constitutive receptor activation. EMBO J 1998; 17: 6912-6923.
11. Cortes J, Ault P, Koller C, Thomas D, Ferrajoli A, Wierda W et al. Efficacy of imatinib mesylate in the treatment of idiopathic hypereosinophilic syndrome. Blood 2003; 101: 4714-4716.
12. Cools J, DeAngelo DJ, Gotlib J, Stover EH, Legare RD, 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 2003; 348: 1201-1214.
13. Griffin JH, Leung J, Bruner RJ, Caligiuri MA, Briesewitz R. Discovery of a fusion kinase in EOL-1 cells and idiopathic hypereosinophilic syndrome. Proc Natl Acad Sci USA 2003; 100: 7830-78355.
14. Gotlib J, Cools J, Malone JM, Malone JM, Schrier SL, Gilliland DG et al. The FIP1L1-PDGFR[alpha] fusion tyrosine kinase in hypereosinophilic syndrome and chronic eosinophilic leukemia: implications for diagnosis, classification, and management. Blood 2004; 103: 2879-2891.
15. Klion AD, Robyn J, Akin C, Noel P, Brown M, Law M 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; 103: 473-478.
16. Vandenberghe P, Wlodarska I, Michaux L, Zachee P, Boogaerts M, Vanstraelen D et al. Clinical and molecular features of Fip1L1-PDGFRA (+) chronic eosinophilic leukemias. Leukemia 2004; 18: 734-742.
17. Pardanani A, Ketterling RP, Brockman SR, Flynn HC, Paternoster SF, Shearer BM 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: 3093-3096.
18. Pardanani A, Brockman SR, Paternoster SF, Flynn HC, Ketterling RP, Lasho TL et al. FIP1L1-PDGFRA fusion: prevalence and clinicopathologic correlates in 89 consecutive patients with moderate to severe eosinophilia. Blood 2004; 1104: 3038-3045.
19. Chusid MJ, Dale DC, West BC, Wolff SM. The hypereosinophilic syndrome: analysis of fourteen cases with review of the literature. Medicine (Baltimore) 1975; 54: 1-27.
20. Cave H, Guidal C, Rohrlich P, Delfau MH, Broyart A, Lescoeur B et al. Prospective monitoring and quantitation of residual blasts in childhood acute lymphoblastic leukemia by polymerase chain reaction study of delta and gamma T-cell receptor genes. Blood 1994; 83: 1892-1902.
21. Preudhomme C, Révillion F, Merlat A, Hornez L, Roumier C, Duflos-Grardel N et al. Detection of BCR-ABL transcripts in chronic myeloid leukemia (CML) using a 'real time' quantitative RT-PCR assay. Leukemia 1999; 13: 957-964.
22. Cogan E, Schandene L, Crusiaux A, Crusiaux A, Cochaux P, Velu T et al. Brief report: clonal proliferation of type 2 helper T cells in a man with the hypereosinophilic syndrome. N Engl J Med 1994; 330: 535-538.
23. Simon HU, Plotz SG, Dummer R, Blaser K. Abnormal clones of T cells producing interleukin-5 in idiopathic eosinophilia. N Engl J Med 1999; 3411: 1112-1120.
24. Tefferi A, Lasho TL, Brockman SR, Elliott MA, Dispenzieri A, Pardanani A. FIP1L1-PDGFRA and c-kit D816V mutation-based clonality studies in systemic mast cell disease associated with eosinophilia. Haematologica 2004; 89: 871-873.
25. Klion AD, Noel P, Akin C, Law MA, Gilliland DG, 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 2003; 101: 4660-4666.
26. Rose C, Dupire S, Roche-Lestienne C, Rose C, Dupire S, Roche-Lestienne C et al. Sustained molecular response with imatinib in a leukemic form of idiopathic hypereosinophilic syndrome in relapse after allograft. Leukemia 2004; 118: 354-355.
27. Prin L, Capron M, Tonnel AB, Bletry O, Capron A. Heterogeneity of human peripheral blood eosinophils: variability in cell density and cytotoxic ability in relation to the level and the origin of hypereosinophilia. Int Arch Allergy Appl Immunol 1983; 72: 336-346.