Adenoid cystic carcinoma of the lacrimal gland is an aggressive, malignant epithelial neoplasm. We report the case of a 30-year-old male with lacrimal gland adenoid cystic carcinoma treated with neoadjuvant intra-arterial chemotherapy through the internal carotid artery, followed by orbital exenteration and chemoradiation. Treatment response was evaluated using a novel combination of pre- and posttreatment genome sequencing coupled with immunohistochemical evaluation, which showed diffuse tumor apoptosis. A posttreatment decrease in variant allele frequency of the NOTCH1 mutation, and robust tumor cytoreduction on imaging, supports exploration of NOTCH1 analysis as a potential marker of cisplatin sensitivity. The use of genome sequencing and immunohistochemical evaluation could provide a more targeted therapeutic assessment of neoadjuvant intra-arterial chemotherapy in the management of lacrimal gland adenoid cystic carcinoma.

中文翻译：

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基因组测序和细胞凋亡标记物评估泪腺腺样囊性癌对动脉内细胞减灭化疗的治疗反应。


泪腺腺样囊性癌是一种侵袭性恶性上皮肿瘤。我们报告一例患有泪腺腺样囊性癌的 30 岁男性，通过颈内动脉进行新辅助动脉内化疗，然后进行眼眶摘除和放化疗。使用治疗前和治疗后基因组测序与免疫组织化学评估相结合的新组合来评估治疗反应，结果显示弥漫性肿瘤细胞凋亡。治疗后 NOTCH1 突变的变异等位基因频率下降，以及影像学上的肿瘤细胞减灭强劲，支持探索 NOTCH1 分析作为顺铂敏感性的潜在标志物。使用基因组测序和免疫组织化学评估可以为泪腺腺样囊性癌的新辅助动脉内化疗提供更有针对性的治疗评估。