Congenital melanocytic nevus (CMN) is a benign proliferative skin disease in the epidermis and dermis. Large to giant CMNs are estimated to be associated with an increased lifetime risk of malignancy. It is necessary to estimate and monitor the risk of malignant transformation for giant CMNs. To date, the clinical “ABCD” criteria and immunohistochemistry studies can be confusing and, to some extent, subjective. Accordingly, the elucidation of genomic analyses of nevi is required to better understand the malignant transformation of CMNs. Here, we describe two large to giant CMNs of the scalp with opposite clinical-histological and molecular evaluations of potential malignancy risk. To our knowledge, this is the first description of a genetic study of large to giant CMNs of the scalp in East Asia. We recommend reviewing the molecular diagnosis together with careful medical history and histological information to facilitate the evaluation of the potential malignancy risk.

中文翻译：

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头皮巨大的先天性黑素细胞痣：从临床组织学到分子诊断

先天性黑素细胞痣（CMN）是一种表皮和真皮的良性增生性皮肤病。据估计，大型到巨大的 CMN 与增加的终生恶性肿瘤风险有关。有必要对巨大CMNs的恶变风险进行评估和监测。迄今为止，临床“ABCD”标准和免疫组织化学研究可能令人困惑，并且在某种程度上是主观的。因此，需要对痣的基因组分析进行阐明，以更好地了解 CMN 的恶性转化。在这里，我们描述了头皮的两个大到巨大的 CMN，它们具有相反的潜在恶性肿瘤风险的临床组织学和分子评估。据我们所知，这是对东亚头皮大到巨大 CMN 的遗传研究的首次描述。