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薄型皮肤黑色素瘤的转移风险:临床病理特征和突变谱的预后价值

Metastases risk in thin cutaneous melanoma: prognostic value of clinical-pathologic characteristics and mutation profile.

作者信息

Richetta Antonio G, Valentini Virginia, Marraffa Federica, Paolino Giovanni, Rizzolo Piera, Silvestri Valentina, Zelli Veronica, Carbone Anna, Di Mattia Cinzia, Calvieri Stefano, Frascione Pasquale, Donati Pietro, Ottini Laura

机构信息

Department of Internal Medicine and Medical Specialties, Unit of Dermatology, "Sapienza" University of Rome, Rome, Italy.

Department of Molecular Medicine, "Sapienza" University of Rome, Rome, Italy.

出版信息

Oncotarget. 2018 Aug 14;9(63):32173-32181. doi: 10.18632/oncotarget.25864.

DOI:10.18632/oncotarget.25864
PMID:30181807
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6114949/
Abstract

BACKGROUND

A high percentage of patients with thin melanoma (TM), defined as lesions with Breslow thickness ≤1 mm, presents excellent long-term survival, however, some patients develop metastases. Existing prognostic factors cannot reliably differentiate TM patients at risk for metastases.

OBJECTIVE

We aimed at characterizing the clinical-pathologic and mutation profile of metastatic and not-metastatic TM in order to distinguish lesions at risk of metastases.

METHODS

Clinical-pathologic characteristics were recorded for the TM cases analyzed. We used a Next Generation Sequencing (NGS) multi-gene panel to characterize TM for multiple somatic mutations.

RESULTS

A statistically significant association emerged between the presence of metastases and Breslow thickness ≥0.6 mm (). None of TM with lymph-node involvement had Breslow thickness <0.6 mm. Somatic mutations were identified in 19 of 21 TM analyzed (90.5%). No mutations were observed in two not-metastatic cases with the lowest Breslow thickness (≤0.4 mm), whereas mutations in more than one gene were detected in one metastatic case with the highest Breslow thickness (1.00 mm).

CONCLUSION

Our study indicates Breslow thickness ≥0.6 mm as a valid prognostic factor to distinguish TM at risk for metastases.

摘要

背景

薄型黑色素瘤(TM)患者,即定义为Breslow厚度≤1mm的病灶,有很高比例呈现出良好的长期生存率,然而,一些患者会发生转移。现有的预后因素无法可靠地区分有转移风险的TM患者。

目的

我们旨在描述转移性和非转移性TM的临床病理及突变特征,以区分有转移风险的病灶。

方法

记录所分析的TM病例的临床病理特征。我们使用下一代测序(NGS)多基因panel来描述TM的多个体细胞突变特征。

结果

转移的存在与Breslow厚度≥0.6mm之间出现了统计学上显著的关联()。所有有淋巴结受累的TM的Breslow厚度均≥0.6mm。在21例分析的TM中,19例(90.5%)鉴定出体细胞突变。在两个Breslow厚度最低(≤0.4mm)的非转移病例中未观察到突变,而在一个Breslow厚度最高(1.00mm)的转移病例中检测到一个以上基因的突变。

结论

我们的研究表明,Breslow厚度≥0.6mm是区分有转移风险的TM的有效预后因素。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/abd5/6114949/54fd9b6c9680/oncotarget-09-32173-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/abd5/6114949/54fd9b6c9680/oncotarget-09-32173-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/abd5/6114949/54fd9b6c9680/oncotarget-09-32173-g001.jpg

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