Department of Pathology, Poznan University Medical Sciences and Greater Poland Cancer Center, 61-701 Poznan, Poland.
Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
Cells. 2021 Aug 27;10(9):2216. doi: 10.3390/cells10092216.
The prognostic value of commonly recurrent mutations remains unclear in mucosal melanomas.
Clinicopathologic parameters of 214 cases of mucosal melanomas diagnosed in 1989-2020 in several clinical institutions were analyzed. , , , and mutational analyses by Sanger sequencing and next generation sequencing-based assay were performed in a subset of cases.
Of the triple (, , )-negative cases, , and are detected mainly in sinonasal, vulvovaginal and anorectal melanomas, respectively. , , , and mutations are detected in 19% (37/198), 22% (44/197), 12% (25/201), 16% (22/138) and 15% (20/133) of cases, respectively. In univariate analyses, advanced stage ( = 0.016), 65 years or older ( = 0.048) and presence of ulceration ( = 0.027) are significantly correlated with worse overall survival (OS), respectively. mutation significantly correlates with worse OS ( = 0.028) and worse melanoma-specific survival (MSS) ( = 0.03) for all cases of mucosal melanomas. In multivariate analyses, mutation remains as an independent predictor of worse OS ( = 0.036) and worse MSS ( = 0.024).
mutation is a predictor of worse survival, independent of stage in mucosal melanomas. The significance of frequently mutated in mucosal melanomas remains unclear.
在黏膜黑色素瘤中，常见复发突变的预后价值仍不清楚。
分析了 1989 年至 2020 年在多个临床机构诊断的 214 例黏膜黑色素瘤患者的临床病理参数。对部分病例进行了 Sanger 测序和下一代测序的 、 、 、 和 突变分析。
在三重（、、）阴性病例中，、和主要在鼻旁窦、外阴阴道和肛门直肠黑色素瘤中检测到。在 19%（37/198）、22%（44/197）、12%（25/201）、16%（22/138）和 15%（20/133）的病例中分别检测到 、 、 、 和 突变。单因素分析显示，晚期（=0.016）、65 岁或以上（=0.048）和溃疡存在（=0.027）与总生存（OS）较差显著相关。突变与所有黏膜黑色素瘤患者的 OS（=0.028）和 MSS（=0.03）较差显著相关。多因素分析显示，突变仍然是 OS（=0.036）和 MSS（=0.024）较差的独立预测因素。
突变是生存的预测因素，与黏膜黑色素瘤的分期无关。在黏膜黑色素瘤中，频繁突变的 意义仍不清楚。
