|
|
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.
 Previous Article | Table of Contents | Next Article 
CLINICAL OBSERVATIONS, INTERVENTIONS, AND THERAPEUTIC TRIALS
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
From the Divisions of Hematology and Internal Medicine, Laboratory Genetics, and Hematopathology, Mayo Clinic, Rochester, MN.
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 higher than 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, whereas the incidence of FIP1L1-PDGFRA in the remaining 81 patients with primary eosinophilia was 14% (11 patients). None (0%) of 57 patients with the hypereosinophilic syndrome (HES) but 10 (56%) of 19 patients with systemic mast cell disease associated with eosinophilia (SMCD-eos) carried the specific mutation. The 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/d) 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. Tefferi
Primary myelofibrosis and its paraneoplastic stromal effects
Haematologica,
May 1, 2007;
92(5):
577 - 579.
[Full Text]
[PDF]
|
|
|
|
|
|
|
M. Buitenhuis, L. P. Verhagen, J. Cools, and P. J. Coffer
Molecular Mechanisms Underlying FIP1L1-PDGFRA-Mediated Myeloproliferation
Cancer Res.,
April 15, 2007;
67(8):
3759 - 3766.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
P. J. Campbell and A. R. Green
The Myeloproliferative Disorders
N. Engl. J. Med.,
December 7, 2006;
355(23):
2452 - 2466.
[Full Text]
[PDF]
|
|
|
|
|
|
|
C. L. Corless, P. Harrell, M. Lacouture, T. Bainbridge, C. Le, K. Gatter, C. White Jr, S. Granter, and M. C. Heinrich
Allele-Specific Polymerase Chain Reaction for the Imatinib-Resistant KIT D816V and D816F Mutations in Mastocytosis and Acute Myelogenous Leukemia
J. Mol. Diagn.,
November 1, 2006;
8(5):
604 - 612.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
D. Boyer, S. O. Vargas, D. Slattery, Y. M. Rivera-Sanchez, and A. A. Colin
Churg-Strauss Syndrome in Children: A Clinical and Pathologic Review
Pediatrics,
September 1, 2006;
118(3):
e914 - e920.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
M. Gabillot-Carre, Y. Lepelletier, M. Humbert, P. de Sepuvelda, N. B. Hamouda, J. P. Zappulla, R. Liblau, A. Ribadeau-Dumas, F. Machavoine, S. Letard, et al.
Rapamycin inhibits growth and survival of D816V-mutated c-kit mast cells
Blood,
August 1, 2006;
108(3):
1065 - 1072.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
C. Robert, L. Delva, N. Balitrand, S. Nahajevszky, T. Masszi, C. Chomienne, and B. Papp
Apoptosis Induction by Retinoids in Eosinophilic Leukemia Cells: Implication of Retinoic Acid Receptor-{alpha} Signaling in All-Trans-Retinoic Acid Hypersensitivity.
Cancer Res.,
June 15, 2006;
66(12):
6336 - 6344.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
Y. Yamada, M. E. Rothenberg, A. W. Lee, H. S. Akei, E. B. Brandt, D. A. Williams, and J. A. 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. Reiter, C. Walz, A. Watmore, C. Schoch, I. Blau, B. Schlegelberger, U. Berger, N. Telford, S. Aruliah, J. A. Yin, et al.
The t(8;9)(p22;p24) Is a Recurrent Abnormality in Chronic and Acute Leukemia that Fuses PCM1 to JAK2
Cancer Res.,
April 1, 2005;
65(7):
2662 - 2667.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
A. D. Klion
Recent Advances in the Diagnosis and Treatment of Hypereosinophilic Syndromes
Hematology,
January 1, 2005;
2005(1):
209 - 214.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
