Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Rockefeller University, New York, New York, USA.
J Immunother Cancer. 2024 Nov 17;12(11):e009609. doi: 10.1136/jitc-2024-009609.
Melanoma arising in association with a blue nevus (BN) is rare but has molecular similarities to uveal melanoma (UM), including GNAQ/11 mutations. Tebentafusp was recently approved for UM based on improved overall survival in a phase 3 study. We hypothesized that tebentafusp may be active in BN-associated melanoma. Here, we present a case of metastatic BN-associated melanoma with rapid response and ~1 year of disease control on tebentafusp. We also explore molecular and histological features of secondary resistance. Our case highlights that PD-1-resistant melanomas should be screened for GNAQ/11 mutations, as tebentafusp may be a treatment option in this extremely rare disease.
与蓝痣（BN）相关的黑色素瘤很少见，但具有与葡萄膜黑色素瘤（UM）相似的分子特征，包括 GNAQ/11 突变。基于 3 期研究中总体生存率的改善，特贝西普最近被批准用于 UM。我们假设特贝西普可能对 BN 相关黑色素瘤有效。在此，我们报告了一例转移性 BN 相关黑色素瘤，特贝西普治疗后快速缓解，疾病控制时间约为 1 年。我们还探讨了继发耐药的分子和组织学特征。我们的病例强调，应筛查 PD-1 耐药黑色素瘤的 GNAQ/11 突变，因为特贝西普可能是这种极为罕见疾病的治疗选择。
