Abstract
Desmoplastic melanoma (DM) is a rare variant of melanoma with distinct clinical, histopathologic, and immunohistochemical features. Clinically, DM differs from conventional melanoma by a higher propensity for local recurrence and less frequent metastatic spread to regional lymph nodes. In its pure form, DM has a distinct appearance displaying a low density of fusiform melanocytes in a collagen-rich matrix. Whereas a number of mutations have been identified in primary melanoma, including BRAF, NRAS, GNAQ, GNA11, and KIT, and the occurrence of these mutations has been found to correlate to some extent with the histopathologic features, anatomic site, and/or mode of sun exposure, no distinct set of mutations has so far been reported for DM. To study the potential association of neurofibromin (NF1) mutations with DM, we examined 15 desmoplastic and 20 non-DMs by next-generation sequencing. Mutations of the NF1 gene were found in 14 of 15 (93%) DMs and 4 of 20 (20%) non-DMs. The high frequency of NF1 mutations in DMs suggests an important role for NF1 in the biology of this type of melanoma.
摘要
促结缔组织增生性黑色素瘤(DM)是黑色素瘤中一种非常罕见的变异亚型,伴有不同的临床、组织病理和免疫表型特征。临床上,DM与传统型黑色素瘤不同,前者更易发生局部复发、少见局部淋巴结的转移播散。DM具有不同的组织形态学特征,通常在富于胶原性的基质中,散在分布一些低密度的梭形黑色素细胞。传统型黑色素瘤中已经鉴定出许多突变,包括BRAF、NRAS、GNAQ、GNA11和KIT,且这些突变的发生在一定程度上与组织病理学特征、解剖部位、和/或日光照射的方式有关,到目前为止DM中却不存在明显的突变。为了研究NF1突变与DM的潜在相关性,作者通过二代测序技术对15例DMs和20例non-DMs进行了基因突变分析。结果14/15(93%)的DMs和4/20(20%)的non-DMs中发现了NF1基因的突变。DMs中NF1的高频率突变表明NF1在这种亚型黑色素瘤生物学行为中扮演着重要的角色。
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