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Clinical utility gene card for: hereditary thrombocythemia.

作者信息

Hussein Kais, Percy Melanie, McMullin Mary Frances, Schwarz Jiří, Schnittger Susanne, Porret Naomi, Martinez-Aviles Luz Maria, Paricio Beatriz Bellosillo, Giraudier Stéphane, Skoda Radek, Lippert Eric, Hermouet Sylvie, Cario Holger

机构信息

Institute of Pathology, Hannover Medical School, Hannover, Germany.

Department of Hematology, Belfast City Hospital, Belfast, UK.

出版信息

Eur J Hum Genet. 2014 Feb;22(2). doi: 10.1038/ejhg.2013.117. Epub 2013 Jun 5.

DOI:10.1038/ejhg.2013.117
PMID:23736217
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3895637/
Abstract
摘要

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Clinical utility gene card for: hereditary thrombocythemia.遗传性血小板增多症临床实用基因卡
Eur J Hum Genet. 2014 Feb;22(2). doi: 10.1038/ejhg.2013.117. Epub 2013 Jun 5.
2
Thrombocytosis and thrombosis.血小板增多症与血栓形成。
Hematology Am Soc Hematol Educ Program. 2007:363-70. doi: 10.1182/asheducation-2007.1.363.
3
[Thrombocytosis and essential thrombocythemia in childhood].[儿童血小板增多症与原发性血小板增多症]
Arch Pediatr. 2005 Aug;12(8):1249-54. doi: 10.1016/j.arcped.2005.04.072.
4
Genetic background of thrombocytosis in mice mimicking hereditary thrombocytosis in humans.
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5
Absence of a specific chromosomal marker in essential thrombocythemia.
Cancer Genet Cytogenet. 1984 Jun;12(2):163-5. doi: 10.1016/0165-4608(84)90128-6.
6
[Investigation and management of patients presenting with thrombocytosis].[血小板增多症患者的调查与管理]
Rev Med Interne. 2013 Aug;34(8):465-71. doi: 10.1016/j.revmed.2013.02.020. Epub 2013 Mar 14.
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A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family.血小板生成素基因中的一个新生剪接受体突变导致一个波兰家族出现遗传性血小板增多症。
Haematologica. 2008 May;93(5):706-14. doi: 10.3324/haematol.11801. Epub 2008 Mar 26.
8
[Evaluation of platelet indices for differential diagnosis of thrombocytosis by ADVIA 120].[ADVIA 120对血小板指标在血小板增多症鉴别诊断中的评估]
Korean J Lab Med. 2009 Dec;29(6):505-9. doi: 10.3343/kjlm.2009.29.6.505.
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The occurrence of the philadelphia chromosome in essential thrombocytosis.原发性血小板增多症中费城染色体的出现。
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[Thrombocytosis and thrombocythemia].[血小板增多症和血小板增多]
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Chasing down the triple-negative myeloproliferative neoplasms: Implications for molecular diagnostics.探寻三阴性骨髓增殖性肿瘤：对分子诊断的启示
JAKSTAT. 2016 Nov 14;5(2-4):e1248011. doi: 10.1080/21623996.2016.1248011. eCollection 2016.
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JAK2 mutations to the fore in hereditary thrombocythemia.
JAKSTAT. 2014 Oct 30;3(3):e957618. doi: 10.4161/21623988.2014.957618. eCollection 2014.
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Molecular heterogeneity of familial myeloproliferative neoplasms revealed by analysis of the commonly acquired JAK2, CALR and MPL mutations.通过分析常见获得性JAK2、CALR和MPL突变揭示的家族性骨髓增殖性肿瘤的分子异质性
Fam Cancer. 2014 Dec;13(4):659-63. doi: 10.1007/s10689-014-9743-2.

本文引用的文献

1
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.
2
Acquired von Willebrand syndrome type 2A in a JAK2-positive essential thrombocythaemia-affected member of a large von Willebrand disease family with a novel autosomal dominant A1716P mutation.一名携带新型常染色体显性A1716P突变的大型血管性血友病家族中，患JAK2阳性原发性血小板增多症的成员发生了2A型获得性血管性血友病。
Thromb Haemost. 2011 May;105(5):921-4. doi: 10.1160/TH10-08-0517. Epub 2011 Feb 28.
3
Advances in understanding the pathogenesis of familial thrombocythaemia.家族性血小板增多症发病机制的研究进展。
Br J Haematol. 2011 Mar;152(6):701-12. doi: 10.1111/j.1365-2141.2010.08500.x. Epub 2011 Feb 8.
4
Hereditary thrombocytosis caused by MPLSer505Asn is associated with a high thrombotic risk, splenomegaly and progression to bone marrow fibrosis.由 MPLSer505Asn 引起的遗传性血小板增多症与高血栓风险、脾肿大和向骨髓纤维化进展有关。
Haematologica. 2010 Jan;95(1):65-70. doi: 10.3324/haematol.2009.007542. Epub 2009 Aug 27.
5
Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia.在 8 个意大利遗传性血小板增多症家系中发现 MPL-S505N 突变的 founder 效应。
Haematologica. 2009 Oct;94(10):1368-74. doi: 10.3324/haematol.2009.005918. Epub 2009 Jul 16.
6
Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms.家族性骨髓增殖性肿瘤中10-11易位基因2（TET2）的分析
Blood. 2009 Aug 20;114(8):1628-32. doi: 10.1182/blood-2009-01-197525. Epub 2009 Jun 29.
7
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation.遗传性血小板增多症及远端肢体缺陷与血小板生成素基因突变的关联
Blood. 2009 Aug 20;114(8):1655-7. doi: 10.1182/blood-2009-04-217851. Epub 2009 Jun 24.
8
Biclonal expansion and heterogeneous lineage involvement in a case of chronic myeloproliferative disease with concurrent MPLW515L/JAK2V617F mutation.一例伴有MPLW515L/JAK2V617F共突变的慢性骨髓增殖性疾病患者中的双克隆扩增及异质性谱系受累情况
Blood. 2009 Feb 5;113(6):1391-2. doi: 10.1182/blood-2008-01-136499.
9
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene.由MPL基因中的新型种系突变p.Pro106Leu引起的家族性血小板增多症。
Br J Haematol. 2009 Jan;144(2):185-94. doi: 10.1111/j.1365-2141.2008.07430.x. Epub 2008 Nov 19.
10
Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis.
Am J Hematol. 2009 Jan;84(1):46-54. doi: 10.1002/ajh.21313.