CAJ | 학술논문

目的提高对慢性嗜酸细胞白血病(CEL)的认识水平.方法报告1例伴t(5;12)(q31;p13),FIP1样基因1(FIP1L1)血小板衍化生长因子(PDGFRα)(-)CEL的诊治过程.外周血及胸腔积液细胞的免疫表型采用流式细胞术(FCM)分析,染色体采用G显带分析,FIP1L1/PDGFRα融合基因表达采用RT-PCR技术检测,骨髓、肺及脾组织行常规病理学检查.结果 1例16岁女性患者严重贫血、发热、脾大、血小板减少、嗜酸细胞显著增高,持续22个月.骨髓嗜酸细胞浸润伴纤维化改变;肺和脾组织均呈嗜酸细胞浸润,伴脾栓塞.克隆性染色体异常为t(5;12)(q31;p13),不表达FIP1L1/PDGFRα融合基因.外周血及胸腔积液细胞中除大量嗜酸细胞外,CD3-、CD4-、CD8+异常T淋巴细胞分别占淋巴细胞总数的5.43%和1.66%.患者对羟基脲、泼尼松、干扰素和甲磺酸伊马替尼(400 ms/d共40 d)治疗无效,小剂量阿糖胞苷、米托蒽醌、长春新碱、环磷酰胺、甲氨蝶呤、泼尼松等联合化疗仅有短期效果.患者最终死于心、肺、肝、肾多脏器功能衰竭.结论本例FIP1L1/PDGFRα(-)CEL符合WHO诊断标准,对多种药物及甲磺酸伊马替尼治疗无效,应在疾病早期尽早争取造血干细胞移植.CD3-、CD4-、CD8+克隆性T细胞异常与CEL发病的关系值得关注.
목적 제고대만성기산세포백혈병(CEL)적인식수평.방법 보고1례반t(5;12)(q31;p13),FIP1양기인1(FIP1L1)혈소판연화생장인자(PDGFRα)(-)CEL적진치과정.외주혈급흉강적액세포적면역표형채용류식세포술(FCM)분석,염색체채용G현대분석,FIP1L1/PDGFRα융합기인표체채용RT-PCR기술검측,골수、폐급비조직행상규병이학검사.결과 1례16세녀성환자엄중빈혈、발열、비대、혈소판감소、기산세포현저증고,지속22개월.골수기산세포침윤반섬유화개변;폐화비조직균정기산세포침윤,반비전새.극륭성염색체이상위t(5;12)(q31;p13),불표체FIP1L1/PDGFRα융합기인.외주혈급흉강적액세포중제대량기산세포외,CD3-、CD4-、CD8+이상T림파세포분별점림파세포총수적5.43%화1.66%.환자대간기뇨、발니송、간우소화갑광산이마체니(400 ms/d공40 d)치료무효,소제량아당포감、미탁은곤、장춘신감、배린선알、갑안접령、발니송등연합화료부유단기효과.환자최종사우심、폐、간、신다장기공능쇠갈.결론 본례FIP1L1/PDGFRα(-)CEL부합WHO진단표준,대다충약물급갑광산이마체니치료무효,응재질병조기진조쟁취조혈간세포이식.CD3-、CD4-、CD8+극륭성T세포이상여CEL발병적관계치득관주.
Objective To deepen the understanding of chronic eosinophilic leukemia (CEL).Methods The course of diagnosis and treatment in a case of FIP1L1/PDGFRα fusion gene negative CEL was reported. Flow cytometry was used to analyze the immunophenotype of the cells in peripheral blood and pleural fluid. Karyotype was analyzed with G-banding. The expression of FIP1L1/PDGFRα fusion gene was detected by RT-PCR technique. Routine pathological examination of the tissues from bone marrow, lung and spleen were performed. Result A sixteen-year-old girl had severe anemia, fever, splenomegaly,thrombocytopenia and dominant hypereosinophilia lasting for 22 months. Trephine biopsy showed a hypercellular marrow with eosinophilic proliferation and moderate reticular fibrosis. Eosinophilic infiltration was found in lung and spleen and embolism was also found in spleen. She had a clonal chromosomal abnormality t(5;12)(q31;p13). The expression of FIP1L1/PDGFRα was negative. An abnormal clone of T cells expressing CD3-,CD4-,CD8- was found in peripheral blood and pleural fluid, in which the cional T cell accounted for 5.43% and 1.66% of the total lymphocytes respectively. The patient was refractory to treatment with hydroxyurea, prednisone and interferon alpha. She had poor response to a combination of therapy with low dose cytosine arabinoside, mitoxantrone, vincristine, cyclophosphamide, methotrexate and prednisone. She did not respond to imatinib and died of multiple organ failure. Conclusion The present case fulfilled the WHO diagnostic criteria of FIP1L1/PDGFRα(-) CEL which did not respond to routine treatment and imatinib. Allogenic stem cell transplantation should be considered as early as possible in this case. It is noteworthy that clonal CD3-,CD4-,CD8- T-cell abnormality is related to the pathogenesis of CEL.