Association of novel MUC16, MAP3K15 and ABCA1 mutation with giant congenital melanocytic nevus.

IF 2.7 3区生物学

Hereditas Pub Date : 2022-09-09 DOI:10.1186/s41065-022-00247-8

Renpeng Zhou, Qirui Wang, Jialin Hou, Danru Wang, Yimin Liang

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引用次数: 0

Abstract

Background: Giant congenital melanocytic nevus (GCMN) is the benign nevomelanocytic proliferation. Mutations in NRAS have been previously detected in GCMN, but mutations in BRAF are generally lacking in the Chinese population. Mutated genes in this disease can estimate the risk of malignant transformation in GCMN. Therefore, it is worth investigating the genetic information of GCMN.

Methods: Here, we presented two cases of GCMN of the upper extremities. The clinical and histological data were analyzed. The whole exome sequencing (WES) was performed to investigate the mutational profile of peripheral venous blood (PB), normal skin (NS), small melanocytic nevus (SMN), deep penetrating and non-penetrating GCMN (dPGCMN and nPGCMN).

Results: We showed a reduction in the circumference of involved upper extremities in both patients. The clinical and histopathological data indicated the reduction of adipose tissue associated with the invasion of GCMN. The WES data revealed that MUC16, MAP3K15 and ABCA1 were novel potential candidate genes for the disease as well as biomarkers for predicting malignant transformation.

Conclusion: The MUC16, MAP3K15 and ABCA1 may serve as novel biomarkers for predicting malignant transformation and targets for the diagnoses and therapy for the GCMN.

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新型MUC16、MAP3K15和ABCA1突变与巨大先天性黑素细胞痣的关系

背景:巨大先天性黑素细胞痣(Giant congenital melanocytic nevus, GCMN)是一种良性的黑色素细胞增生。以前在GCMN中检测到NRAS突变，但在中国人群中普遍缺乏BRAF突变。这种疾病的突变基因可以估计GCMN恶性转化的风险。因此，GCMN的遗传信息值得深入研究。方法:本文报告2例上肢GCMN。对临床和组织学资料进行分析。采用全外显子组测序(WES)研究外周静脉血(PB)、正常皮肤(NS)、小黑素细胞痣(SMN)、深穿透性和非穿透性GCMN (dPGCMN和nPGCMN)的突变谱。结果:两例患者受累上肢围度均有所降低。临床和组织病理学数据表明，脂肪组织的减少与GCMN的侵袭有关。WES数据显示MUC16、MAP3K15和ABCA1是该疾病新的潜在候选基因，也是预测恶性转化的生物标志物。结论:MUC16、MAP3K15和ABCA1可能是预测GCMN恶性转化的新的生物标志物和诊断和治疗的靶点。

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

Hereditas Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.80

自引率

3.70%

发文量

期刊介绍： For almost a century, Hereditas has published original cutting-edge research and reviews. As the Official journal of the Mendelian Society of Lund, the journal welcomes research from across all areas of genetics and genomics. Topics of interest include human and medical genetics, animal and plant genetics, microbial genetics, agriculture and bioinformatics.