CAJ | 학술논문

目的探讨1例罕见的CEP110-FGFR1融合基因阳性的8p11骨髓增殖综合征(myeloproliferative syndrome,EMS)的临床及实验室特征.方法综合应用骨髓细胞学检查、荧光原位杂交、融合基因检测等方法对患者进行检查.结果患者的临床特征主要为外周血白细胞计数明显升高、髓系高度增生、单核细胞增多及病态造血等.实验发现其8号染色体短臂受累.荧光原位杂交显示FGFR1基因重排.RT-PCR证实其为CEP110-FGFR1融合基因阳性.结论伴CEP110-FGFR1阳性的EMS患者具有独特的临床及实验室特征.细胞遗传学及分子生物学检查有助于早期诊断.
목적 탐토1례한견적CEP110-FGFR1융합기인양성적8p11골수증식종합정(myeloproliferative syndrome,EMS)적림상급실험실특정.방법 종합응용골수세포학검사、형광원위잡교、융합기인검측등방법대환자진행검사.결과 환자적림상특정주요위외주혈백세포계수명현승고、수계고도증생、단핵세포증다급병태조혈등.실험발현기8호염색체단비수루.형광원위잡교현시FGFR1기인중배.RT-PCR증실기위CEP110-FGFR1융합기인양성.결론 반CEP110-FGFR1양성적EMS환자구유독특적림상급실험실특정.세포유전학급분자생물학검사유조우조기진단.
Objective To explore the clinical and laboratory features of a patient with 8p11 myeloproliferative syndrome (EMS) and CEP110-FGFR1 fusion.Methods Combined bone marrow cytology, fluorescence in situ hybridization, fusion gene detection was used to analyze the patient.Results Clinically, the patient had many features similar to those with chronic myelomonocytic leukemia, which included hyperleukocytosis, marked eosinophilia, monocytosis, myeloid hyperplasia and hyperplasia.Fluorescence in situ hybridization analysis for FGFR1 gene rearrangement was positive.Further study of the mRNA also confirmed an in-frame fusion between exon 38 of the CEP110 gene and exon 9 of FGFR1 gene.Conclusion EMS with CEP110-FGFR1 fusion is a very rare and distinct myeloproliferative neoplasm.FISH and molecular studies may improve its diagnosis.