Lynch Meghan M, Hermida-Viveiros Pedro, Stencel Sean, Knott Hannah, Al-Maryati Rusul, Obeidin Farres, Alexiev Borislav A, Abbinanti Susan, Damodaran Senthil, Agulnik Mark, Pollack Seth M
Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago, USA.
Department of Medicine, MD Anderson Cancer Center, Houston, USA.
Rare Tumors. 2025 Jan 7;17:20363613241309961. doi: 10.1177/20363613241309961. eCollection 2025.
Ameloblastoma is a rare tumor arising from odontogenic cells that is benign, yet locally aggressive. Metastasizing ameloblastoma (METAM) is an ultra-rare ameloblastoma variant in which both primary and secondary tumors have histological features of benign ameloblastoma. This is a case report of a patient who presented with a jaw mass and subsequent lung metastases, later diagnosed as METAM. Initial treatments, including carboplatin, etoposide, and taxane-based chemotherapy, were ineffective. Molecular profiling revealed mutations including PIK3CA H1047R and BRAF V600E. The patient was enrolled in a tumor-agnostic trial and began treatment with copanlisib, a PI3K inhibitor, which resulted in a partial response and durable disease regression. After 76 cycles, she continues to tolerate therapy well with minimal adverse events. This case highlights the potential of targeted therapies such as copanlisib for treating METAM, providing a promising therapeutic option for patients with PIK3CA mutations.
成釉细胞瘤是一种起源于牙源性细胞的罕见肿瘤，它是良性的，但具有局部侵袭性。转移性成釉细胞瘤（METAM）是一种极为罕见的成釉细胞瘤变体，其中原发性和继发性肿瘤均具有良性成釉细胞瘤的组织学特征。本文报告了一例患者，该患者最初表现为颌骨肿物，随后出现肺转移，最终被诊断为METAM。包括卡铂、依托泊苷和紫杉烷类化疗在内的初始治疗均无效。分子分析显示存在PIK3CA H1047R和BRAF V600E等突变。该患者参加了一项肿瘤非特异性试验，并开始使用PI3K抑制剂库潘尼西进行治疗，治疗产生了部分缓解且疾病得到持久缓解。经过76个周期的治疗后，她仍能很好地耐受治疗，不良事件极少。该病例突出了库潘尼西等靶向治疗方法在治疗METAM方面的潜力，为携带PIK3CA突变的患者提供了一种有前景的治疗选择。
