Vigna Ernesto, Lucia Eugenio, Gentile Massimo, Mazzone Carla, Bisconte Maria Grazia, Gentile Carlo, Armentano Antonio, Ottaviani Emanuela, Rondoni Michela, Martinelli Giovanni, Morabito Fortunato
Unità Operativa di Ematologia Medicine, Cosenza, Italy.
Cancer Chemother Pharmacol. 2008 Apr;61(4):713-6. doi: 10.1007/s00280-007-0507-7. Epub 2007 Jun 5.
The fusion protein between the platelet-derived growth factor receptor alpha (PDGFRalpha, P) gene and the Fip1-like1 (FIP1L1, F) may be identified in 14 to 60% of HES and it indicates a clonal hypereosinophilic syndrome called F/P-positive CEL. We herein report a case of F/P-positive CEL with retro-orbital localization, who was successfully treated with imatinib.
A 53-year-old male presented an absolute eosinophil count of 25,000/mm(3), anemia (Hb 10.2 g/dl) and a moderate increase in the platelet count (571,000/mm(3)). A clinical examination revealed left exophthalm, associated with diffuse hypoesthesia and diplopia. A CT scan of orbits showed a lesion located in the lachrymal fossa of the left orbit with intra- and extra-conical extension. Molecular analysis excluded the presence of bcr/abl transcript while a F/P fusion tyrosine kinase signal was documented. Imatinib mesylate (IM) was started and, after 7 days of treatment eosinophil count significantly declined along with a dramatic reduction of the left exophthalm. IM dosage was increased up to 300 mg/day. The drug was well tolerated with an initial modest haematological toxicity. The left exophthalm, as well as hypoesthesia and diplopia, disappeared after IM therapy. MRI showed a clear reduction of the intra- and extra-conical growth process. BM molecular signal of the F/P fusion gene resulted undetectable after 4 weeks of treatment.
In our case, the diagnosis of FIPIL1-PDGFRA-positive CEL and IM therapy has allowed the patient to experience an excellent clinical therapeutic result, avoiding surgical treatment of the retro-orbital mass.
血小板衍生生长因子受体α（PDGFRα，P）基因与Fip1样1（FIP1L1，F）之间的融合蛋白可在14%至60%的高嗜酸性粒细胞综合征（HES）中被检测到，它提示一种称为F/P阳性慢性嗜酸性粒细胞白血病（CEL）的克隆性嗜酸性粒细胞增多综合征。我们在此报告一例眼眶后定位的F/P阳性CEL病例，该患者接受伊马替尼治疗成功。
一名53岁男性，绝对嗜酸性粒细胞计数为25,000/mm³，贫血（血红蛋白10.2 g/dl），血小板计数中度升高（571,000/mm³）。临床检查发现左眼突出，伴有弥漫性感觉减退和复视。眼眶CT扫描显示左侧眼眶泪囊窝有一病变，呈圆锥内和圆锥外扩展。分子分析排除了bcr/abl转录本的存在，同时记录到F/P融合酪氨酸激酶信号。开始使用甲磺酸伊马替尼（IM），治疗7天后嗜酸性粒细胞计数显著下降，同时左眼突出明显减轻。IM剂量增加至300 mg/天。该药物耐受性良好，初始有轻度血液学毒性。IM治疗后左眼突出、感觉减退和复视均消失。MRI显示圆锥内和圆锥外生长过程明显缩小。治疗4周后，F/P融合基因的骨髓分子信号检测不到。
在我们的病例中，FIPIL1-PDGFRA阳性CEL的诊断和IM治疗使患者获得了极佳的临床治疗效果，避免了眼眶后肿物的手术治疗。
