一个遗传性血小板增多症家族中的种系JAK2突变 - Suppr

Suppr

超能文献

Germline JAK2 mutation in a family with hereditary thrombocytosis.

作者信息

Mead Adam J, Rugless Michelle J, Jacobsen Sten Eirik W, Schuh Anna

出版信息

N Engl J Med. 2012 Mar 8;366(10):967-9. doi: 10.1056/NEJMc1200349.

DOI:10.1056/NEJMc1200349

PMID:22397670

Abstract

摘要

相似文献

Germline JAK2 mutation in a family with hereditary thrombocytosis.

N Engl J Med. 2012 Mar 8;366(10):967-9. doi: 10.1056/NEJMc1200349.

Germline L611S mutation in a child with thrombocytosis.

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

Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors.

Blood. 2014 Feb 27;123(9):1372-83. doi: 10.1182/blood-2013-05-504555. Epub 2014 Jan 7.

Progression to polythythemia vera from familial thrombocytosis with germline JAK2 R867Q mutation.

Ann Hematol. 2018 Apr;97(4):737-739. doi: 10.1007/s00277-017-3209-1. Epub 2018 Jan 24.

A typical acute lymphoblastic leukemia JAK2 variant, R683G, causes an aggressive form of familial thrombocytosis when germline.

Leukemia. 2021 Nov;35(11):3295-3298. doi: 10.1038/s41375-021-01239-9. Epub 2021 Apr 12.

A novel JAK2 R564* variant in a patient with thrombocytosis.

Int J Lab Hematol. 2020 Apr;42(2):e38-e41. doi: 10.1111/ijlh.13090. Epub 2019 Aug 23.

Hereditary erythrocytosis, thrombocytosis and neutrophilia.

Best Pract Res Clin Haematol. 2014 Jun;27(2):95-106. doi: 10.1016/j.beha.2014.07.002. Epub 2014 Jul 18.

High occurrence of JAK2 V617 mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis.

Leukemia. 2006 Nov;20(11):2067-70. doi: 10.1038/sj.leu.2404405. Epub 2006 Sep 21.

Essential thrombocytosis attributed to JAK2-T875N germline mutation.

Int J Hematol. 2019 Nov;110(5):584-590. doi: 10.1007/s12185-019-02725-8. Epub 2019 Aug 19.

Diagnostic workflow for hereditary erythrocytosis and thrombocytosis.

Hematology Am Soc Hematol Educ Program. 2019 Dec 6;2019(1):391-396. doi: 10.1182/hematology.2019000047.

引用本文的文献

JAK2 p.R564 germ line variants associated with hereditary thrombocythemia and hematologic neoplasms.

Blood Adv. 2025 Apr 8;9(7):1534-1543. doi: 10.1182/bloodadvances.2024013661.

Molecular profiling in MPN: who should have it and why?

Hematology Am Soc Hematol Educ Program. 2024 Dec 6;2024(1):524-534. doi: 10.1182/hematology.2024000576.

Unraveling the germline inheritance of the F556V gene mutation in familial thrombocythemia: a comprehensive analysis of 11 family members and potential implications for surveillance.

Haematologica. 2025 Feb 1;110(2):485-487. doi: 10.3324/haematol.2024.285329.

Hereditary thrombocythemia due to splicing donor site mutation of THPO in a Japanese family.

Ann Hematol. 2024 Jan;103(1):89-96. doi: 10.1007/s00277-023-05523-9. Epub 2023 Nov 14.

Managing Cardiovascular and Cancer Risk Associated with JAK Inhibitors.

Drug Saf. 2023 Nov;46(11):1049-1071. doi: 10.1007/s40264-023-01333-0. Epub 2023 Jul 25.

p.V617F Variants in Non-Blood DNA from Patients with Polycythemia Vera.

Turk J Haematol. 2023 Aug 31;40(3):220-222. doi: 10.4274/tjh.galenos.2023.2023-0159. Epub 2023 Jun 6.

Pediatric Philadelphia-Negative Myeloproliferative Neoplasms in the Era of WHO Classification: A Systematic Review.

Diagnostics (Basel). 2023 Jan 19;13(3):377. doi: 10.3390/diagnostics13030377.

Genetic basis and molecular profiling in myeloproliferative neoplasms.

Blood. 2023 Apr 20;141(16):1909-1921. doi: 10.1182/blood.2022017578.

JAK: Not Just Another Kinase.

Mol Cancer Ther. 2022 Dec 2;21(12):1757-1764. doi: 10.1158/1535-7163.MCT-22-0323.

