具有KIT D816V和JAK2 V617F突变的单卵双胞胎中的成人系统性肥大细胞增多症 - Suppr

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Adult-onset systemic mastocytosis in monozygotic twins with KIT D816V and JAK2 V617F mutations.

作者信息

Broesby-Olsen Sigurd, Kristensen Thomas Kielsgaard, Møller Michael Boe, Bindslev-Jensen Carsten, Vestergaard Hanne

出版信息

J Allergy Clin Immunol. 2012 Sep;130(3):806-8. doi: 10.1016/j.jaci.2012.04.013. Epub 2012 May 16.

DOI:10.1016/j.jaci.2012.04.013

PMID:22608575

Abstract

摘要

相似文献

Adult-onset systemic mastocytosis in monozygotic twins with KIT D816V and JAK2 V617F mutations.

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Clinical and histopathological features of myeloid neoplasms with concurrent Janus kinase 2 (JAK2) V617F and KIT proto-oncogene, receptor tyrosine kinase (KIT) D816V mutations.

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Impact of somatic and germline mutations on the outcome of systemic mastocytosis.

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KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis.

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Adult-onset systemic mastocytosis in monozygotic twins with KIT D816V and JAK2 V617F mutations.

作者信息

Broesby-Olsen Sigurd, Kristensen Thomas Kielsgaard, Møller Michael Boe, Bindslev-Jensen Carsten, Vestergaard Hanne

出版信息

J Allergy Clin Immunol. 2012 Sep;130(3):806-8. doi: 10.1016/j.jaci.2012.04.013. Epub 2012 May 16.

DOI:10.1016/j.jaci.2012.04.013

PMID:22608575

Abstract

摘要

相似文献

Adult-onset systemic mastocytosis in monozygotic twins with KIT D816V and JAK2 V617F mutations.

J Allergy Clin Immunol. 2012 Sep;130(3):806-8. doi: 10.1016/j.jaci.2012.04.013. Epub 2012 May 16.

J Mol Diagn. 2008 Jan;10(1):58-66. doi: 10.2353/jmoldx.2008.070061. Epub 2007 Dec 28.

KIT D816V and JAK2 V617F mutations are seen recurrently in hypereosinophilia of unknown significance.

Am J Hematol. 2015 Sep;90(9):774-7. doi: 10.1002/ajh.24075. Epub 2015 Aug 14.

Clinical and histopathological features of myeloid neoplasms with concurrent Janus kinase 2 (JAK2) V617F and KIT proto-oncogene, receptor tyrosine kinase (KIT) D816V mutations.

Br J Haematol. 2021 Jul;194(2):344-354. doi: 10.1111/bjh.17567. Epub 2021 Jun 1.

Circulating KIT D816V mutation-positive non-mast cells in peripheral blood are characteristic of indolent systemic mastocytosis.

Eur J Haematol. 2012 Jul;89(1):42-6. doi: 10.1111/j.1600-0609.2012.01789.x. Epub 2012 Apr 28.

Phospho-STAT5 and phospho-Akt expression in chronic myeloproliferative neoplasms.

Br J Haematol. 2009 Nov;147(4):495-506. doi: 10.1111/j.1365-2141.2009.07870.x. Epub 2009 Aug 31.

[Analysis of c-kit and JAK2 gene mutations in t(8;21) acute myeloid leukemia].

Zhonghua Xue Ye Xue Za Zhi. 2008 Dec;29(12):797-801.

Concurrent activating KIT mutations in systemic mastocytosis.

Br J Haematol. 2016 Apr;173(1):153-6. doi: 10.1111/bjh.13560. Epub 2015 Jun 16.

Detection of the c-kit D816V mutation in systemic mastocytosis by allele-specific PCR.

J Clin Pathol. 2008 Jan;61(1):109-14. doi: 10.1136/jcp.2007.047928. Epub 2007 May 25.

KIT D816V mutation-positive cell fractions in lesional skin biopsies from adults with systemic mastocytosis.

Dermatology. 2013;226(3):233-7. doi: 10.1159/000349986. Epub 2013 Jun 14.

引用本文的文献

Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.

Cancers (Basel). 2022 May 18;14(10):2487. doi: 10.3390/cancers14102487.

Systemic Mastocytosis: Multidisciplinary Approach.

Mediterr J Hematol Infect Dis. 2021 Nov 1;13(1):e2021068. doi: 10.4084/MJHID.2021.068. eCollection 2021.

Increased Copy Number in a Family With Elevated Basal Serum Levels of Tryptase.

Front Med (Lausanne). 2021 Apr 13;8:577081. doi: 10.3389/fmed.2021.577081. eCollection 2021.

Impact of somatic and germline mutations on the outcome of systemic mastocytosis.

Blood Adv. 2018 Nov 13;2(21):2814-2828. doi: 10.1182/bloodadvances.2018020628.

Clinical Validation of KIT Inhibition in Advanced Systemic Mastocytosis.

Curr Hematol Malig Rep. 2018 Oct;13(5):407-416. doi: 10.1007/s11899-018-0469-3.

Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts.

Blood. 2017 Mar 16;129(11):1420-1427. doi: 10.1182/blood-2016-09-731893. Epub 2016 Dec 28.

Genome-Wide Association Study of Golden Retrievers Identifies Germ-Line Risk Factors Predisposing to Mast Cell Tumours.

PLoS Genet. 2015 Nov 20;11(11):e1005647. doi: 10.1371/journal.pgen.1005647. eCollection 2015 Nov.

KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis.

Leukemia. 2015 Jun;29(6):1223-32. doi: 10.1038/leu.2015.24. Epub 2015 Feb 4.

Primary mast cell disorders in children.

Curr Allergy Asthma Rep. 2013 Dec;13(6):693-701. doi: 10.1007/s11882-013-0392-6.

Familial occurrence of systemic mast cell activation disease.

PLoS One. 2013 Sep 30;8(9):e76241. doi: 10.1371/journal.pone.0076241. eCollection 2013.