Department of Dermatology, University of Modena and Reggio Emilia, Modena, Italy.
Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Centro Oncologico ad Alta Tecnologia Diagnostica-Dermatologia, Reggio Emilia, Italy.
J Eur Acad Dermatol Venereol. 2021 Feb;35(2):403-410. doi: 10.1111/jdv.16679. Epub 2020 Jul 28.
MC1R polymorphisms interact with CDKN2A mutations modulating melanoma risk and contribute to a less suspicious clinical and dermoscopic appearance of melanomas. Different strategies, including dermoscopic comparative approach and digital monitoring, are used for the melanoma diagnosis in this context.
To analyse the diagnostic accuracy of the morphologic approach and comparative approach in dermoscopy, and to detect melanoma in familial melanoma (FamMM) patients according to different genetic backgrounds.
Two independent readers evaluated 415 lesions belonging to 25 FamMM: 26 melanomas (62% in situ, 36% early invasive) and 389 naevi, blinded for dermoscopic and histopathologic diagnosis, following two different steps. First step-Randomized: all lesions were randomly located in one single folder. Second step-Comparative approach: the lesions were clustered by patient. Sensitivity, specificity and number needed to excise (NNE) for melanoma diagnosis were calculated for both diagnostic strategies. Sensitivity and specificity were also assessed regarding the genetic background.
The comparative approach showed lower sensitivity compared to the morphologic approach (69.2 and 73.1 vs. 76.9 both readers) but better specificity (95.9 and 95.1 vs. 84.3 and 90.2, respectively). NNE was better in the comparative approach. The readers had more difficulties diagnosing lesions from CDKN2A mutation carriers with red hair colour (RHC) MC1R variants.
The comparative approach can be useful in high-risk patients to decrease the NNE. Early melanomas in CDKN2A carriers with RHC polymorphisms are more difficult to diagnose even with the comparative approach and benefit from the detection of changes during digital dermoscopy monitoring for early diagnosis.
MC1R 多态性与 CDKN2A 突变相互作用，调节黑色素瘤风险，并导致黑色素瘤的临床和皮肤镜表现不太可疑。在这种情况下，为了诊断黑色素瘤，使用了不同的策略，包括皮肤镜比较方法和数字监测。
分析皮肤镜检查中形态学方法和比较方法的诊断准确性，并根据不同的遗传背景检测家族性黑色素瘤（FamMM）患者中的黑色素瘤。
两名独立的读者评估了 25 名 FamMM 患者的 415 个病变：26 个黑色素瘤（62%原位，36%早期浸润）和 389 个痣，对其进行皮肤镜和组织病理学诊断，在两个不同的步骤中进行盲法评估。第一步-随机：所有病变随机放置在一个文件夹中。第二步-比较方法：根据患者聚类病变。计算两种诊断策略诊断黑色素瘤的敏感性、特异性和需要切除的数量（NNE）。还评估了遗传背景对敏感性和特异性的影响。
与形态学方法相比，比较方法的敏感性较低（两位读者分别为 69.2%和 73.1%，76.9%），但特异性较高（95.9%和 95.1%，84.3%和 90.2%）。比较方法的 NNE 更好。读者在诊断来自 CDKN2A 突变携带者和红发 MC1R 变体的病变时遇到更多困难。
比较方法可用于高危患者，以降低 NNE。具有 RHC 多态性的 CDKN2A 突变携带者中的早期黑色素瘤即使使用比较方法也更难诊断，并且受益于数字皮肤镜监测的变化检测，以实现早期诊断。
