Recurrent finding of the FIP1L1-PDGFRA fusion gene in eosinophilia-associated acute myeloid leukemia and lymphoblastic T-cell lymphoma

Leukemia

Volumn 21, Issue 6, 2007, Pages 1183-1188

  Metzgeroth, G ^a   Walz, C ^a   Score, J ^b   Siebert, R ^c   Schnittger, S ^d   Haferlach, C ^d   Popp, H ^a   Haferlach, T ^d   Erben, P ^a   Mix, J ^a   Muller M C ^a   Beneke, H ^e   Muller L ^f   Del Valle, F ^g   Aulitzky, W E ^h   Wittkowsky, G ⁱ   Schmitz, N ^j   Schulte, C ^k   Muller Hermelink K ^l   Hodges, E ^b   Whittaker, S J ^m   Diecker, F ^d   Dohner H ^e   Schuld, P ⁿ   Hehlmann, R ^a   Hochhaus, A ^a   Cross, N C P ^b   Reiter, A ^a   more..

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c UNIVERSITY OF KIEL   (Germany)

^d MLL MUNICH LEUKEMIA LABORATORY   (Germany)

^e UNIVERSITY HOSPITAL ULM   (Germany)

^f Onkologische Schwerpunktpraxis   (Germany)

^g II Medizinische Klinik   (Germany)

^h ROBERT BOSCH HOSPITAL   (Germany)

ⁱ Internistisch rheumatologische Gemeinschaftspraxis   (Germany)

^j DEPARTMENT OF CARDIOLOGY   (Germany)

^k Institut für Hämatopathologie Hamburg   (Germany)

^l UNIVERSITY OF WÜRZBURG   (Germany)

^m ST THOMAS HOSPITAL   (United Kingdom)

ⁿ Novartis Pharma   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CD135 ANTIGEN; GENE PRODUCT; IMATINIB; JANUS KINASE 2; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; PROTEIN FIP1L1; TRANSCRIPTION FACTOR RUNX1; UNCLASSIFIED DRUG;

ACUTE GRANULOCYTIC LEUKEMIA; ADULT; AGED; ARTICLE; CANCER CHEMOTHERAPY; CLINICAL ARTICLE; DISEASE ASSOCIATION; EOSINOPHILIA; EXON; FUSION GENE; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN TISSUE; LEUKEMIA RELAPSE; LEUKEMIA REMISSION; LYMPHOBLASTOMA; MAINTENANCE THERAPY; MALE; MONOTHERAPY; NONHODGKIN LYMPHOMA; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; T CELL LYMPHOMA; TREATMENT DURATION;

EID: 34249742721     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/sj.leu.2404662     Document Type: Article

References (33)

