青少年复发性颗粒细胞肿瘤的遗传学研究：细胞学和下一代测序在RASopathies诊断中的作用。

IF 1.1 4区医学 Q4 CELL BIOLOGY

Cytopathology Pub Date : 2025-03-12 DOI:10.1111/cyt.13483

Pakesh Baishya, Bifica S. Lyngdoh, Thangjam Ruchika Devi, Abhilash Goyal, Sankappa P. Sinhasan

引用次数: 0

摘要

Rasopathies是一组遗传性疾病，涉及异常Ras/丝裂原活化蛋白激酶（Ras/ MAPK）信号通路，这是一种机制方法来定义遗传综合征并使其独特。努南综合征，RASopathy的一种形式，发生在父亲年龄较大，具有常染色体显性遗传。有研究表明，异常的RAS/MAPK通路细胞信号传导可能导致多发性良性颗粒细胞肿瘤。我们已经描述了一个病例复发多发性良性颗粒细胞肿瘤的青少年儿童与努南综合征，强调遗传调查的重要性在这一亚组患者。

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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Genetic Insights Into Recurrent Granular Cell Tumours in an Adolescent: The Role of Cytology and Next-Generation Sequencing in the Diagnosis of RASopathies

Recurrent multiple benign granular cell tumours were observed in an adolescent with Noonan syndrome, a RASopathy linked to dysregulated RAS/MAPK signalling. This case suggests a potential association between aberrant pathway activation and tumour development, highlighting the need for evaluating associated fatal anomalies and conducting genetic studies.

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来源期刊

Cytopathology 生物-病理学

CiteScore

2.30

自引率

15.40%

发文量

107

审稿时长

6-12 weeks

期刊介绍： The aim of Cytopathology is to publish articles relating to those aspects of cytology which will increase our knowledge and understanding of the aetiology, diagnosis and management of human disease. It contains original articles and critical reviews on all aspects of clinical cytology in its broadest sense, including: gynaecological and non-gynaecological cytology; fine needle aspiration and screening strategy. Cytopathology welcomes papers and articles on: ultrastructural, histochemical and immunocytochemical studies of the cell; quantitative cytology and DNA hybridization as applied to cytological material.