Guźniczak Adrian, Sosnowska-Sienkiewicz Patrycja, Szydłowski Jarosław, Kurzawa Paweł, Januszkiewicz-Lewandowska Danuta
Faculty of Medicine, Poznan University of Medical Sciences, Fredry 10 Street, 61-701 Poznan, Poland.
Department of Pediatric Surgery, Medical University of Warsaw, Żwirki i Wigury 63A Street, 02-091 Warsaw, Poland.
Genes (Basel). 2025 Aug 6;16(8):937. doi: 10.3390/genes16080937.
Conventional melanoma is exceedingly rare in the pediatric population, particularly among prepubescent children, and its diagnosis and management necessitate a multidisciplinary approach. The objective of this present report is to delineate the diagnostic pathway and therapeutic management of a 4-year-old girl with conventional melanoma, with particular focus on the molecular context. A pigmented lesion located on the auricle was surgically excised, and subsequent histopathological and immunohistochemical analyses confirmed the diagnosis of malignant melanoma (pT3b). Radiologic investigations revealed no evidence of metastatic disease, and comprehensive genetic testing utilizing next-generation sequencing (NGS) identified no pathogenic variants in the germline genes examined, nor in the , , , and genes within the excised lesion. The patient remains in good general health. This case report adds to the limited body of literature on melanoma in pediatric patients and underscores the importance of thorough diagnostic evaluation in this age group.
传统型黑色素瘤在儿童群体中极为罕见,尤其是在青春期前儿童中,其诊断和管理需要多学科方法。本报告的目的是描述一名4岁传统型黑色素瘤女孩的诊断途径和治疗管理,特别关注分子背景。耳廓上的一个色素沉着病变被手术切除,随后的组织病理学和免疫组织化学分析证实为恶性黑色素瘤(pT3b)。影像学检查未发现转移疾病的证据,利用下一代测序(NGS)进行的全面基因检测在检测的种系基因中未发现致病变异,在切除病变中的、、和基因中也未发现。患者总体健康状况良好。本病例报告增加了关于儿科患者黑色素瘤的有限文献,并强调了该年龄组进行全面诊断评估的重要性。