1. Bain BJ. Cytogenetic and molecular genetic aspects of eosinophilic leukaemias. Br J Haematol 2003; 122: 173-179.
2. 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.
3. Weller PF, Bubley GJ. The idiopathic hypereosinophilic syndrome. Blood 1994; 83: 2759-2779.
4. Kuroda J, Kimura S, Akaogi T, Hayashi H, Yamano T, Sasai Y et al. Myelodysplastic syndrome with clonal eosinophilia accompanied by eosinophilic pulmonary interstitial infiltration. Acta Haematol 2000; 104: 119-123.
5. Macdonald D, Reiter A, Cross NC. The 8p11 myeloproliferative syndrome: A distinct clinical entity caused by constitutive activation of FGFR1. Acta Haematol 2002; 107: 101-107.
6. Steer EJ, Cross NC. Myeloproliferative disorders with translocations of chromosome 5q31-35: Role of the platelet-derived growth factor receptor beta. Acta Haematol 2002; 107: 113-122.
7. 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.
8. Gilliland G, Cools J, Stover EH, Wlodarska I, Marynen P. FIP1L1-PDGFRalpha in hypereosinophilic syndrome and mastocytosis. Hematol J 2004; 5 (Suppl 3): S133-S137.
9. 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.
10. Pardanani A, Reeder T, Porrata LF, Li CY, Tazelaar HD, Baxter EJ et al. Imatinib therapy for hypereosinophilic syndrome and other eosinophilic disorders. Blood 2003; 101: 3391-3397.
11. Tefferi A. Modern diagnosis and treatment of primary eosinophilia. Acta Haematol 2005; 114: 52-60.
12. Pardanani A, Ketterling RP, Li CY, Patnaik MM, Wolanskyj AP, Elliott MA et al. FIP1L1-PDGFRA in eosinophilic disorders: Prevalence in routine clinical practice, long-term experience with imatinib therapy, and a critical review of the literature. Leuk Res 2006; 30: 965-970.
13. Cools J, Stover EH, Gilliland DG. Detection of the FIP1L1-PDGFRA fusion in idiopathic hypereosinophilic syndrome and chronic eosinophilic leukemia. Methods Mol Med 2006; 125: 177-187.
14. Robyn J, Lemery S, McCoy JP, Kubofcik J, Kim YJ, Pack S et al. Multilineage involvement of the fusion gene in patients with FIP1L1/ PDGFRA-positive hypereosinophilic syndrome. Br J Haematol 2006; 132: 286-292.
15. Nakao M, Janssen JW, Erz D, Seriu T, Bartram CR. Tandem duplication of the FLT3 gene in acute lymphoblastic leukemia: A marker for the monitoring of minimal residual disease. Leukemia 2000; 14: 522-524.
16. Schnittger S, Kinkelin U, Schoch C, Heinecke A, Haase D, Haferlach T et al. Screening for MLL tandem duplication in 387 unselected patients with AML identify a prognostically unfavorable subset of AML. Leukemia 2000; 14: 796-804.
17. Schnittger S, Schoch C, Dugas M, Kern W, Staib P, Wuchter C et al. Analysis of FLT3 length mutations in 1003 patients with acute myeloid leukemia: Correlation to cytogenetics, FAB subtype, and prognosis in the AMLCG study and usefulness as a marker for the detection of minimal residual disease. Blood 2002; 100: 59-66.
18. Schnittger S, Schoch C, Kern W, Mecucci C, Tschulik C, Martelli MF et al. Nucleophosmin gene mutations are predictors of favorable prognosis in acute myelogenous leukemia with a normal karyotype. Blood 2005; 106: 3733-3739.
19. Nakao M, Janssen JW, Seriu T, Bartram CR. Rapid and reliable detection of N-ras mutations in acute lymphoblastic leukemia by melting curve analysis using LightCycler technology. Leukemia 2000; 14: 312-315.
20. Miyoshi H, Ohira M, Shimizu K, Mitani K, Hirai H, Imai T et al. Alternative splicing and genomic structure of the AML1 gene involved in acute myeloid leukemia. Nucleic Acids Res 1995; 23: 2762-2769.
21. Score J, Curtis C, Waghorn K, Stalder M, Jotterand M, Grand FH et al. Identification of a novel imatinib responsive KIF5B-PDGFRA fusion gene following screening for PDGFRA overexpression in patients with hypereosinophilia. Leukemia 2006; 20: 827-832.
22. Piccaluga PP, Agostinelli C, Zinzani PL, Baccarani M, Dalla FR, Pileri SA. Expression of platelet-derived growth factor receptor alpha in peripheral T-cell lymphoma not otherwise specified. Lancet Oncol 2005; 6: 440.
23. Cross NC, Reiter A. Tyrosine kinase fusion genes in chronic myeloproliferative diseases. Leukemia 2002; 16: 1207-1212.
24. Giles FJ, Cortes JE, Kantarjian HM. Targeting the kinase activity of the BCR-ABL fusion protein in patients with chronic myeloid leukemia. Curr Mol Med 2005; 5: 615-623.
25. von Bubnoff N, Sandherr M, Schlimok G, Andreesen R, Peschel C, Duyster J. Myeloid blast crisis evolving during imatinib treatment of an FIP1L1-PDGFR alpha-positive chronic myeloproliferative disease with prominent eosinophilia. Leukemia 2005; 19: 286-287.
26. Vandenberghe P, Wlodarska I, Michaux L, Zachee P, Boogaerts M, Vanstraelen D et al. Clinical and molecular features of FIP1L1-PDFGRA (+) chronic eosinophilic leukemias. Leukemia 2004; 18: 734-742.
27. Mrozek K, Marcucci G, Paschka P, Whitman SP, Bloomfield CD. Clinical relevance of mutations and gene-expression changes in adult acute myeloid leukemia with normal cytogenetics: Are we ready for a prognostically prioritized molecular classification? Blood 2007; 109: 431-448.
28. Suzuki M, Abe A, Kiyoi H, Murata M, Ito Y, Shimada K et al. Mutations of N-RAS, FLT3 and p53 genes are not involved in the development of acute leukemia transformed from myeloproliferative diseases with JAK2 mutation. Leukemia 2006; 20: 1168-1169.
29. Reiter A, Walz C, Watmore A, Schoch C, Blau I, Schlegelberger B et al. The t(8;9)(p22;p24) is a recurrent abnormality in chronic and acute leukemia that fuses PCM1 to JAK2. Cancer Res 2005; 65: 2662-2667.
30. Roche-Lestienne C, Lepers S, Soenen-Cornu V, Kahn JE, Lai JL, Hachulla E et al. Molecular characterization of the idiopathic hypereosinophilic syndrome (HES) in 35 French patients with normal conventional cytogenetics. Leukemia 2005; 19: 792-798.
31. Macdonald D, Aguiar RC, Mason PJ, Goldman JM, Cross NC. A new myeloproliferative disorder associated with chromosomal translocations involving 8p11: A review. Leukemia 1995; 9: 1628-1630.
32. Cools J, Stover EH, Boulton CL, Gotlib J, Legare RD, Amaral SM et al. PKC412 overcomes resistance to imatinib in a murine model of FIP1L1-PDGFRalpha-induced myeloproliferative disease. Cancer Cell 2003; 3: 459-469.
33. Lierman E, Folens C, Stover EH, Mentens N, Van Miegroet H, Scheers W et al. Sorafenib is a potent inhibitor of FIP1L1-PDGFRalpha and the imatinib-resistant FIP1L1-PDGFRalpha T674I mutant. Blood 2006; 108: 1374-1376.