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Published on: January 7, 2019
[Durable efficacity and remission after treatment with imatinib mesylate for FIP1L1-PDGFRA transcript negative
1Département de Médecine Interne-B, Hôpital Militaire D'instruction Med-V, Rabat, Maroc. sekkach@hotmail.com
Insights
Imatinib effectively treated hypereosinophilic syndrome (HES) with dilated cardiomyopathy, even without the FIP1L1-PDGFRA gene. This offers hope for HES patients resistant to initial therapies.
Area of Science:
- Cardiology
- Hematology
- Molecular Biology
Background:
- Hypereosinophilic syndrome (HES) frequently causes cardiac damage, impacting morbidity and mortality.
- Advances in understanding eosinophil expansion and molecular mechanisms enable targeted therapies for HES.
- Deregulated tyrosine kinases, like FIP1L1-PDGFRA, are key in HES pathophysiology, with imatinib showing success in proliferative forms.
Observation:
- A case of dilated cardiomyopathy revealing HES is presented.
- The patient's HES was refractory to first-line treatments.
- Genetic testing for the FIP1L1-PDGFRA fusion gene was negative.
Findings:
- Imatinib, used as second-line therapy, demonstrated dramatic effectiveness.
- The patient showed significant improvement despite the absence of the FIP1L1-PDGFRA fusion gene.
- Cardiac function improved with imatinib treatment.
Implications:
- Imatinib mesylate may be a valuable therapeutic option for HES cases resistant to first-line treatments, irrespective of the FIP1L1-PDGFRA fusion gene status.
- Clinical outcomes in HES, particularly cardiac effects, can be severe and are not always correlated with eosinophil levels or specific molecular causes.
- This case expands the potential utility of imatinib in managing complex HES cases with cardiac involvement.
Introduction:
The cardiac involvement in hypereosinophilia remains a major cause of morbidity and mortality. Recent advances have identified new molecular mechanisms responsible for the expansion of the eosinophilic lineage, allowing a better classification of the different forms of Hypereosinophilic syndrome (HES) and especially targeted therapy. Since the discovery of the involvement of deregulated tyrosine kinases in the pathophysiology of these diseases, and particularly the identification of the fusion gene FIP1L1-PDGFRA, new molecules inhibiting specifically this signaling pathway (imatinib) were individualized, leading to dramatic therapeutic benefits in proliferative forms of HES considered before that of very poor prognosis.
Case Report:
We report here the dramatic effectiveness of imatinib used as second line therapy for dilated cardiomyopathy revealing a hypereosinophilic syndrome in a patient in whom the search for FIP1-L1-PDGFRA fusion gene was negative.
Conclusion:
If hypereosinophilia has varied clinical and morphological outcome, its clinical consequences, particularly on heart function, are sometimes dreadful, and are not correlated either with blood eosinophil levels or with a specific etiology. We report here a case of HES lacking the FIP1-L1-PDGFRA fusion gene showing that despite the absence of this molecular defect, imatinib mesylate may have therapeutic interest in those cases of HES resistant to first line therapies.