EAHP 2020 workshop proceedings, pediatric myeloid neoplasms.

Virchows Arch. 2022 Oct;481(4):621-646. doi: 10.1007/s00428-022-03375-8. Epub 2022 Jul 11.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

相似文献

Germline JAK2 mutation in a family with hereditary thrombocytosis.

N Engl J Med. 2012 Mar 8;366(10):967-9. doi: 10.1056/NEJMc1200349.

Germline L611S mutation in a child with thrombocytosis.

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

Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors.

Blood. 2014 Feb 27;123(9):1372-83. doi: 10.1182/blood-2013-05-504555. Epub 2014 Jan 7.

Progression to polythythemia vera from familial thrombocytosis with germline JAK2 R867Q mutation.

Ann Hematol. 2018 Apr;97(4):737-739. doi: 10.1007/s00277-017-3209-1. Epub 2018 Jan 24.

A typical acute lymphoblastic leukemia JAK2 variant, R683G, causes an aggressive form of familial thrombocytosis when germline.

Leukemia. 2021 Nov;35(11):3295-3298. doi: 10.1038/s41375-021-01239-9. Epub 2021 Apr 12.

A novel JAK2 R564* variant in a patient with thrombocytosis.

Int J Lab Hematol. 2020 Apr;42(2):e38-e41. doi: 10.1111/ijlh.13090. Epub 2019 Aug 23.

Hereditary erythrocytosis, thrombocytosis and neutrophilia.

Best Pract Res Clin Haematol. 2014 Jun;27(2):95-106. doi: 10.1016/j.beha.2014.07.002. Epub 2014 Jul 18.

High occurrence of JAK2 V617 mutation in refractory anemia with ringed sideroblasts associated with marked thrombocytosis.

Leukemia. 2006 Nov;20(11):2067-70. doi: 10.1038/sj.leu.2404405. Epub 2006 Sep 21.

Essential thrombocytosis attributed to JAK2-T875N germline mutation.

Int J Hematol. 2019 Nov;110(5):584-590. doi: 10.1007/s12185-019-02725-8. Epub 2019 Aug 19.

Diagnostic workflow for hereditary erythrocytosis and thrombocytosis.

Hematology Am Soc Hematol Educ Program. 2019 Dec 6;2019(1):391-396. doi: 10.1182/hematology.2019000047.

引用本文的文献

JAK2 p.R564 germ line variants associated with hereditary thrombocythemia and hematologic neoplasms.

Blood Adv. 2025 Apr 8;9(7):1534-1543. doi: 10.1182/bloodadvances.2024013661.

Molecular profiling in MPN: who should have it and why?

Hematology Am Soc Hematol Educ Program. 2024 Dec 6;2024(1):524-534. doi: 10.1182/hematology.2024000576.

Unraveling the germline inheritance of the F556V gene mutation in familial thrombocythemia: a comprehensive analysis of 11 family members and potential implications for surveillance.

Haematologica. 2025 Feb 1;110(2):485-487. doi: 10.3324/haematol.2024.285329.

Hereditary thrombocythemia due to splicing donor site mutation of THPO in a Japanese family.

Ann Hematol. 2024 Jan;103(1):89-96. doi: 10.1007/s00277-023-05523-9. Epub 2023 Nov 14.

Managing Cardiovascular and Cancer Risk Associated with JAK Inhibitors.

Drug Saf. 2023 Nov;46(11):1049-1071. doi: 10.1007/s40264-023-01333-0. Epub 2023 Jul 25.

p.V617F Variants in Non-Blood DNA from Patients with Polycythemia Vera.

Turk J Haematol. 2023 Aug 31;40(3):220-222. doi: 10.4274/tjh.galenos.2023.2023-0159. Epub 2023 Jun 6.

Pediatric Philadelphia-Negative Myeloproliferative Neoplasms in the Era of WHO Classification: A Systematic Review.

Diagnostics (Basel). 2023 Jan 19;13(3):377. doi: 10.3390/diagnostics13030377.

Genetic basis and molecular profiling in myeloproliferative neoplasms.

Blood. 2023 Apr 20;141(16):1909-1921. doi: 10.1182/blood.2022017578.

JAK: Not Just Another Kinase.

Mol Cancer Ther. 2022 Dec 2;21(12):1757-1764. doi: 10.1158/1535-7163.MCT-22-0323.

EAHP 2020 workshop proceedings, pediatric myeloid neoplasms.

Virchows Arch. 2022 Oct;481(4):621-646. doi: 10.1007/s00428-022-03375-8. Epub 2022 Jul 11.