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Germline L611S mutation in a child with thrombocytosis.

作者信息

Aral Bernard, Courtois Martine, Ragot Sylviane, Bourgeois Valentin, Bottolier-Lemallaz Elodie, Briandet Claire, Girodon François

机构信息

Laboratoire de génétique chromosomique et moléculaire, Pôle Biologie, CHU de Dijon, France.

Service d'Hématologie Biologique, Pôle Biologie, CHU de Dijon, France.

出版信息

Haematologica. 2018 Aug;103(8):e372-e373. doi: 10.3324/haematol.2018.188995. Epub 2018 Mar 22.

DOI:10.3324/haematol.2018.188995
PMID:29567786
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6068025/
Abstract
摘要

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Germline L611S mutation in a child with thrombocytosis.一名血小板增多症患儿的种系L611S突变
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2
Germline JAK2 mutation in a family with hereditary thrombocytosis.一个遗传性血小板增多症家族中的种系JAK2突变
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3
High frequency of the JAK2 V617F mutation in patients with thrombocytosis (platelet count>600x109/L) and ringed sideroblasts more than 15% considered as MDS/MPD, unclassifiable.血小板增多症（血小板计数>600×10⁹/L）且环形铁粒幼细胞超过15%的患者中JAK2 V617F突变频率较高，此类患者被视为无法分类的骨髓增生异常综合征/骨髓增殖性疾病。
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4
Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors.激酶结构域中的种系 JAK2 突变导致遗传性血小板增多症，且对 JAK2 和 HSP90 抑制剂具有抗性。
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Progression to polythythemia vera from familial thrombocytosis with germline JAK2 R867Q mutation.携带种系JAK2 R867Q突变的家族性血小板增多症进展为真性红细胞增多症。
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Refractory anemia with ringed sideroblasts associated with thrombocytosis: comparative analysis of marked with non-marked thrombocytosis, and relationship with JAK2 V617F mutational status.伴有血小板增多症的环形铁粒幼细胞难治性贫血：有明显与无明显血小板增多症的比较分析，以及与JAK2 V617F突变状态的关系
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A typical acute lymphoblastic leukemia JAK2 variant, R683G, causes an aggressive form of familial thrombocytosis when germline.一种典型的急性淋巴细胞白血病JAK2变体，R683G，当为种系突变时会导致侵袭性家族性血小板增多症。
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Thrombocytosis and STAT5 activation in chronic myelogenous leukaemia are not associated with JAK2 V617F or calreticulin mutations.慢性粒细胞白血病中的血小板增多症和STAT5激活与JAK2 V617F或钙网蛋白突变无关。
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Development of refractory anemia with ring sideroblasts associated with thrombocytosis from pre-existing refractory anemia with ring sideroblasts through acquisition of Jak2 V617F mutation.伴有环形铁粒幼细胞的难治性贫血伴血小板增多症从既往存在的伴有环形铁粒幼细胞的难治性贫血通过获得Jak2 V617F突变发展而来。
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JAK2 p.R564 germ line variants associated with hereditary thrombocythemia and hematologic neoplasms.与遗传性血小板增多症和血液系统肿瘤相关的JAK2 p.R564种系变体。
Blood Adv. 2025 Apr 8;9(7):1534-1543. doi: 10.1182/bloodadvances.2024013661.
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A germline exon12 mutation and a late somatic mutation in a patient with essential thrombocythemia.一名原发性血小板增多症患者的生殖系外显子12突变和晚期体细胞突变。
Front Oncol. 2024 Jan 4;13:1265022. doi: 10.3389/fonc.2023.1265022. eCollection 2023.
3
Case report: Double L611S/V617L mutation in a patient with polycythemia vera originally diagnosed with essential thrombocythemia.病例报告：一名最初诊断为原发性血小板增多症的真性红细胞增多症患者存在双L611S/V617L突变。
Front Oncol. 2022 Nov 22;12:937362. doi: 10.3389/fonc.2022.937362. eCollection 2022.
4
Genetic Background of Polycythemia Vera.真性红细胞增多症的遗传背景。
Genes (Basel). 2022 Apr 2;13(4):637. doi: 10.3390/genes13040637.
5
Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.儿童和青少年血小板增多症——分类、诊断方法和临床管理。
Ann Hematol. 2021 Jul;100(7):1647-1665. doi: 10.1007/s00277-021-04485-0. Epub 2021 Mar 12.

