伴BCR::ABL1 e6a2融合基因慢性髓性白血病1例报告并文献复习  

Chronic myeloid leukemia with e6a2 fusion gene: a case report and literature review

作　　者：李静静 岳玲玲[1] 曾鹏云[1] 吴重阳[1] 陈慧玲[1] Li Jingjing;Yue Lingling;Zeng Pengyun;Wu Chongyang;Chen Huiling(Department of Hematology,the Second Hospital of Lanzhou University,Lanzhou 730030,China)

机构地区：[1]兰州大学第二医院血液科,兰州730030

出　　处：《中华血液学杂志》2024年第3期299-302,共4页Chinese Journal of Hematology

基　　金：甘肃省科技计划项目(创新基地和人才计划)(自然科学基金)(21JR1RA137)。

摘　　要：e6a2转录本类型的慢性髓性白血病(CML)临床上非常罕见,通常与疾病的侵袭有关,其临床特点及与酪氨酸激酶抑制剂疗效间的关系尚不明确。本文通过回顾性分析1例以全身多发溶骨性骨质破坏并胃肠道、淋巴结等多器官嗜酸性粒细胞浸润为特征的e6a2融合基因阳性CML患者的临床特点及相关实验室检查,并进行相关文献复习。该患者Ph染色体阳性,伴+8染色体,CML常见BCR::ABL1转录本均阴性,但通过RT-PCR检测出e6a2转录本阳性表达,予以达沙替尼100 mg/d治疗,3个月后复查达到了完全血液学反应、完全细胞遗传学反应及分子学反应4.0。e6a2转录本在临床上非常罕见,需研究更多e6a2转录本的病例以明确其临床特点,并改善这些罕见病例的治疗效果。Chronic myeloid leukemia(CML)with e6a2 transcript type is very rare in clinic,which is usually related to disease aggressiveness.Its clinical characteristics and relationship with tyrosine kinase inhibitor efficacy are still unclear.In this paper,the clinical characteristics and related laboratory tests of a patient with e6a2 fusion gene positive CML characterized by multiple osteolytic bone destruction throughout the body and eosinophil infiltration in gastrointestinal tract,lymph nodes and other organs were retrospectively analyzed,and the relevant literature was reviewed.The patient was Ph chromosome positive with chromosome+8,and the common BCR::ABL1 transcript of CML was negative,but e6a2 transcript was positive detected by RT-PCR.The patient was treated with dasatinib 100 mg/d.Three months later,the patients achieved CHR,CCyR and MR4.0.However,the e6a2 transcript is very rare in clinical practice,and more cases of e6a2 transcript need to be studied to clarify its clinical characteristics and improve the treatment effect of these rare cases.

关 键 词：罕见病例 慢性髓性白血病 达沙替尼 溶骨性骨质破坏 临床特点 酪氨酸激酶抑制剂 融合基因 阳性表达 

分 类 号：R73[医药卫生—肿瘤]