Cakir Aysel, Elcin Gonca, Kilickap Saadettin, Gököz Özay, Taskiran Zihni Ekim, Celik İsmail
Hacettepe University Faculty of Medicine, Department of Dermatology and Venerology, Ankara, Turkey.
Hacettepe University Faculty of Medicine, Department of Medical Oncology, Ankara, Turkey.
Dermatol Pract Concept. 2023 Jul 1;13(3):e2023146. doi: 10.5826/dpc.1303a146.
Most melanoma patients under our supervision lack characteristic phenotypic features for melanoma. In contrast, history of cancers other than melanoma and early age at onset were common. This observation was in favor of hereditary melanoma.
To search for the phenotypic and genetic features that differ between sporadic and hereditary melanomas.
In order to reveal phenotypic features, detailed physical exam was conducted to all melanoma patients (N = 43) and for genetic features. CDKN2A and MC1R mutations were detected with Sanger sequencing method. Assignment to hereditary and sporadic groups was done according to the "melanoma cancer syndrome assessment tool". Patients who were diagnosed before the age of 50 were also assigned to the hereditary melanoma group.
Thirty-one patients were assigned to the hereditary group and 12 to the sporadic group. Fair eye color was statistically significantly higher in the sporadic group (P = 0.000). CDKN2A was detected in only 1 patient in the hereditary group. MC1R mutations were found in 12 out of 13 (92.3%) in the hereditary group with a score =3 points, 13 out of 18 (72.2%) in the early age at onset group and 5 out of 12 (41.7%) in the sporadic group (P = 0.024).
Incidence of CDKN2A mutations in our hereditary group is in accordance with the reported incidences from Mediterranean countries. The difference between the hereditary and sporadic groups in terms of MC1R mutations supports the idea that MC1R genetic testing might help to determine patients with higher risk for hereditary melanoma.
在我们的监督下，大多数黑色素瘤患者缺乏黑色素瘤的典型表型特征。相比之下，黑色素瘤以外的癌症病史和发病年龄较早则较为常见。这一观察结果支持遗传性黑色素瘤的观点。
寻找散发性和遗传性黑色素瘤之间不同的表型和遗传特征。
为了揭示表型特征，对所有黑色素瘤患者（N = 43）进行了详细的体格检查，并检测遗传特征。采用桑格测序法检测CDKN2A和MC1R突变。根据“黑色素瘤癌症综合征评估工具”将患者分为遗传性和散发性两组。50岁之前被诊断的患者也被归入遗传性黑色素瘤组。
31例患者被归入遗传性组，12例被归入散发性组。散发性组中浅色眼睛的比例在统计学上显著更高（P = 0.000）。遗传性组中仅1例患者检测到CDKN2A。遗传性组中13例中有12例（92.3%）发现MC1R突变，评分为3分；发病年龄较早组中18例中有13例（72.2%）；散发性组中12例中有5例（41.7%）（P = 0.024）。
我们遗传性组中CDKN2A突变的发生率与地中海国家报道的发生率一致。遗传性和散发性组在MC1R突变方面的差异支持了MC1R基因检测可能有助于确定遗传性黑色素瘤高风险患者的观点。
