PLASMA CIRCULATING TUMOR DNA TO ASSIST IN THE DIAGNOSIS OF UNKNOWN PRIMARY MALIGNANCY UNDERLYING CHOROIDAL METASTASES.

Q3 Medicine Retinal Cases and Brief Reports Pub Date : 2025-01-01 DOI:10.1097/ICB.0000000000001518

Jasmine H Francis, Sara Levine, Julia Canestraro, Juliana Eng, David H Abramson

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Abstract

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.

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用血浆循环肿瘤 DNA 协助诊断脉络膜转移瘤的未知原发性恶性肿瘤

目的：处理疑似脉络膜转移瘤需要诊断成像和侵入性（有时是眼内）活检，以确定原发恶性肿瘤。这一多步骤过程需要时间，可能会影响发病率和死亡率：方法：对一例病例进行回顾性分析：结果：一名 56 岁女性出现双侧褐青色脉络膜肿块，怀疑为不明原因的转移。血浆循环肿瘤 DNA 显示表皮生长因子受体、PTEN、SMAD4，与非小细胞肺癌特征一致。随后的放射成像和肩胛骨活检显示患者患有肺腺癌，基因特征与液体活检结果一致。患者开始接受表皮生长因子受体（EGFR）抑制剂 Osimertinib1 的治疗，获得了可测量的全身和眼部反应：血浆循环肿瘤DNA揭示了来源不明的脉络膜转移瘤的原发恶性肿瘤基因图谱；有助于及时诊断和检测驱动基因突变，为靶向治疗提供指导。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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