Goldemberg Daniel Cohen, Thuler Luiz Claudio Santos, de Melo Andreia Cristina
Daniel Cohen Goldemberg, MD, Clinical Research Division, National Cancer Institute , COPQ/INCA, Rua André Cavalcanti, 37 - 5º andar Anexo Centro , Rio de Janeiro , Brazil;
Acta Dermatovenerol Croat. 2019 Mar;27(1):11-15.
By definition, mucosal melanomas are malignant primary tumors originating from melanocytes located in the mucosal membranes of the nasal cavity and accessory sinuses, oral cavity, lips and pharynx, and vulvar, vaginal or uterus, anorectal, or basically any other part of the mucosal surface lining. These malignant melanomas usually occur in occult sites, which in combination with the lack of early specific signs contributes to the delay in diagnosis and poor prognosis of the disease. Given the rarity of mucosal melanomas, knowledge about their pathogenesis and risk factors is insufficient and when compared with cutaneous and ocular melanoma, they have the lowest five-year survival rate. Surgical resection is frequently the first approach to primary tumors, even though the utility of lymph node surgery and radiation therapy is not well established. Novel molecular techniques such as whole exome sequencing have become routine in order to aid patient care. They show great promise in the treatment of rare and usually fatal diseases such as mucosal melanomas. Target therapy against c-KIT activating mutations, frequently seen in mucosal melanomas, and the immunotherapy have emerged as a promising treatment modality for these aggressive tumors.
根据定义，黏膜黑色素瘤是起源于鼻腔和鼻窦、口腔、嘴唇和咽部、外阴、阴道或子宫、肛门直肠或基本上任何其他黏膜表面衬里部位的黑色素细胞的原发性恶性肿瘤。这些恶性黑色素瘤通常发生在隐匿部位，再加上缺乏早期特异性体征，导致疾病诊断延迟和预后不良。鉴于黏膜黑色素瘤的罕见性，关于其发病机制和危险因素的知识不足，与皮肤和眼部黑色素瘤相比，它们的五年生存率最低。手术切除通常是原发性肿瘤的首选方法，尽管淋巴结手术和放射治疗的效用尚未明确确立。为了辅助患者护理，诸如全外显子组测序等新型分子技术已成为常规手段。它们在治疗诸如黏膜黑色素瘤等罕见且通常致命的疾病方面显示出巨大潜力。针对在黏膜黑色素瘤中常见的c-KIT激活突变的靶向治疗以及免疫疗法已成为这些侵袭性肿瘤的一种有前景的治疗方式。
