Novel genetic alteration in congenital melanocytic nevus: MAP2K1 germline mutation with BRAF somatic mutation
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Novel genetic alteration in congenital melanocytic nevus: MAP2K1 germline mutation with BRAF somatic mutation Yun Zou1†, Yi Sun1†, Xiaojing Zeng2†, Yun Liu3, Qingqing Cen1, Hao Gu1, Xiaoxi Lin1*†, Ren Cai1,4*† Hui Chen1*†
and
Abstract Congenital melanocytic nevus (CMN) represent a benign proliferative skin disease in the epidermis and dermis. CMN are historically known to be associated with activating NRAS or BRAF mutations. Melanoma frequently harbors the BRAF p.Val600Glu mutation, which is also commonly found in benign nevi. A recent study reported mutation of MAP2K1, a downstream effector of the RAS-RAF-MEK pathway, in melanoma with an overall frequency of 8%. Later, in 2019, Jansen P detected one activating MAP2K1 mutation in acral nevi. However, it is unknown whether MAP2K1 mutations are common in CMN, and how MAP2K1 contributes to the pathogenesis of CMN remains to be determined. In this study, we report one patient clinically and histologically diagnosed with CMN, with the MAP2K1 germline mutation and a BRAF p.Val600Glu somatic hit in the lesion. To the best of our knowledge, this is the first report of the coexistence of mutated BRAF and MAP2K1 in CMN, which may suggest that MAP2K1 mutations contribute to the occurrence and development of nevus expanding our knowledge of the genetics of CMN.
Background Congenital melanocytic nevus (CMN) represent a benign proliferative skin disease in the epidermis and dermis that presents at birth or in the first few weeks of life and affects approximately 1–2% of newborns [1]. CMN can present as dark pigmented lesions with rugose, pebbly, verrucous, or even cerebriform surfaces [2]. Nevi lesions may become progressively darker and thicker with age. Although biologically considered benign diseases, it has been confirmed that CMN can be a precursor of melanoma given their shared common driver mutations [3, 4]. CMN are historically known to be associated with * Correspondence: [email protected]; [email protected]; [email protected] † Yun Zou, Yi Sun and Xiaojing Zeng are contributed equally to this work and should be considered co-first writers. 1 Department of Plastic and Reconstructive Surgery, Shanghai 9th Peoples Hospital Affiliated to Shanghai Jiaotong University, Shanghai, China Full list of author information is available at the end of the article
activating NRAS mutations. According to the literature, melanoma, a malignant cancer, frequently harbors the BRAF p.Val600Glu mutation [5]. In addition, BRAF p.Val600Glu was also identified in CMN [6], suggesting that the alteration constitutes an early key somatic event in the transformation into melanoma. Nikolaev et al. detected mutation of MAP2K1, a downstream effector in the RAS-RAF-MEK pathway, in melanoma with an overall frequency of 8% [7]. Later, in 2019, Jansen P detected one activating MAP2K1 mutation in acral nevi [8]. However, it is unknown whether MAP2K1 mutations are common in CMN, and how MAP2K1 contributes to the pathogenesis of CMN remains to be determined. In this study
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