Terry Jefferson
Department of Pathology, British Columbia Children's and Women's Hospitals, Vancouver, British Columbia, Canada.
J Cutan Pathol. 2025 Feb;52(2):85-91. doi: 10.1111/cup.14745. Epub 2024 Nov 6.
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.
皮肤神经嵴错构瘤（CNH）是一种由神经嵴衍生物组成的罕见病变，被认为起源于神经嵴细胞的异常迁移和分化。CNH的识别可能具有挑战性，因为它们可能类似于巨大先天性痣，并且增殖性结节（PNs）的出现可能引发对恶性转化的担忧。评估CNH及源自CNH的PNs中的基因表达，可能有助于深入了解其发病机制，并提示可用于识别这些病变的临床有用生物标志物。本研究调查了一例先天性CNH以及源自该CNH的三个独立PNs中的基因表达模式，并将巨大先天性痣和恶性黑色素瘤作为对照群体。PN与CNH的比较显示，编码肿瘤抑制因子的WIF1表达下调，WIF1表达缺失可能解释了从CNH到PN的进展。PN和CNH与巨大先天性痣和恶性黑色素瘤的基因表达比较显示，CNH和PN中IGF2和H19相对过表达，提示异常印记和IGF2过表达可能在CNH的发生中起重要作用。
