Croix Manuel, Levallet Guénaëlle, Richard Nicolas, Bracquemart Claire, Tagmouti Taha, Dompmartin Anne, Kottler Diane, L'Orphelin Jean Matthieu
Dermatology Department, Caen University Hospital, Avenue Côte-de-Nacre, 14000 Caen, France.
Caen University, Medicine University, Rue des Rochambelles, 14032 Caen, France.
Heliyon. 2023 Jul 18;9(8):e18420. doi: 10.1016/j.heliyon.2023.e18420. eCollection 2023 Aug.
In metastatic stage, therapeutic approach for malignant melanoma is particularly based on performance status, metastatic sites, and status (/ or (class I mutations). In most cases, mutations and mutations are mutually exclusive to each other. However, some rare mutations class III are preferentially associated with a mutation, leading to the MAP Kinase pathway activation and subsequent cell proliferation. Melanomas with this double mutation are rare and difficult to treat because of the lack of codified therapeutic options. We report a patient with metastatic melanoma, harboring class III mutation (N581K) associated to mutation (Q61L) with treatment failure. He was treated in second line, after immunotherapy, by monotherapy of MEK inhibitor (MEKi), which underline the interest of NGS (Next Generation Sequencing) to early identify all mutations and enabling onco-dermatologist to discuss a treatment. Rare mutations represent 3 to 14% of melanoma mutants and the aim of this communication is to promote the next generation sequencing to extend the paradigm of individually therapeutic approach with target therapy into different spectrum of melanoma patients.
在转移阶段，恶性黑色素瘤的治疗方法尤其基于患者的体能状态、转移部位以及状态（/或（I类突变））。在大多数情况下，突变和突变相互排斥。然而，一些罕见的III类突变优先与突变相关，导致MAP激酶途径激活及随后的细胞增殖。具有这种双重突变的黑色素瘤很罕见且难以治疗，因为缺乏规范化的治疗方案。我们报告了一名转移性黑色素瘤患者，其携带与突变（Q61L）相关的III类突变（N581K）且治疗失败。他在免疫治疗后接受二线治疗，采用MEK抑制剂（MEKi）单药治疗，这凸显了二代测序（NGS）在早期识别所有突变并使肿瘤皮肤科医生能够讨论治疗方案方面的重要性。罕见的突变占黑色素瘤突变体的3%至14%，本报告的目的是推广二代测序，以将靶向治疗的个体化治疗模式扩展到不同类型的黑色素瘤患者。
