Deinlein Teresa, Wolf Ingrid H, Rainer Barbara, Kupsa Romana, Richtig Erika, Hofmann-Wellenhof Rainer, Zalaudek Iris
Department of Dermatology, Medical University of Graz, Graz, Austria.
Case Rep Oncol. 2017 Jun 22;10(2):558-563. doi: 10.1159/000477563. eCollection 2017 May-Aug.
Mucosal melanoma of the oral cavity is a rare entity and accounts for less than 1-3% of all melanomas. Contrary to cutaneous melanoma, primary oral melanoma more commonly harbors mutations in c-KIT.
A 64-year-old man presented with asymptomatic, multiple, brown-to-black macules in the oral cavity. A biopsy was taken and histopathology exhibited mucosal melanoma. In molecular analysis, a c-KIT mutation was proven and a CT scan revealed pulmonary metastases. Due to the multifocality of the lesions, the metastases, and the mutation status, a therapy with imatinib was initiated.
After 1 year of therapy, progressive disease in the lung was noticed. Therefore, the therapy was switched to a PD-1 antagonist and a CTL-4 antibody.
Our case suggests that imatinib may be considered as first-line treatment for both locally advanced and distant primary multifocal oral melanoma, for which surgery or radiotherapy of the primary tumor is impossible.
口腔黏膜黑色素瘤是一种罕见的疾病，占所有黑色素瘤的比例不到1%至3%。与皮肤黑色素瘤相反，原发性口腔黑色素瘤更常见于c-KIT基因发生突变。
一名64岁男性患者口腔内出现无症状的多个棕色至黑色斑疹。进行了活检，组织病理学显示为黏膜黑色素瘤。分子分析证实存在c-KIT突变，CT扫描显示有肺转移。由于病变的多灶性、转移情况以及突变状态，开始使用伊马替尼进行治疗。
治疗1年后，发现肺部疾病进展。因此，治疗改为使用PD-1拮抗剂和CTL-4抗体。
我们的病例表明，对于无法进行原发性肿瘤手术或放疗的局部晚期和远处原发性多灶性口腔黑色素瘤，伊马替尼可被视为一线治疗药物。
