Department of Cellular Pathology, North Bristol NHS Trust, Bristol, UK.
J Clin Pathol. 2012 Mar;65(3):228-31. doi: 10.1136/jclinpath-2011-200344. Epub 2011 Oct 19.
To examine the clinicopathological features of a series of penile melanomas and screen for mutations in the BRAF and KIT genes, which are seen in melanomas from other sites.
12 patients with penile melanoma were identified over a 10-year period in two supra-regional networks in the UK. The 2- and 5-year survival was 61% and 20%, respectively. Half the patients had lymph node involvement at presentation; this was a poor prognostic indicator. KIT exons 11, 13, 17 and 18, and BRAF codons 600 and 601 were analysed for mutations by Sanger sequencing and pyrosequencing, respectively. None of the tumours showed either KIT mutations or the BRAF V600E mutation.
Penile melanomas are extremely rare and have a similar prognosis to melanomas elsewhere, but they often present late, leading to a poor outcome. The mutations seen in melanomas from other sites appear to be rarely present in these tumours.
研究一系列阴茎黑色素瘤的临床病理特征，并筛选 BRAF 和 KIT 基因的突变，这些突变可见于其他部位的黑色素瘤。
在英国的两个超区域网络中，在 10 年内确定了 12 例阴茎黑色素瘤患者。2 年和 5 年的生存率分别为 61%和 20%。一半的患者在就诊时存在淋巴结受累；这是一个预后不良的指标。通过 Sanger 测序和焦磷酸测序分别分析 KIT 外显子 11、13、17 和 18 以及 BRAF 密码子 600 和 601 的突变。肿瘤均未显示 KIT 突变或 BRAF V600E 突变。
阴茎黑色素瘤非常罕见，其预后与其他部位的黑色素瘤相似，但常晚期就诊，导致预后不良。其他部位黑色素瘤中出现的突变似乎很少出现在这些肿瘤中。
