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RAS-MAPK Pathway Mutations in Congenital Pulmonary Airway Malformations.

作者信息

Windrich Jonas, Braubach Peter, Länger Florian, Dingemann Jens, Schwerk Nicolaus, Wetzke Martin, Renz Diane M, Zenker Martin, Schanze Denny, Kratz Christian P

机构信息

Pediatric Hematology and Oncology.

Institute of Pathology.

出版信息

Am J Respir Crit Care Med. 2024 May 15;209(10):1266-1268. doi: 10.1164/rccm.202311-2163LE.

DOI:10.1164/rccm.202311-2163LE
PMID:38377348
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11146530/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c6e/11146530/0bef05daebed/rccm.202311-2163LEf1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c6e/11146530/0bef05daebed/rccm.202311-2163LEf1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c6e/11146530/0bef05daebed/rccm.202311-2163LEf1.jpg

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本文引用的文献

1
Congenital lung malformations.先天性肺畸形。
Nat Rev Dis Primers. 2023 Nov 2;9(1):60. doi: 10.1038/s41572-023-00470-1.
2
Congenital Pulmonary Airway Malformations With a Reconsideration and Current Perspective on the Stocker Classification.先天性肺气道畸形的再思考及对斯多克分类的最新观点。
Pediatr Dev Pathol. 2023 May-Jun;26(3):241-249. doi: 10.1177/10935266221146823. Epub 2023 Feb 21.
3
Pan-KRAS inhibitor disables oncogenic signalling and tumour growth.泛 KRAS 抑制剂使致癌信号和肿瘤生长失活。
重新审视儿童和青少年癌症的遗传易感性。
Nat Rev Cancer. 2025 Feb;25(2):109-128. doi: 10.1038/s41568-024-00775-7. Epub 2024 Dec 3.
4
Cancer in Multilineage Mosaic RASopathies due to Pathogenic Variants in HRAS or KRAS: A Systematic Review and Meta-analysis.多谱系嵌合体 RAS 病相关癌症的发生归因于 HRAS 或 KRAS 中的致病性变异：系统评价和荟萃分析。
Clin Cancer Res. 2024 Nov 15;30(22):5116-5121. doi: 10.1158/1078-0432.CCR-24-1928.
Nature. 2023 Jul;619(7968):160-166. doi: 10.1038/s41586-023-06123-3. Epub 2023 May 31.
4
Morphologic Features in Congenital Pulmonary Airway Malformations and Pulmonary Sequestrations Correlate With Mutation Status: A Mechanistic Approach to Classification.先天性肺气道畸形和肺隔离症的形态学特征与突变状态相关：一种分类的机制方法。
Am J Surg Pathol. 2023 May 1;47(5):568-579. doi: 10.1097/PAS.0000000000002025. Epub 2023 Feb 21.
5
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway.镶嵌型RAS病：RAS/MAPK通路基因体细胞致病变异所致疾病综述
Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):520-529. doi: 10.1002/ajmg.c.32021. Epub 2022 Dec 2.
6
Clinical overview on RASopathies.RAS 病的临床概述。
Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):414-424. doi: 10.1002/ajmg.c.32015. Epub 2022 Nov 25.
7
Defining the spatial landscape of KRAS mutated congenital pulmonary airway malformations: a distinct entity with a spectrum of histopathologic features.定义 KRAS 突变性先天性肺气道畸形的空间景观：具有一系列组织病理学特征的独特实体。
Mod Pathol. 2022 Dec;35(12):1870-1881. doi: 10.1038/s41379-022-01129-0. Epub 2022 Jul 6.
8
Early KRAS oncogenic driver mutations in nonmucinous tissue of congenital pulmonary airway malformations as an indicator of potential malignant behavior.先天性肺气道畸形非黏液组织中 KRAS 原癌基因驱动突变作为潜在恶性行为的指标。
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9
The RASopathies.RAS 相关疾病。
Annu Rev Genomics Hum Genet. 2013;14:355-69. doi: 10.1146/annurev-genom-091212-153523. Epub 2013 Jul 15.
10
DICER1 mutations in familial pleuropulmonary blastoma.家族性胸膜肺母细胞瘤中的DICER1突变
Science. 2009 Aug 21;325(5943):965. doi: 10.1126/science.1174334. Epub 2009 Jun 25.