Chalayer Emilie, Pelissier Aude, Tardy Bernard
Intensive care unit, CHU Saint Etienne, Hopital Nord, 42055 Saint Etienne, France.
Clinical Investigation Center - CIC 1408, CHU Saint Etienne, France.
Eur J Case Rep Intern Med. 2017 Apr 3;4(6):000614. doi: 10.12890/2017_000614. eCollection 2017.
AFIP1L1-PDGFRA fusion can only be confirmed through molecular and cytogenetic investigations causing a delay in the diagnosis. However, patients with this mutation need urgent treatment because they present hypereosinophilia which may be associated with short-term tissue damage. Thromboembolism is a known cause of death in hypereosinophilic syndrome. A case of Loeffler endocarditis due to FIP1L1-PDGFRA-associated chronic eosinophilic leukemia presenting hemiparesis with fever, which also mislead the initial diagnosis, is reported.
FIP1L1-PDGFRA fusion occurs in 10% of patients with idiopathic hypereosinophilia.Thromboembolism is a known cause of death in hypereosinophilia.The prognosis of FIP1L1-PDGFRA-associated chronic eosinophilic leukemia has been profoundly changed by imatinib treatment.
AFIP1L1 - PDGFRA融合只能通过分子和细胞遗传学研究来确认，这会导致诊断延迟。然而，携带这种突变的患者需要紧急治疗，因为他们表现出高嗜酸性粒细胞增多，这可能与短期组织损伤有关。血栓栓塞是嗜酸性粒细胞增多综合征已知的死亡原因。本文报告了一例因FIP1L1 - PDGFRA相关慢性嗜酸性粒细胞白血病导致的吕弗勒心内膜炎，患者出现偏瘫伴发热，这也误导了最初的诊断。
FIP1L1 - PDGFRA融合发生在10%的特发性高嗜酸性粒细胞增多症患者中。血栓栓塞是嗜酸性粒细胞增多症已知的死亡原因。伊马替尼治疗已深刻改变了FIP1L1 - PDGFRA相关慢性嗜酸性粒细胞白血病的预后。
