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以罕见的CCT6B突变为特征且对酪氨酸激酶抑制有反应的嗜酸性粒细胞增多症:病例报告及文献综述

Eosinophilia characterized by a rare CCT6B mutation and responsive to tyrosine kinase inhibition: Case report and literature review.

作者信息

Singh Abhay, Baron Jeffrey, Singh Namrata, Peringeth Gopisree, Wang Eunice S

机构信息

Department of Medicine, Section of Hematology, Roswell Park Comprehensive Cancer Centre, Buffalo, United States of America.

Cleveland Clinic Foundation, Cleveland, Ohio, United States of America.

出版信息

Leuk Res Rep. 2021 Nov 2;16:100279. doi: 10.1016/j.lrr.2021.100279. eCollection 2021.

Abstract

Hypereosinophilic syndrome is a rare disorder arising from neoplastic, or idiopathic causes. The availability of NGS panels has increasingly identified rare mutations as underlying pathogenic events and have led to reclassification of cases of idiopathic hypereosinophilic syndrome as chronic eosinophilic leukemia(CEL). In this report, we describe a case of a young man with hypereosinophilia whose disease initially did not fit the WHO criteria for CEL but harbored a rare mutation in gene. We report our experience in successfully treating this patient with multiple tyrosine kinase inhibitors and provide literature review of this rare entity including potential treatment strategies.

摘要

高嗜酸性粒细胞综合征是一种由肿瘤性或特发性原因引起的罕见疾病。二代测序(NGS)检测板的应用越来越多地发现罕见突变是潜在的致病因素,并导致特发性高嗜酸性粒细胞综合征病例被重新分类为慢性嗜酸性粒细胞白血病(CEL)。在本报告中,我们描述了一例患有高嗜酸性粒细胞增多症的年轻男性病例,其疾病最初不符合世界卫生组织(WHO)的CEL标准,但在某基因中存在罕见突变。我们报告了成功使用多种酪氨酸激酶抑制剂治疗该患者的经验,并对这一罕见疾病进行了文献综述,包括潜在的治疗策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9e71/8602046/d7a801b304d7/gr1.jpg

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