Moriyama Etsuko, Nagasu Sachiko, Tanaka Toshimitsu, Shimotsuura Yasutaka, Ono Takeharu, Umeno Hirohito, Akiba Jun, Kawahara Akihiko, Fujita Fumihiko, Kawaguchi Takumi, Miwa Keisuke
Multidisciplinary Treatment Cancer Center, Kurume University Hospital, Kurume, Japan.
Division of Gastroenterology, Department of Medicine, Kurume University School of Medicine, Kurume, Japan.
Front Oncol. 2023 Aug 4;13:1247435. doi: 10.3389/fonc.2023.1247435. eCollection 2023.
Expression of the gene is rare in solid tumors but is highly prevalent in salivary gland secretory carcinomas. Here, we report a case of a complete response to entrectinib in a patient with fusion gene-positive parotid carcinoma.
The patient was a 44-year-old man who underwent total left parotidectomy and left cervical lymph node dissection for a left parotid tumor at 24 years of age. The histopathological diagnosis was mammary analog secretory carcinoma. Postoperatively, the patient received only radiation therapy. Sixteen years after the surgery, the patient became aware of a mass in the left parotid region. A close examination revealed local recurrence and multiple cervical lymph node metastases. S-1 monotherapy was started as chemotherapy but was discontinued 3 years later because of disease progression. As there was no standard treatment, a comprehensive genomic profiling test using a next-generation sequencer was performed, and the fusion gene was identified. Entrectinib, an inhibitor, was immediately administered at a dose of 600 mg/day. The local recurrence rapidly shrank grossly from the beginning of treatment, and a complete response was observed 6 months later. However, creatinine levels exhibited an increase at week 68 of treatment; consequently, entrectinib dosage was lowered to 400 mg/day, leading to an immediate improvement in creatinine levels. Entrectinib was associated with additional side effects, including dysgeusia, fatigue, dizziness, and weight gain, all of which were also alleviated by the reduction in entrectinib dose. Thirty months after treatment initiation, the patient maintained a complete response and continued to receive entrectinib.
The fusion gene should always be checked in the presence of salivary gland secretory carcinoma.
该基因在实体瘤中的表达罕见，但在涎腺分泌性癌中高度普遍。在此，我们报告1例融合基因阳性腮腺癌患者对恩曲替尼完全缓解的病例。
患者为一名44岁男性，24岁时因左侧腮腺肿瘤接受了左侧腮腺全切除术及左侧颈淋巴结清扫术。组织病理学诊断为乳腺样分泌性癌。术后，患者仅接受了放射治疗。手术后16年，患者发现左侧腮腺区有肿物。详细检查显示局部复发及多发颈淋巴结转移。开始使用S-1单药化疗，但3年后因疾病进展停药。由于没有标准治疗方案，遂使用下一代测序仪进行了全面基因组分析检测，确定了融合基因。立即给予恩曲替尼，剂量为600mg/天。从治疗开始，局部复发灶肉眼可见迅速缩小，6个月后观察到完全缓解。然而，在治疗第68周时肌酐水平升高；因此，恩曲替尼剂量降至400mg/天，肌酐水平立即改善。恩曲替尼还伴有其他副作用，包括味觉障碍、疲劳、头晕和体重增加，所有这些副作用也因恩曲替尼剂量减少而减轻。治疗开始30个月后，患者维持完全缓解状态并继续接受恩曲替尼治疗。
存在涎腺分泌性癌时应始终检查融合基因。
