PO.CL01.11 · 临床研究

视网膜母细胞瘤的诊断基因组学：房水在获取肿瘤特异性信息方面优于血液

Diagnostic genomics in retinoblastoma: Aqueous humor outperforms blood for tumor-specific insights

编号 7831 展板 12 时间 4/22 09:00–12:00 区域 Section 45 主讲 Elaine Huang, MS

分会场 Liquid Biopsies: Circulating Nucleic Acids 5

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作者与单位 Authors & Affiliations

Elaine Huang¹, Atrey Khoche¹, Sabrina Abed², Venkata Yellapantula³, Laura Kagami³, Brianne Brown², Liya Xu², Jesse L. Berry²

¹Keck School of Medicine of USC, Los Angeles, CA,²Childrens Hospital Los Angeles, Los Angeles, CA,³Center for Personalized Medicine, Childrens Hospital Los Angeles, Los Angeles, CA

摘要 Abstract

中文摘要

目的：在眼肿瘤学领域，关于血液还是房水（AH）是视网膜母细胞瘤（RB）更优的液体活检来源仍存在争议。在此，我们比较它们的诊断效用。方法：在诊断时从13例（16只眼）RB患者采集配对的AH和血浆。对无细胞DNA进行测序以评估拷贝数改变（CNA）幅度；使用ichorCNA软件估计肿瘤分数（TFx）。配对结果采用Wilcoxon检验比较。结果：体细胞拷贝数改变（SCNAs）在93.8%的AH样本中可检出，而血浆样本为53.8%。血浆TFx显著低于AH TFx（4.33-7.84%；平均7.65% vs. 4.69-99.37%；平均34.19%；p =0.004），中位差异为16.73%。血浆CNAs仅在Group D/E眼的患者中检出，其中三分之二已行眼球摘除。相比之下，AH在所有分组中均能检出CNA。在两种基质均为阳性的患者中，75%的AH识别出血浆中缺失的额外改变。在双侧病例（23%）中，AH揭示了血浆中无法区分的眼特异性改变。平均随访4个月未观察到转移证据。结论：虽然血液CNA检出可能与晚期疾病相关，但AH对眼内诊断显示出更优的灵敏度。临床意义：经CLIA认证的检测（LBSeq4Kids）验证，AH作为活检替代物始终优于血浆。

查看英文原文 English abstract

Purpose: There remains controversy in ocular oncology over whether blood or AH is a superior liquid biopsy for retinoblastoma (RB). Herein, we compare their diagnostic utility. Methods: Matched AH and plasma were collected at diagnosis from 13 patients (16 eyes) with RB. Cell-free DNA was sequenced to assess copy number alteration (CNA) amplitude; ichorCNA software was used to estimate tumor fraction (TFx). Paired results were compared using the Wilcoxon test. Results: SCNAs were detectable in 93.8% of AH samples versus 53.8% of plasma samples. Plasma TFx was significantly lower (4.33-7.84%; average 7.65%) than AH TFx (4.69-99.37%; average 34.19%; p =0.004), with a median difference of 16.73%. Plasma CNAs were detected only in patients with Group D/E eyes, two-thirds of which were enucleated. By contrast, AH enabled CNA detection across all groups. In 75% of patients positive in both substrates, AH identified additional alterations absent in plasma. In bilateral cases (23%), AH revealed eye-specific alterations indistinguishable in plasma. No evidence of metastasis was observed at average follow-up of 4 months. Conclusion: While blood CNA detection may correlate with advanced disease, AH demonstrates superior sensitivity for intraocular diagnosis. Clinical Implication: Validated by a CLIA-certified assay (LBSeq4Kids), AH consistently outperforms plasma as a biopsy surrogate.

利益披露 Disclosure

E. Huang, None.. A. Khoche, None.. S. Abed, None.. B. Brown, None.

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