PMID- 15284118
OWN - NLM
STAT- MEDLINE
DCOM- 20041223
LR  - 20220321
IS  - 0006-4971 (Print)
IS  - 0006-4971 (Linking)
VI  - 104
IP  - 10
DP  - 2004 Nov 15
TI  - FIP1L1-PDGFRA fusion: prevalence and clinicopathologic correlates in 89 
      consecutive patients with moderate to severe eosinophilia.
PG  - 3038-45
AB  - A novel oncogenic mutation (FIP1L1-PDGFRA), which results in a constitutively 
      activated platelet-derived growth factor receptor-alpha (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 10(9)/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.
FAU - Pardanani, Animesh
AU  - Pardanani A
AD  - Division of Hematology and Internal Medicine, Laboratory Geentics and Hematology, 
      Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA.
FAU - Brockman, Stephanie R
AU  - Brockman SR
FAU - Paternoster, Sarah F
AU  - Paternoster SF
FAU - Flynn, Heather C
AU  - Flynn HC
FAU - Ketterling, Rhett P
AU  - Ketterling RP
FAU - Lasho, Terra L
AU  - Lasho TL
FAU - Ho, Ching-Liang
AU  - Ho CL
FAU - Li, Chin-Yang
AU  - Li CY
FAU - Dewald, Gordon W
AU  - Dewald GW
FAU - Tefferi, Ayalew
AU  - Tefferi A
LA  - eng
PT  - Journal Article
DEP - 20040729
PL  - United States
TA  - Blood
JT  - Blood
JID - 7603509
RN  - 0 (Antineoplastic Agents)
RN  - 0 (Benzamides)
RN  - 0 (CHIC2 protein, human)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (Piperazines)
RN  - 0 (Pyrimidines)
RN  - 0 (Transcription Factors)
RN  - 0 (mRNA Cleavage and Polyadenylation Factors)
RN  - 8A1O1M485B (Imatinib Mesylate)
RN  - EC 2.7.10.1 (FIP1L1-PDGFRA fusion protein, human)
RN  - EC 2.7.10.1 (Receptor, Platelet-Derived Growth Factor alpha)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Antineoplastic Agents/administration & dosage
MH  - Benzamides
MH  - Bone Marrow/pathology
MH  - Cohort Studies
MH  - DNA-Binding Proteins/genetics
MH  - Eosinophilia/drug therapy/*epidemiology/*genetics/pathology
MH  - Female
MH  - Gene Deletion
MH  - Humans
MH  - Imatinib Mesylate
MH  - Incidence
MH  - Male
MH  - Middle Aged
MH  - Oncogene Proteins, Fusion
MH  - Piperazines/administration & dosage
MH  - Prevalence
MH  - Pyrimidines/administration & dosage
MH  - Receptor, Platelet-Derived Growth Factor alpha/*genetics
MH  - Severity of Illness Index
MH  - Transcription Factors/genetics
MH  - mRNA Cleavage and Polyadenylation Factors/*genetics
EDAT- 2004/07/31 05:00
MHDA- 2004/12/24 09:00
CRDT- 2004/07/31 05:00
PHST- 2004/07/31 05:00 [pubmed]
PHST- 2004/12/24 09:00 [medline]
PHST- 2004/07/31 05:00 [entrez]
AID - S0006-4971(20)55856-4 [pii]
AID - 10.1182/blood-2004-03-0787 [doi]
PST - ppublish
SO  - Blood. 2004 Nov 15;104(10):3038-45. doi: 10.1182/blood-2004-03-0787. Epub 2004 
      Jul 29.