Increasingly, molecular methods are being utilized in the workup of melanocytic neoplasms. To this end, we sought to correlate data from a single nucleotide polymorphism (SNP) array platform based on molecular inversion probes with clinical data. Copy number variation (CNV) data were obtained on 95 melanocytic tumors (6 ordinary nevi, 15 atypical nevi, 34 ambiguous neoplasms, and 40 melanomas) from 92 patients. The average number of significant CNVs was 0 for nevi, 0.6 for atypical nevi (range 0-3), 2.8 for ambiguous neoplasms (range 0-17), and 18.1 for melanomas (range 0-69). Clinical follow-up data were available in 57 of 95 lesions (56 of 92 patients). Tumors from patients with adverse events demonstrated an average number of CNVs of 24.5 (range 6-69) as compared with 7.9 (range 0-35) among tumors without an associated adverse event (p ≤ 0.001). No adverse events were observed in nevi including atypical nevi. Adverse events were found in 2 of 19 ambiguous neoplasms and 10 of 32 melanomas with follow up. In these two latter groups of neoplasms, the correlation between adverse events and the average number of CNVs remained statistically significant even when controlled for Breslow depth (21.5 versus 8.7, p value = 0.036). No neoplasm with adverse events had ≤3 CNVs. These results provide further evidence that SNP array testing for CNVs may be helpful in the classification and prognostication of ambiguous neoplasms. Based on these results, an algorithmic approach to challenging melanocytic neoplasms using CNV data is suggested, using as cutoff of >3 CNVs with some caveats, as the threshold for a positive result. Future clinical validation, using a larger cohort of relevant tumors, will be necessary.

中文翻译：

---

DNA 拷贝数变化与黑色素细胞肿瘤的临床行为相关：算法方法的提议。

越来越多的分子方法被用于黑素细胞肿瘤的检查。为此，我们试图将基于分子倒置探针的单核苷酸多态性 (SNP) 阵列平台的数据与临床数据相关联。从 92 名患者的 95 个黑色素细胞肿瘤（6 个普通痣、15 个非典型痣、34 个不明肿瘤和 40 个黑色素瘤）中获得拷贝数变异 (CNV) 数据。痣的显着 CNV 平均数为 0，非典型痣为 0.6（范围 0-3），不明肿瘤为 2.8（范围 0-17），黑色素瘤为 18.1（范围 0-69）。95 个病灶中有 57 个（92 名患者中的 56 名）有临床随访数据。来自有不良事件的患者的肿瘤显示 CNV 的平均数量为 24.5（范围 6-69），而没有相关不良事件的肿瘤为 7.9（范围 0-35）（p ≤ 0.001）。在包括非典型痣在内的痣中未观察到不良事件。在 19 例不明肿瘤中的 2 例和 32 例黑色素瘤中的 10 例中发现了不良事件并进行了随访。在后两组肿瘤中，不良事件与 CNV 平均数之间的相关性在控制 Breslow 深度时仍然具有统计学意义（21.5 对 8.7，p 值 = 0.036）。没有发生不良事件的肿瘤有 ≤3 个 CNV。这些结果提供了进一步的证据，表明 CNV 的 SNP 阵列测试可能有助于模糊肿瘤的分类和预后。基于这些结果，提出了一种使用 CNV 数据来挑战黑素细胞肿瘤的算法方法，使用 >3 CNV 的截止值和一些警告作为阳性结果的阈值。未来的临床验证，使用更大的相关肿瘤队列，