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CDKN2A 突变型黑色素瘤家族监测的有效性及失败原因。

Effectiveness and causes for failure of surveillance of CDKN2A-mutated melanoma families.

机构信息

Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands.

Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands; Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

出版信息

J Am Acad Dermatol. 2011 Aug;65(2):289-296. doi: 10.1016/j.jaad.2010.06.067. Epub 2011 May 12.

Abstract

BACKGROUND

For more than 25 years families with an increased susceptibility to melanoma have been under surveillance at our institution.

OBJECTIVE

We sought to investigate the effectiveness of surveillance for CDKN2A-mutated families and causes for failure of the program in patients with more advanced tumors.

METHODS

In a retrospective case-control study, Breslow thickness of melanomas diagnosed in relatives enrolled in the surveillance program were compared with melanomas of unscreened index patients. We investigated the influence of mode of detection and length of surveillance interval on outcome.

RESULTS

Surveillance melanomas (n = 226, median thickness: 0.50 mm) had a significantly lower Breslow thickness (multiplication factor: 0.61 [95% confidence interval 0.47-0.80], P < .001) than index melanomas (n = 40, median thickness: 0.98 mm). Index melanomas were more likely diagnosed with a Breslow thickness greater than 1.0 mm (odds ratio: 3.1 [95% confidence interval 1.2-8.1], P = .022). In all, 53% of surveillance melanomas were diagnosed during regular screens, 7% during patients' first screen, 20% between regular screens, and 20% in patients who were noncompliant with the surveillance schedule. The majority of surveillance melanomas (58%) were detected within 6 months after the last screen. There was no correlation between tumor thickness and the length of the screening interval for tumors diagnosed within 24 months since the last screen.

LIMITATIONS

The study is retrospective.

CONCLUSIONS

Surveillance was associated with earlier detection of melanomas. Noncompliance was an important cause for failing surveillance. Shortening surveillance intervals may advance detection of tumors, but may paradoxically have little impact on prognosis.

摘要

背景

在我们的机构中,超过 25 年以来,有增加患黑色素瘤风险的家族一直在接受监测。

目的

我们旨在研究针对 CDKN2A 突变家族的监测的有效性,以及该方案在肿瘤进展患者中失败的原因。

方法

在一项回顾性病例对照研究中,我们比较了参加监测计划的亲属中诊断出的黑色素瘤的 Breslow 厚度与未经筛选的指数患者的黑色素瘤。我们调查了检测方式和监测间隔时间长短对结果的影响。

结果

监测黑色素瘤(n=226,中位厚度:0.50mm)的 Breslow 厚度明显较低(倍增因子:0.61[95%置信区间 0.47-0.80],P<0.001),而指数黑色素瘤(n=40,中位厚度:0.98mm)。指数黑色素瘤更有可能被诊断为 Breslow 厚度大于 1.0mm(比值比:3.1[95%置信区间 1.2-8.1],P=0.022)。在所有监测黑色素瘤中,53%是在常规筛查中诊断的,7%是在患者的第一次筛查中诊断的,20%是在常规筛查之间诊断的,20%是在不遵守监测计划的患者中诊断的。大多数监测黑色素瘤(58%)是在最后一次筛查后 6 个月内发现的。在距离上一次筛查 24 个月内诊断出的肿瘤中,肿瘤厚度与筛查间隔时间之间没有相关性。

局限性

该研究是回顾性的。

结论

监测与黑色素瘤的早期发现有关。不遵守监测是失败的重要原因。缩短监测间隔时间可能会提前发现肿瘤,但可能对预后几乎没有影响。

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