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Blood, 15 November 2004, Vol. 104, No. 10, pp. 3038-3045. Prepublished online as a Blood First Edition Paper on July 29, 2004; DOI 10.1182/blood-2004-03-0787. This Article Full Text (PDF) All Versions of this Article: 2004-03-0787v1 104/10/3038    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Pardanani, A. Articles by Tefferi, A. Search for Related Content PubMed PubMed Citation Articles by Pardanani, A. Articles by Tefferi, A. Related Collections Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted March 2, 2004 Accepted June 2, 2004 FIP1L1-PDGFRA fusion: Prevalence and clinicopathologic correlates in 89 consecutive patients with moderate to severe eosinophilia Animesh Pardanani, Stephanie R Brockman, Sarah F Paternoster, Heather C Flynn, Rhett P Ketterling, Terra L Lasho, Ching-Liang Ho, Chin-Yang Li, Gordon W Dewald, and Ayalew Tefferi* Divisions of Hematology and Internal Medicine, Mayo Clinic, Rochester, MN, USA Laboratory Genetics, Mayo Clinic, Rochester, MN, USA Division of Hematopathology, Mayo Clinic, Rochester, MN, USA * Corresponding author; email: tefferi.ayalew{at}mayo.edu. A novel oncogenic mutation (FIP1L1-PDGFRA), which results in a constitutively activated platelet-derived growth factor receptor- (PDGFRA), has been invariably associated with a primary eosinophilic disorder. The current study examines both the prevalence and the associated clinicopathologic features of this mutation in a cohort of 89 adult patients presenting with an absolute eosinophil count (AEC) of >1.5 x 109/L. A fluorescence in situ hybridization (FISH)-based strategy was used to detect FIP1L1-PDGFRA in bone marrow cells. None of 8 patients with reactive eosinophilia displayed the abnormality while the incidence of FIP1L1-PDGFRA in the remaining 81 patients with primary eosinophilia was 14% (11 patients). None of 57 patients (0%) with the hypereosinophilic syndrome (HES) but 10 of 19 patients (56%) with systemic mast cell disease associated with eosinophilia (SMCD-eos) carried the specific mutation. Bone marrow mast cell infiltration pattern in FIP1L1-PDGFRA+ SMCD-eos was distinctly diffuse with loose tumoral aggregates. Treatment with low-dose imatinib (100 mg/day) produced complete and durable responses in all 8 FIP1L1-PDGFRA+ cases treated. In contrast, only 40% partial response rate was seen in 10 HES cases. FIP1L1-PDGFRA is a relatively infrequent, but treatment-relevant mutation in primary eosinophilia that is indicative of an underlying systemic mastocytosis. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: The FIP1L1-PDGFRA syndrome: a case of mistaken identity? Jane Apperley and Barbara Bain Blood 2004 104: 2999-3000. [Full Text] [PDF] This article has been cited by other articles: S. Verstovsek, A. Tefferi, J. Cortes, S. O'Brien, G. Garcia-Manero, A. Pardanani, C. Akin, S. Faderl, T. Manshouri, D. Thomas, et al. Phase II Study of Dasatinib in Philadelphia Chromosome-Negative Acute and Chronic Myeloid Diseases, Including Systemic Mastocytosis Clin. Cancer Res., June 15, 2008; 14(12): 3906 - 3915. [Abstract] [Full Text] [PDF] C Williams, S Kalra, U Nath, N Bown, V Wilson, B S Wilkins, and A J Neylon FIP1L1-PDGFRA positive chronic eosinophilic leukaemia and associated central nervous system involvement J. Clin. Pathol., May 1, 2008; 61(5): 677 - 680. [Abstract] [Full Text] [PDF] V. Zota, P. M. Miron, B. A. Woda, A. Raza, and S. A. Wang Eosinophilia With FIP1L1-PDGFRA Fusion in a Patient With Chronic Myelomonocytic Leukemia J. Clin. Oncol., April 20, 2008; 26(12): 2040 - 2041. [Full Text] [PDF] A. Tefferi, S. Verstovsek, and A. Pardanani How we diagnose and treat WHO-defined systemic mastocytosis in adults Haematologica, January 1, 2008; 93(1): 6 - 9. [Full Text] [PDF] A. Reiter, D. Grimwade, and N. C.P. Cross Diagnostic and therapeutic management of eosinophilia-associated chronic myeloproliferative disorders Haematologica, September 1, 2007; 92(9): 1153 - 1158. [Full Text] [PDF] M. Baccarani, D. Cilloni, M. Rondoni, E. Ottaviani, F. Messa, S. Merante, M. Tiribelli, F. Buccisano, N. Testoni, E. Gottardi, et al. The efficacy of imatinib mesylate in patients with FIP1L1-PDGFR{alpha}-positive hypereosinophilic syndrome. Results of a multicenter prospective study Haematologica, September 1, 2007; 92(9): 1173 - 1179. [Abstract] [Full Text] [PDF] F. Lambert, P. Heimann, C. Herens, A. Chariot, and V. Bours A Case of FIP1L1-PDGFRA-Positive Chronic Eosinophilic Leukemia with a Rare FIP1L1 Breakpoint J. Mol. Diagn., July 1, 2007; 9(3): 414 - 419. [Abstract] [Full Text] [PDF] J. V. Jovanovic, J. Score, K. Waghorn, D. Cilloni, E. Gottardi, G. Metzgeroth, P. Erben, H. Popp, C. Walz, A. Hochhaus, 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, June 1, 2007; 109(11): 4635 - 4640. [Abstract] [Full Text] [PDF] A. 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Cancelas The FIP1L1-PDGFRA fusion gene cooperates with IL-5 to induce murine hypereosinophilic syndrome (HES)/chronic eosinophilic leukemia (CEL)-like disease Blood, May 15, 2006; 107(10): 4071 - 4079. [Abstract] [Full Text] [PDF] M. M. Schittenhelm, S. Shiraga, A. Schroeder, A. S. Corbin, D. Griffith, F. Y. Lee, C. Bokemeyer, M. W.N. Deininger, B. J. Druker, and M. C. Heinrich Dasatinib (BMS-354825), a Dual SRC/ABL Kinase Inhibitor, Inhibits the Kinase Activity of Wild-Type, Juxtamembrane, and Activation Loop Mutant KIT Isoforms Associated with Human Malignancies Cancer Res., January 1, 2006; 66(1): 473 - 481. [Abstract] [Full Text] [PDF] D. P. Steensma, G. W. Dewald, T. L. Lasho, H. L. Powell, R. F. McClure, R. L. Levine, D. G. Gilliland, and A. Tefferi The JAK2 V617F activating tyrosine kinase mutation is an infrequent event in both "atypical" myeloproliferative disorders and myelodysplastic syndromes Blood, August 15, 2005; 106(4): 1207 - 1209. [Abstract] [Full Text] [PDF] A. 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