Department of Pathology, Radboud University Medical Centre, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands,
Virchows Arch. 2014 Feb;464(2):247-51. doi: 10.1007/s00428-014-1542-5. Epub 2014 Jan 24.
Malignant melanomas are known for their remarkable morphological variation and aberrant immunophenotype with loss of lineage-specific markers, especially in recurrences and metastases. Hot spot mutations in BRAF, NRAS, GNAQ, and GNA11 and mutations in KIT are oncogenic events in melanomas. Therefore, genotyping can be a useful ancillary diagnostic tool. We present one case each of recurrent and metastatic melanoma, both showing histological and immunohistochemical features of solitary fibrous tumor (SFT). Mutational analysis detected BRAF and NRAS mutations in the primary and secondary lesions, respectively. This result confirmed the diagnosis of recurrent/metastastic melanoma.
恶性黑色素瘤以其显著的形态学变异和谱系特异性标志物缺失的异常免疫表型为特征，尤其是在复发和转移中。BRAF、NRAS、GNAQ 和 GNA11 的热点突变以及 KIT 的突变是黑色素瘤中的致癌事件。因此，基因分型可以作为一种有用的辅助诊断工具。我们分别介绍了一例复发性和转移性黑色素瘤病例，这两个病例均表现为孤立性纤维瘤（SFT）的组织学和免疫组织化学特征。突变分析分别在原发性和继发性病变中检测到 BRAF 和 NRAS 突变。这一结果证实了复发性/转移性黑色素瘤的诊断。
