伴有多发性增殖结节的先天性神经肉芽肿的基因表达模式

IF 1.6 4区 医学 Q3 DERMATOLOGY Journal of Cutaneous Pathology Pub Date : 2024-11-06 DOI:10.1111/cup.14745
Jefferson Terry
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引用次数: 0

摘要

皮肤神经嵴火腿瘤(CNH)是一种由神经嵴衍生物组成的罕见病变,被认为是由神经嵴细胞的异常迁移和分化引起的。CNH可能很难识别,因为它们可能类似于巨大的先天性痣,而增殖性结节(PNs)的发展可能会引起恶性转化的担忧。评估 CNH 和由 CNH 衍生的 PNs 的基因表达可能有助于深入了解发病机制,并提出对临床有用的生物标志物来识别这些实体。本研究以巨大先天性痣和恶性黑色素瘤为参照组,研究了先天性 CNH 和由该 CNH 衍生的三个独立 PN 的基因表达模式。PN 与 CNH 的比较显示,编码肿瘤抑制因子的 WIF1 基因表达下调,WIF1 基因表达的缺失可能是 CNH 发展为 PN 的原因。将 PN 和 CNH 与巨大先天性痣和恶性黑色素瘤的基因表达进行比较,发现 IGF2 和 H19 在 CNH 和 PN 中相对过表达,这表明异常印记和 IGF2 过表达可能在 CNH 的形成过程中起着不可或缺的作用。
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Gene Expression Patterns in a Congenital Neurocristic Hamartoma With Multiple Proliferative Nodules.

Cutaneous neurocristic hamartoma (CNH) is a rare lesion composed of neural crest derivatives, thought to arise from aberrant migration and differentiation of neural crest cells. Recognition of CNH may be difficult, as they may resemble giant congenital nevus, and development of proliferative nodules (PNs) may raise concern for malignant transformation. Assessment of gene expression in CNH and PNs derived from CNH may offer insight into pathogenesis and suggest clinically useful biomarkers to identify these entities. This study investigates gene expression patterns in a congenital CNH and three separate PNs derived from that CNH with giant congenital nevus and malignant melanoma as comparator groups. Comparison of PN to CNH demonstrates downregulation of WIF1, which encodes as a tumor suppressor, and loss of WIF1 expression might explain the progression from CNH to PN. Comparison of gene expression in PN and CNH with giant congenital nevus and malignant melanoma shows relative overexpression of IGF2 and H19 in CNH and PN, suggesting that abnormal imprinting and IGF2 overexpression may have integral functions in the foundation of CNH.

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来源期刊
CiteScore
3.20
自引率
5.90%
发文量
174
审稿时长
3-8 weeks
期刊介绍: Journal of Cutaneous Pathology publishes manuscripts broadly relevant to diseases of the skin and mucosae, with the aims of advancing scientific knowledge regarding dermatopathology and enhancing the communication between clinical practitioners and research scientists. Original scientific manuscripts on diagnostic and experimental cutaneous pathology are especially desirable. Timely, pertinent review articles also will be given high priority. Manuscripts based on light, fluorescence, and electron microscopy, histochemistry, immunology, molecular biology, and genetics, as well as allied sciences, are all welcome, provided their principal focus is on cutaneous pathology. Publication time will be kept as short as possible, ensuring that articles will be quickly available to all interested in this speciality.
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