Pulmonary papillary adenoma: comprehensive clinicopathologic analysis of 10 cases and molecular genetic analysis of 7 cases.

IF 3.4 3区 医学 Q1 PATHOLOGY
Siyu He, Yuyao Xie, Yinan Zhu, Ziyue Wang, Lin Fu, Xuyong Lin
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引用次数: 0

Abstract

Pulmonary papillary adenoma (PPA) constitutes a relatively uncommon type of lung neoplasm, which gives rise to a diagnostic intricacy. Owing to the paucity, our understanding of this disease remains far from comprehensive, and a thorough molecular investigation around PPA has been conspicuously lacking. The current study amassed a group of 10 cases of PPA that had been precisely diagnosed. We collected their clinical particulars and utilized next-generation sequencing (NGS) technology to examine the genetic mutations in 7 of these cases. The study population comprised 3 female and 7 male patients, with a median age of 52.9 years. The tumor sizes ranged from 0.8 to 3.8 cm. Seven patients were asymptomatic, while three patients manifested respiratory symptoms. Through the application of NGS, a wide array of mutation patterns was identified in the 7 cases, implicating pathways such as Wnt, RTK/RAS, PI3K, and Cell Cycle/Checkpoint. More precisely, mutations in genes such as MAP2K1 (1/7), AKT1 (1/7), NF1 (1/7), APC (2/7), EGFR (1/7), NBN (1/7), and CTNNB1 (1/7) were detected. The pathways most commonly involved were the Wnt pathway (3/7, APC and CTNNB1) and the RTK/RAS pathway (3/7, MAP2K1, NF1, and EGFR). As of now, all patients are still alive, without any evidence of recurrence or metastasis. This study has significantly enlarged the PPA case database and has suggested that PPA is a tumor type possessing unique and relatively complex molecular characteristics.

肺乳头状腺瘤:综合临床病理分析10例,分子遗传学分析7例。
肺乳头状腺瘤(PPA)是一种相对罕见的肺肿瘤,其诊断非常复杂。由于缺乏,我们对这种疾病的了解还远远不够全面,而且明显缺乏对PPA的彻底的分子研究。目前的研究收集了10例精确诊断的PPA病例。我们收集了他们的临床资料,并利用新一代测序(NGS)技术检测了其中7例的基因突变。研究人群为女性3例,男性7例,中位年龄52.9岁。肿瘤大小为0.8 ~ 3.8 cm。7例无症状,3例出现呼吸道症状。通过NGS的应用,在7例中发现了广泛的突变模式,涉及Wnt, RTK/RAS, PI3K和细胞周期/检查点等途径。更准确地说,检测到MAP2K1(1/7)、AKT1(1/7)、NF1(1/7)、APC(2/7)、EGFR(1/7)、NBN(1/7)和CTNNB1(1/7)等基因的突变。最常见的通路是Wnt通路(3/7,APC和CTNNB1)和RTK/RAS通路(3/7,MAP2K1, NF1和EGFR)。到目前为止,所有患者都还活着,没有任何复发或转移的迹象。本研究显著扩大了PPA病例数据库,提示PPA是一种具有独特且相对复杂分子特征的肿瘤类型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Virchows Archiv
Virchows Archiv 医学-病理学
CiteScore
7.40
自引率
2.90%
发文量
204
审稿时长
4-8 weeks
期刊介绍: Manuscripts of original studies reinforcing the evidence base of modern diagnostic pathology, using immunocytochemical, molecular and ultrastructural techniques, will be welcomed. In addition, papers on critical evaluation of diagnostic criteria but also broadsheets and guidelines with a solid evidence base will be considered. Consideration will also be given to reports of work in other fields relevant to the understanding of human pathology as well as manuscripts on the application of new methods and techniques in pathology. Submission of purely experimental articles is discouraged but manuscripts on experimental work applicable to diagnostic pathology are welcomed. Biomarker studies are welcomed but need to abide by strict rules (e.g. REMARK) of adequate sample size and relevant marker choice. Single marker studies on limited patient series without validated application will as a rule not be considered. Case reports will only be considered when they provide substantial new information with an impact on understanding disease or diagnostic practice.
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