本文引用的文献

1
Calreticulin Mutations in Myeloproliferative Neoplasms: Comparison of Three Diagnostic Methods.骨髓增殖性肿瘤中钙网蛋白突变：三种诊断方法的比较
PLoS One. 2015 Oct 26;10(10):e0141010. doi: 10.1371/journal.pone.0141010. eCollection 2015.
2
Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms.全外显子组测序鉴定出三阴性骨髓增殖性肿瘤中的新型MPL和JAK2突变。
Blood. 2016 Jan 21;127(3):325-32. doi: 10.1182/blood-2015-07-661835. Epub 2015 Sep 30.
3
Back to biology: new insights on inheritance in myeloproliferative disorders.回归生物学：骨髓增殖性疾病遗传方面的新见解。
Curr Hematol Malig Rep. 2014 Dec;9(4):311-8. doi: 10.1007/s11899-014-0232-3.
4
Hereditary erythrocytosis, thrombocytosis and neutrophilia.遗传性红细胞增多症、血小板增多症和嗜中性粒细胞增多症。
Best Pract Res Clin Haematol. 2014 Jun;27(2):95-106. doi: 10.1016/j.beha.2014.07.002. Epub 2014 Jul 18.
5
Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors.激酶结构域中的种系 JAK2 突变导致遗传性血小板增多症，且对 JAK2 和 HSP90 抑制剂具有抗性。
Blood. 2014 Feb 27;123(9):1372-83. doi: 10.1182/blood-2013-05-504555. Epub 2014 Jan 7.
6
Detection of JAK2 mutations in paraffin marrow biopsies by high resolution melting analysis: identification of L611S alone and in cis with V617F in polycythemia vera.高分辨率熔解分析检测石蜡骨髓活检中的 JAK2 突变：在真性红细胞增多症中单独检测 L611S 以及与 V617F 顺式存在。
Leuk Lymphoma. 2012 Dec;53(12):2479-86. doi: 10.3109/10428194.2012.697562. Epub 2012 Jul 9.
7
Germline JAK2 mutation in a family with hereditary thrombocytosis.一个遗传性血小板增多症家族中的种系JAK2突变
N Engl J Med. 2012 Mar 8;366(10):967-9. doi: 10.1056/NEJMc1200349.
8
JAK2 mutation and disease phenotype: a double L611V/V617F in cis mutation of JAK2 is associated with isolated erythrocytosis and increased activation of AKT and ERK1/2 rather than STAT5.JAK2突变与疾病表型：JAK2的顺式双L611V/V617F突变与单纯红细胞增多症以及AKT和ERK1/2的激活增加相关，而非STAT5。
Leukemia. 2010 May;24(5):1069-73. doi: 10.1038/leu.2010.23. Epub 2010 Feb 25.
9
JAK mutations in high-risk childhood acute lymphoblastic leukemia.高危儿童急性淋巴细胞白血病中的JAK突变
Proc Natl Acad Sci U S A. 2009 Jun 9;106(23):9414-8. doi: 10.1073/pnas.0811761106. Epub 2009 May 22.
10
The acute lymphoblastic leukemia-associated JAK2 L611S mutant induces tumorigenesis in nude mice.急性淋巴细胞白血病相关的JAK2 L611S突变体在裸鼠中诱导肿瘤发生。
J Biol Chem. 2009 May 8;284(19):12680-90. doi: 10.1074/jbc.M808879200. Epub 2009 Mar 16.