Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, 639 Zhi Zao Ju Road, Shanghai, 200011, People's Republic of China.
Hereditas. 2022 Sep 9;159(1):33. doi: 10.1186/s41065-022-00247-8.
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.
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).
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.
The MUC16, MAP3K15 and ABCA1 may serve as novel biomarkers for predicting malignant transformation and targets for the diagnoses and therapy for the GCMN.
巨大先天性黑素细胞痣（GCMN）是良性黑素细胞增生。先前已在 GCMN 中检测到 NRAS 突变，但 BRAF 突变在中国人群中通常缺乏。该疾病的突变基因可估计 GCMN 恶性转化的风险。因此，值得研究 GCMN 的遗传信息。
在此，我们介绍了两例上肢 GCMN。分析了临床和组织学数据。进行了全外显子组测序（WES）以研究外周静脉血（PB）、正常皮肤（NS）、小黑素细胞痣（SMN）、深部穿透性和非穿透性 GCMN（dPGCMN 和 nPGCMN）的突变谱。
我们显示两名患者受累上肢的周长均减小。临床和组织病理学数据表明 GCMN 侵袭时脂肪组织减少。WES 数据显示，MUC16、MAP3K15 和 ABCA1 是该疾病的新潜在候选基因，也是预测恶性转化的生物标志物。
MUC16、MAP3K15 和 ABCA1 可作为预测恶性转化的新型生物标志物，以及 GCMN 诊断和治疗的靶点。
