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戈谢病与慢性髓性白血病：首例同时接受酶替代疗法和酪氨酸激酶抑制剂治疗的患者报道。

Gaucher disease and chronic myeloid leukemia: first reported patient receiving enzyme replacement and tyrosine kinase inhibitor therapies simultaneously.

作者信息

Noya MSoledad, Andrade-Campos Marcio, Irun Pilar, López de Frutos Laura, López-Fernandez MFernanda, Giraldo Pilar

机构信息

Department of Hematology CHUAC A Coruña Spain.

Translational Research Unit Miguel Servet University Hospital IIS-Aragon Zaragoza Spain.

出版信息

Clin Case Rep. 2018 Mar 15;6(5):887-892. doi: 10.1002/ccr3.1460. eCollection 2018 May.

DOI:10.1002/ccr3.1460
PMID:29744080
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5930224/
Abstract

Report a female diagnosed as type 1 Gaucher disease after a femoral pathologic fracture when she was 55 years old. Enzyme replacement therapy was started, and she achieved therapeutic goals. In 2015, a Ph' CML with numerous pseudo-Gaucher cells in bone marrow appears. BCR/ABL was not present at GD diagnosis.

摘要

报告一名55岁女性，因股骨病理性骨折被诊断为1型戈谢病。开始进行酶替代治疗后，她达到了治疗目标。2015年，出现了骨髓中有大量假戈谢细胞的Ph' 慢性粒细胞白血病。在戈谢病诊断时未检测到BCR/ABL。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cafb/5930224/9f88e15b1bb8/CCR3-6-887-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cafb/5930224/0f863520b59f/CCR3-6-887-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cafb/5930224/25a6f88d417d/CCR3-6-887-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cafb/5930224/9f88e15b1bb8/CCR3-6-887-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cafb/5930224/0f863520b59f/CCR3-6-887-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cafb/5930224/25a6f88d417d/CCR3-6-887-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cafb/5930224/9f88e15b1bb8/CCR3-6-887-g003.jpg

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本文引用的文献

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Understanding the natural history of Gaucher disease.了解戈谢病的自然史。
Am J Hematol. 2015 Jul;90 Suppl 1:S6-11. doi: 10.1002/ajh.24055.
2
Gaucher disease and comorbidities: B-cell malignancy and parkinsonism.戈谢病及其合并症：B 细胞恶性肿瘤和帕金森病。
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Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial.依利格鲁司他与伊米苷酶治疗稳定的 1 型戈谢病患者的比较：一项 3 期、随机、开放标签、非劣效性试验。
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Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature.戈谢氏病中的恶性肿瘤和单克隆丙种球蛋白病；文献系统综述。
Br J Haematol. 2013 Jun;161(6):832-42. doi: 10.1111/bjh.12335. Epub 2013 Apr 18.
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Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism.戈谢病与恶性肿瘤：一种先天性代谢缺陷中的癌症发病机制模型。
Crit Rev Oncog. 2013;18(3):235-46. doi: 10.1615/critrevoncog.2013006145.
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