aDepartment of Neurosciences, University of Padua, Padua bDepartment of Diagnostic and Clinical Medicine and Public Health cDepartment of Dermatology, University of Modena and Reggio Emilia, Modena, Italy dDepartment of Oral Medicine, Carolinas Medical Center, Charlotte, North Carolina, USA.
Melanoma Res. 2014 Jun;24(3):267-72. doi: 10.1097/CMR.0000000000000057.
Single primary and multiple primary melanomas (MPMs) of the head and neck region may be confused at first glance because of the common clinical and dermoscopic patterns. An inaccurate diagnosis may lead the clinician to a wrong diagnostic and therapeutic pathway because MPMs occurring in familial or sporadic settings are often involved in individual cancer susceptibility. We investigated the clinical, demographic, histological, and survival differences between MPMs and single melanoma occurring in the head and neck region. A retrospective analysis of medical and histologic records from 217 melanomas of the head and neck region was carried out. Malignant neoplasms affecting MPMs patients were also reported. Mutational analysis of specific genes was carried out when clinical data and family history were suggestive for a familial/hereditary setting. Two hundred and five out of 217 (94.5%) patients were affected by single primary melanoma and 12 (5.5%) by MPMs of the head and neck region. Individuals affected by MPMs were distinguished by a significantly higher mutation frequency and a higher prevalence of malignant neoplasms such as renal cancer. Genetic testing showed germline mutations affecting MITF E318K, CDKN2A genes. Our data highlight the importance of strict cancer surveillance in individuals with MPMs and the role of appropriate genetic counseling and testing in selected patients. Finally, personalized clinical and instrumental screening and follow-up strategies should also be based on mutational status. A heightened level of suspicion is required in the clinical management of mutation carriers.
头颈部单发和多发黑色素瘤（MPM）可能由于常见的临床和皮肤镜表现而在初诊时混淆。不准确的诊断可能会导致临床医生采取错误的诊断和治疗方法，因为家族性或散发性 MPM 通常与个体癌症易感性有关。我们研究了头颈部 MPM 和单发黑色素瘤之间的临床、人口统计学、组织学和生存差异。对 217 例头颈部黑色素瘤的医疗和组织学记录进行了回顾性分析。还报告了影响 MPM 患者的恶性肿瘤。当临床数据和家族史提示家族/遗传性背景时，对特定基因进行了突变分析。217 例患者中有 205 例（94.5%）患有单发原发性黑色素瘤，12 例（5.5%）患有头颈部 MPM。受 MPM 影响的个体的突变频率明显更高，并且更常发生恶性肿瘤，如肾癌。基因检测显示影响 MITF E318K、CDKN2A 基因的种系突变。我们的数据强调了在 MPM 个体中进行严格癌症监测的重要性，以及在选定患者中进行适当遗传咨询和检测的作用。最后，还应根据突变状态制定个性化的临床和仪器筛查和随访策略。在突变携带者的临床管理中需要提高警惕。
