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Calreticulin Mutation Survey by High Resolution Melting Method Associated with Unique Presentations in Essential Thrombocythemic Patients.

作者信息

Liu Yi-Chang, Lee Ching-Ping, Yeh Tsung-Jang, Gau Yuh-Ching, Hsieh Chieh-Yu, Ke Ya-Lun, Du Jeng-Shiun, Lin Ming-Hui, Wang Hui-Ching, Tang Shih-Hao, Cho Shih-Feng, Hsiao Chi-En, Hsu Jui-Feng, Hsiao Samuel Yien, Hsu Chin-Mu, Hsiao Hui-Hua

机构信息

Division of Hematology and Oncology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.

Faculty of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.

出版信息

Mediterr J Hematol Infect Dis. 2020 May 1;12(1):e2020022. doi: 10.4084/MJHID.2020.022. eCollection 2020.

DOI:10.4084/MJHID.2020.022
PMID:32395211
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7202346/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f32f/7202346/67fea47c93f7/mjhid-12-1-e2020022f1b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f32f/7202346/14df0683d408/mjhid-12-1-e2020022f1a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f32f/7202346/67fea47c93f7/mjhid-12-1-e2020022f1b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f32f/7202346/14df0683d408/mjhid-12-1-e2020022f1a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f32f/7202346/67fea47c93f7/mjhid-12-1-e2020022f1b.jpg

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Calreticulin Mutation Survey by High Resolution Melting Method Associated with Unique Presentations in Essential Thrombocythemic Patients.采用高分辨率熔解法对钙网蛋白突变进行的调查与原发性血小板增多症患者的独特表现相关。
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Frequent CALR exon 9 alterations in JAK2 V617F-mutated essential thrombocythemia detected by high-resolution melting analysis.通过高分辨率熔解分析在JAK2 V617F突变的原发性血小板增多症中检测到频繁的CALR外显子9改变。
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Calreticulin mutation burden--is it a stable clone in patients with essential thrombocythemia and myelofibrosis?钙网蛋白突变负荷——它在原发性血小板增多症和骨髓纤维化患者中是一个稳定的克隆吗？
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本文引用的文献

1
Detection of Mutations Using High Resolution Melting Curve Analysis (HRM-A); Application on a Large Cohort of Greek ET and MF Patients.使用高分辨率熔解曲线分析（HRM-A）检测突变；在大量希腊真性红细胞增多症和原发性骨髓纤维化患者队列中的应用
Mediterr J Hematol Infect Dis. 2019 Jan 1;11(1):e2019009. doi: 10.4084/MJHID.2019.009. eCollection 2019.
2
The JAK2V617F Point Mutation Increases the Osteoclast Forming Ability of Monocytes in Patients with Chronic Myeloproliferative Neoplasms and Makes their Osteoclasts more Susceptible to JAK2 Inhibition.JAK2V617F点突变增加了慢性骨髓增殖性肿瘤患者单核细胞的破骨细胞形成能力，并使他们的破骨细胞对JAK2抑制更敏感。
Mediterr J Hematol Infect Dis. 2018 Nov 1;10(1):e2018058. doi: 10.4084/MJHID.2018.058. eCollection 2018.
3
Mutational subtypes of JAK2 and CALR correlate with different clinical features in Japanese patients with myeloproliferative neoplasms.在日本骨髓增殖性肿瘤患者中，JAK2和CALR的突变亚型与不同的临床特征相关。
Int J Hematol. 2018 Jun;107(6):673-680. doi: 10.1007/s12185-018-2421-7. Epub 2018 Feb 20.
4
CALR mutational status identifies different disease subtypes of essential thrombocythemia showing distinct expression profiles.CALR 突变状态可识别出表现出不同表达谱的不同原发性骨髓纤维化疾病亚型。
Blood Cancer J. 2017 Dec 8;7(12):638. doi: 10.1038/s41408-017-0010-2.
5
, , and mutational status correlates with distinct histological features in Philadelphia chromosome-negative myeloproliferative neoplasms.JAK2、CALR、MPL和NRAS突变状态与费城染色体阴性骨髓增殖性肿瘤的不同组织学特征相关。
Haematologica. 2018 Feb;103(2):e63-e68. doi: 10.3324/haematol.2017.178988. Epub 2017 Nov 16.
6
Comparative study of different methodologies to detect the V617F mutation in chronic BCR-ABL1 negative myeloproliferative neoplasms.检测慢性BCR-ABL1阴性骨髓增殖性肿瘤中V617F突变的不同方法的比较研究
Pract Lab Med. 2015 Dec 14;4:30-37. doi: 10.1016/j.plabm.2015.12.004. eCollection 2016 Apr 1.
7
Calreticulin Mutations in Bulgarian MPN Patients.保加利亚骨髓增殖性肿瘤患者中的钙网蛋白突变
Pathol Oncol Res. 2018 Jan;24(1):171-174. doi: 10.1007/s12253-017-0226-2. Epub 2017 Apr 14.
8
A novel molecular assay using hybridisation probes and melt curve analysis for exon 9 mutation detection in myeloproliferative neoplasms.一种使用杂交探针和熔解曲线分析检测骨髓增殖性肿瘤中外显子9突变的新型分子检测方法。
J Clin Pathol. 2017 Aug;70(8):662-668. doi: 10.1136/jclinpath-2016-204205. Epub 2017 Jan 31.
9
Molecular testing for JAK2, MPL, and CALR in myeloproliferative neoplasms.对骨髓增殖性肿瘤中的 JAK2、MPL 和 CALR 进行分子检测。
Am J Hematol. 2016 Dec;91(12):1277-1280. doi: 10.1002/ajh.24578.
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Detection of JAK2 Exon 12 Mutations in JAK2 V617F-Negative Polycythemia Vera Patients by Cloning Technique.采用克隆技术检测JAK2 V617F阴性真性红细胞增多症患者的JAK2外显子12突变
Acta Haematol. 2016;136(2):123-8. doi: 10.1159/000446798. Epub 2016 Jul 14.