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Disseminated non-Langerhans cell histiocytosis with an IRF2BP2-NTRK1 gene fusion identified by next-generation sequencing.

作者信息

Chan Warren H, Shah Aatman, Bae Gordon, Hambro Caely, Martin Beth A, Brown Ryanne, Novoa Roberto, Kwong Bernice Y

机构信息

Department of Dermatology, Stanford University, Stanford, California.

Department of Hematology, Stanford University, Stanford, California.

出版信息

JAAD Case Rep. 2020 Jun 3;6(11):1156-1158. doi: 10.1016/j.jdcr.2020.05.032. eCollection 2020 Nov.

DOI:10.1016/j.jdcr.2020.05.032
PMID:33134460
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7591321/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4331/7591321/309417529b38/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4331/7591321/ece5bd5f6a6b/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4331/7591321/309417529b38/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4331/7591321/ece5bd5f6a6b/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4331/7591321/309417529b38/gr2.jpg

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NTRK1 Gene Fusions Are Frequent in Juvenile Xanthogranuloma.NTRK1基因融合在幼年性黄色肉芽肿中很常见。

本文引用的文献

1
Molecular Profiling of Tumor Tissue and Plasma Cell-Free DNA from Patients with Non-Langerhans Cell Histiocytosis.对非朗格汉斯细胞组织细胞增生症患者的肿瘤组织和血浆无细胞 DNA 进行分子分析。
Mol Cancer Ther. 2019 Jun;18(6):1149-1157. doi: 10.1158/1535-7163.MCT-18-1244. Epub 2019 Apr 23.
2
Oncogenic TRK fusions are amenable to inhibition in hematologic malignancies.致癌性 TRK 融合可抑制血液系统恶性肿瘤。
J Clin Invest. 2018 Aug 31;128(9):3819-3825. doi: 10.1172/JCI120787. Epub 2018 Aug 6.
3
Molecular characterization of the histiocytoses: Neoplasia of dendritic cells and macrophages.
Am J Surg Pathol. 2025 Apr 16;49(8):763-769. doi: 10.1097/PAS.0000000000002405.
组织细胞增多症的分子特征：树突状细胞和巨噬细胞的肿瘤性疾病。
Semin Cell Dev Biol. 2019 Feb;86:62-76. doi: 10.1016/j.semcdb.2018.03.002. Epub 2018 Mar 16.
4
Real-time genomic profiling of histiocytoses identifies early-kinase domain BRAF alterations while improving treatment outcomes.实时基因组分析有助于明确组织细胞增多症的早期激酶结构域 BRAF 改变，从而改善治疗结局。
JCI Insight. 2017 Feb 9;2(3):e89473. doi: 10.1172/jci.insight.89473.
5
Generalized eruptive histiocytosis associated with a novel fusion in LMNA-NTRK1.与LMNA-NTRK1新型融合相关的泛发性发疹性组织细胞增多症
Dermatol Online J. 2016 Aug 15;22(8):13030/qt07d3f2xk.
6
Histiocytic neoplasms in the era of personalized genomic medicine.个性化基因组医学时代的组织细胞肿瘤
Curr Opin Hematol. 2016 Jul;23(4):416-25. doi: 10.1097/MOH.0000000000000256.
7
Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages.巨噬细胞-树突状细胞谱系组织细胞增多症和肿瘤的修订分类
Blood. 2016 Jun 2;127(22):2672-81. doi: 10.1182/blood-2016-01-690636. Epub 2016 Mar 10.
8
Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms.多样且可靶向的激酶改变驱动组织细胞肿瘤。
Cancer Discov. 2016 Feb;6(2):154-65. doi: 10.1158/2159-8290.CD-15-0913. Epub 2015 Nov 13.
9
Progressive nodular histiocytosis: a case report and literature review.进行性结节性组织细胞增多症：一例报告及文献复习
Int J Dermatol. 2011 Dec;50(12):1546-51. doi: 10.1111/j.1365-4632.2011.04904.x.
10
Progressive nodular histiocytosis: a case report with literature review, and discussion of differential diagnosis and classification.进行性结节性组织细胞增多症：一例报告并文献复习，兼论鉴别诊断与分类
J Cutan Pathol. 2009 Dec;36(12):1286-92. doi: 10.1111/j.1600-0560.2009.01454.x.