血浆循环肿瘤DNA辅助诊断脉络膜转移瘤潜在的未知原发性恶性肿瘤。
PLASMA CIRCULATING TUMOR DNA TO ASSIST IN THE DIAGNOSIS OF UNKNOWN PRIMARY MALIGNANCY UNDERLYING CHOROIDAL METASTASES.
作者信息
Francis Jasmine H, Levine Sara, Canestraro Julia, Eng Juliana, Abramson David H
机构信息
Ophthalmic Oncology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York.
Weill-Cornell Medical Center, New York, New York; and.
出版信息
Retin Cases Brief Rep. 2025 Jan 1;19(1):46-49. doi: 10.1097/ICB.0000000000001518.
PURPOSE
Management of suspected choroidal metastases requires diagnostic imaging and an invasive, sometimes intraocular, biopsy to determine the primary malignancy. This multistep process takes time, which may affect morbidity and mortality.
METHODS
This was a retrospective review of one case.
RESULTS
A 56-year-old woman presented with bilateral amelanotic choroidal masses suspicious for metastases of unknown origin. Plasma circulating tumor DNA revealed EGFR , PTEN , and SMAD4 , a profile consistent with non-small-cell lung cancer. Subsequent radiographic imaging and scapular biopsy revealed lung adenocarcinoma and genetic profile concordant with the liquid biopsy. The patient was started on EGFR inhibitor, osimertinib, with measurable systemic and ocular response.
CONCLUSION
Plasma circulating tumor DNA revealed the genetic profile of the primary malignancy underlying choroidal metastases of unknown origin, aiding in the prompt diagnosis and detecting the driver mutation that guided management with targeted therapy.
目的
疑似脉络膜转移瘤的管理需要进行诊断性成像以及侵入性检查（有时是眼内活检）来确定原发性恶性肿瘤。这个多步骤过程需要时间，这可能会影响发病率和死亡率。
方法
这是对一例病例的回顾性研究。
结果
一名56岁女性出现双侧无色素脉络膜肿块，怀疑是不明来源的转移瘤。血浆循环肿瘤DNA检测显示存在表皮生长因子受体（EGFR）、第10号染色体缺失的磷酸酶及张力蛋白同源物（PTEN）和SMAD4，这一特征与非小细胞肺癌相符。随后的影像学检查和肩胛骨活检显示为肺腺癌，其基因特征与液体活检结果一致。该患者开始使用EGFR抑制剂奥希替尼治疗，全身和眼部均有可测量的反应。
结论
血浆循环肿瘤DNA揭示了不明来源脉络膜转移瘤潜在原发性恶性肿瘤的基因特征，有助于快速诊断并检测驱动突变，从而指导靶向治疗。
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