PMID- 27164940
OWN - NLM
STAT- MEDLINE
DCOM- 20170822
LR  - 20170822
IS  - 1423-0356 (Electronic)
IS  - 0025-7931 (Linking)
VI  - 91
IP  - 5
DP  - 2016
TI  - Severe Prolonged Cough as Presenting Manifestation of FIP1L1-PDGFRA+ Chronic 
      Eosinophilic Leukaemia: A Widely Ignored Association.
PG  - 374-9
LID - 10.1159/000446076 [doi]
AB  - Chronic eosinophilic leukaemia associated with the FIP1L1-PDGFRA fusion gene 
      (F/P+ CEL) is a rare cause of marked persistent hypereosinophilia, arising almost 
      exclusively in male patients. Clinical presentations are heterogeneous with a 
      higher incidence of eosinophil-mediated cardiomyopathy than in other 
      hypereosinophilic syndrome variants. Features of chronic myeloproliferative 
      disease are often present, including splenomegaly and elevated serum vitamin B12 
      levels. The diagnosis is made by fluorescence in situ hybridization (FISH) 
      showing the deletion of the CHIC2 locus and/or RT-PCR showing the FIP1L1-PDGFRA 
      fusion transcript. Treatment with imatinib mesylate, a tyrosine kinase inhibitor, 
      results in rapid and complete resolution of hypereosinophilia and associated 
      symptoms, except for those related to sub-endocardial fibrosis that may be 
      irreversible. We report the case of a male patient in whom isolated intractable 
      cough remained the only clinical manifestation of F/P+ CEL for 4 years. 
      Furthermore, eosinophil autofluorescence, an as yet unreported artefact in this 
      setting, precluded the detection of the CHIC2 deletion and further delayed 
      diagnosis, underlining that both FISH and RT-PCR should be performed when this 
      disease is suspected.
CI  - (c) 2016 S. Karger AG, Basel.
FAU - Roufosse, Florence
AU  - Roufosse F
AD  - Department of Internal Medicine, Hx00F4;pital Erasme, Universitx00E9; Libre de 
      Bruxelles, Brussels, Belgium.
FAU - Heimann, Pierre
AU  - Heimann P
FAU - Lambert, Frederic
AU  - Lambert F
FAU - Sidon, Pierre
AU  - Sidon P
FAU - Bron, Dominique
AU  - Bron D
FAU - Cottin, Vincent
AU  - Cottin V
FAU - Cordier, Jean-Francois
AU  - Cordier JF
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20160512
PL  - Switzerland
TA  - Respiration
JT  - Respiration; international review of thoracic diseases
JID - 0137356
RN  - 0 (Antineoplastic Agents)
RN  - 0 (CHIC2 protein, human)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (FIP1L1 protein, human)
RN  - 0 (Transcription Factors)
RN  - 0 (mRNA Cleavage and Polyadenylation Factors)
RN  - 8A1O1M485B (Imatinib Mesylate)
RN  - EC 2.7.10.1 (Receptor, Platelet-Derived Growth Factor alpha)
RN  - Pdgfra-Associated Chronic Eosinophilic Leukemia
SB  - IM
MH  - Aged
MH  - Antineoplastic Agents/therapeutic use
MH  - Chronic Disease
MH  - Cough/*diagnosis/etiology
MH  - DNA-Binding Proteins/genetics
MH  - Delayed Diagnosis
MH  - Diagnosis, Differential
MH  - Gene Fusion
MH  - Humans
MH  - Hypereosinophilic Syndrome/complications/*diagnosis/drug therapy/genetics
MH  - Imatinib Mesylate/therapeutic use
MH  - In Situ Hybridization, Fluorescence
MH  - Leukemia/complications/*diagnosis/drug therapy/genetics
MH  - Lung/diagnostic imaging
MH  - Male
MH  - Real-Time Polymerase Chain Reaction
MH  - Receptor, Platelet-Derived Growth Factor alpha/genetics
MH  - Tomography, X-Ray Computed
MH  - Transcription Factors/genetics
MH  - mRNA Cleavage and Polyadenylation Factors/genetics
EDAT- 2016/05/12 06:00
MHDA- 2017/08/23 06:00
CRDT- 2016/05/12 06:00
PHST- 2016/02/11 00:00 [received]
PHST- 2016/04/11 00:00 [accepted]
PHST- 2016/05/12 06:00 [entrez]
PHST- 2016/05/12 06:00 [pubmed]
PHST- 2017/08/23 06:00 [medline]
AID - 000446076 [pii]
AID - 10.1159/000446076 [doi]
PST - ppublish
SO  - Respiration. 2016;91(5):374-9. doi: 10.1159/000446076. Epub 2016 May 12.