Background

Cyclin dependent kinase inhibitor 2A gene (CDKN2A) germline mutations have recently been associated with poor survival in patients with melanoma. Despite the high mutation rate in our cohort (up to 10% in patients with apparently sporadic melanoma), information on the impact of CDKN2A on survival in this cohort is lacking.

Objective

To investigate whether poor survival associated with CDKN2A germline mutations was confirmed in a high mutation–prevalence cohort of Italian patients with melanoma undergoing a mutation-based follow-up.

Methods

A total of 1239 patients with cutaneous melanoma were tested for CDKN2A mutational status and then assigned to a follow-up scheme according not only to family history but also to CDKN2A mutational status, as follow-up intervals were more frequent for CDKN2A germline mutation–positive (MUT⁺) patients. From this cohort, we selected 106 MUT⁺ patients (with familial melanoma or apparently sporadic melanoma) and 199 CDKN2A germline mutation–negative (MUT^–) patients with sporadic melanoma who were matched by age and sex and had a similar tumor stage distribution.

Results

We found no difference in overall survival (hazard ratio, 0.85; 95% confidence interval, 0.48-1.52; P = .592,) or melanoma-specific survival (hazard ratio, 0.86; 95% confidence interval, 0.38-1.95; P = .718,) between MUT⁺ and MUT^– patients. MUT⁺ patients were more likely to develop multiple melanomas and to undergo surgical excision of dysplastic nevi than were MUT^– patients.

Limitations

Retrospective study.

Conclusion

CDKN2A mutations were not associated with survival in our cohort.

中文翻译：

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在一个意大利黑素瘤患者队列中，CDKN2A种系突变与存活率低无关

背景

细胞周期蛋白依赖性激酶抑制剂2A基因（CDKN2A）的种系突变最近与黑色素瘤患者的不良生存有关。尽管我们队列中的突变率很高（在明显的散发性黑色素瘤患者中高达10％），但仍缺乏有关CDKN2A对该队列生存的影响的信息。

客观的

为了研究在患有突变的意大利黑素瘤患者的突变率较高的队列中，是否证实了与CDKN2A种系突变相关的较差的存活率。

方法

总共有1239例皮肤黑色素瘤进行了测试CDKN2A突变状态，然后分配到不仅根据家族史，也为后续方案CDKN2A突变状态，为后续的时间间隔是更频繁的CDKN2A胚系突变阳性（MUT ⁺）患者。从这一队列中，我们选择了106例MUT ⁺患者（家族性黑色素瘤或明显散发性黑色素瘤）和199例CDKN2A生殖系突变阴性（MUT ^–）散发性黑色素瘤患者，其年龄和性别相匹配，并且肿瘤分期相似。

结果

我们发现总体生存率（危险比，0.85； 95％置信区间，0.48-1.52；P  = .592，）或黑素瘤特异性生存率（危险比，0.86； 95％置信区间，0.38-1.95；P  = .718，）在MUT ⁺和MUT ^–患者之间。MUT ⁺患者更容易患多发性黑色素瘤和接受发育不良痣的手术切除比分别为MUT ^-患者。

局限性

回顾性研究。

结论

CDKN2A突变与我们队列中的生存率无关。