Broudic-Guibert Morgane, Blay Jean-Yves, Vazquez Léa, Evrard Alexandre, Karanian Marie, Taïeb Sophie, Hoog-Labouret Natalie, Oukhatar Céline Mahier Ait, Boustany-Grenier Rania, Arnaud Antoine
Sainte-Catherine Institut, 250 Chemin de Baigne-Pieds, 84000, Avignon, France.
Léon Bérard Center, University Claude Bernard Lyon 1, Lyon, France.
J Med Case Rep. 2019 Jul 25;13(1):245. doi: 10.1186/s13256-019-2140-6.
Ameloblastomas are uncommon locally aggressive tumors of odontogenic epithelium that rarely metastasize. Currently, there is no standard of care for the metastatic forms. Several studies have shown that ameloblastomas frequently have a BRAF mutation.
We report a case of a 33-year-old Caucasian woman with ameloblastoma diagnosed 30 years ago who developed lung metastasis 19 years ago. Systemic oral treatment with vemurafenib, a BRAF inhibitor, was initiated 28 months ago within the AcSé French basket clinical trial of vemurafenib.
The patient has shown a durable clinical, functional, and radiographic partial response with vemurafenib. These observations suggest the possibility of introducing neoadjuvant and/or adjuvant targeted therapy in locally advanced ameloblastoma to improve outcome. BRAF inhibition has proved to be an efficient strategy in patients with a BRAF-mutated ameloblastoma.
成釉细胞瘤是一种罕见的牙源性上皮局部侵袭性肿瘤，很少发生转移。目前，对于转移性成釉细胞瘤尚无标准的治疗方案。多项研究表明，成釉细胞瘤常存在BRAF突变。
我们报告一例33岁的白种女性，30年前被诊断为成釉细胞瘤，19年前发生肺转移。28个月前，在法国成釉细胞瘤vemurafenib篮子临床试验中，开始对其进行vemurafenib（一种BRAF抑制剂）的全身口服治疗。
该患者使用vemurafenib后出现了持久的临床、功能和影像学部分缓解。这些观察结果提示，在局部晚期成釉细胞瘤中引入新辅助和/或辅助靶向治疗以改善预后具有可能性。BRAF抑制已被证明是BRAF突变型成釉细胞瘤患者的一种有效治疗策略。
