基因测序和凋亡标志物评估经动脉细胞减灭化疗治疗泪腺腺样囊性癌的反应。
Genome Sequencing and Apoptotic Markers to Assess Treatment Response of Lacrimal Gland Adenoid Cystic Carcinoma to Intra-Arterial Cytoreductive Chemotherapy.
机构信息
Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, California, U.S.A.
Department of Interventional Neuroradiology, Stanford University, Stanford, California, U.S.A.
出版信息
Ophthalmic Plast Reconstr Surg. 2022;38(2):e44-e47. doi: 10.1097/IOP.0000000000002079.
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.
泪腺腺样囊性癌是一种侵袭性的、恶性的上皮性肿瘤。我们报告了一例 30 岁男性的泪腺腺样囊性癌病例，该患者接受了经颈内动脉的新辅助动脉内化疗，随后进行了眼眶内容物剜除术和放化疗。使用新型的治疗前和治疗后基因组测序结合免疫组织化学评估来评估治疗反应，结果显示弥漫性肿瘤细胞凋亡。NOTCH1 突变的变异等位基因频率在治疗后下降，影像学上肿瘤大量减少，这支持探索 NOTCH1 分析作为顺铂敏感性的潜在标志物。基因组测序和免疫组织化学评估的使用可以为泪腺腺样囊性癌的新辅助动脉内化疗的管理提供更有针对性的治疗评估。
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