Proietti Ilaria, Azzella Giulia, Dirzu Diana, Di Cristofano Claudio, Bagni Oreste, Potenza Concetta, Filippi Luca
Dermatology Unit "Daniele Innocenzi", "A. Fiorini" Hospital, Via Firenze, 1, 04019 Terracina, Italy.
Department of Dermatology, Grigore T. Popa University of Medicine and Pharmacy, Railway Clinical Hospital, 700506 Iasi, Romania.
Diagnostics (Basel). 2024 Dec 19;14(24):2860. doi: 10.3390/diagnostics14242860.
Cutaneous malignant melanoma (MM) is the most aggressive form of skin cancer, associated with high mortality and rising incidence rates in Europe despite prevention efforts. Nodular MM, the most aggressive subtype, often mimics other skin tumors, complicating diagnosis. We present the case of a 66-year-old woman with a large, ulcerated tumor beneath the left scapula, along with multiple nodular lesions on the left arm and chest. Initially suspected to be an aggressive squamous cell carcinoma, the diagnosis was confirmed as invasive cutaneous MM with a BRAF(V600) mutation via biopsy. Staging with PET/CT revealed extensive glucose metabolism in the tumors and surrounding tissues, as well as metastatic lymphadenopathy. The disease was classified as stage IV (T4bN3cM1a0). Neoadjuvant systemic therapy with BRAF and MEK inhibitors (Dabrafenib and Trametinib) was initiated to reduce tumor size. Remarkable regression was observed within a week, with further reduction in tumor size after one month. A follow-up PET/CT after 3 months showed significant decreases in tracer uptake and lesion size, with a ΔSUVmax of 51.9%, a ΔMTV of 74.5%, and a ΔTLG of 83.5%, indicating an excellent response to targeted therapy.
皮肤恶性黑色素瘤(MM)是最具侵袭性的皮肤癌形式,尽管采取了预防措施,但在欧洲其死亡率高且发病率不断上升。结节性MM是最具侵袭性的亚型,常与其他皮肤肿瘤相似,使诊断复杂化。我们报告了一名66岁女性的病例,其左肩胛骨下方有一个大的溃疡肿瘤,左臂和胸部还有多个结节性病变。最初怀疑是侵袭性鳞状细胞癌,经活检确诊为具有BRAF(V600)突变的侵袭性皮肤MM。PET/CT分期显示肿瘤及周围组织有广泛的葡萄糖代谢,以及转移性淋巴结病。该疾病被分类为IV期(T4bN3cM1a0)。开始使用BRAF和MEK抑制剂(达拉非尼和曲美替尼)进行新辅助全身治疗以缩小肿瘤大小。一周内观察到显著消退,一个月后肿瘤大小进一步缩小。3个月后的随访PET/CT显示示踪剂摄取和病变大小显著降低,ΔSUVmax为51.9%,ΔMTV为74.5%,ΔTLG为83.5%,表明对靶向治疗反应良好。