Wong Elyssa Y, Xu Liya, Shen Lishuang, Kim Mary E, Polski Ashley, Prabakar Rishvanth K, Shah Rachana, Jubran Rima, Kim Jonathan W, Biegel Jaclyn A, Gai Xiaowu, Kuhn Peter, Hicks James, Berry Jesse L
The Vision Center, Children's Hospital Los Angeles, Los Angeles, CA, USA.
USC Roski Eye Institute, Keck School of Medicine of USC, Los Angeles, CA, USA.
NPJ Precis Oncol. 2021 Jul 27;5(1):73. doi: 10.1038/s41698-021-00212-0.
Germline alterations in the RB1 tumor suppressor gene predispose patients to develop retinoblastoma (RB) in both eyes. While similar treatment is given for each eye, there is often a variable therapeutic response between the eyes. Herein, we use the aqueous humor (AH) liquid biopsy to evaluate the cell-free tumor DNA (ctDNA) from each eye in a patient with bilateral RB. Despite the same predisposing germline RB1 mutation, AH analysis identified a different somatic RB1 mutation as well as separate and distinct chromosomal alterations in each eye. The longitudinal alterations in tumor fraction (TFx) corresponded to therapeutic responses in each eye. This case demonstrates that bilateral RB tumors develop separate genomic alterations, which may play a role in tumorigenesis and prognosis for eye salvage. Identifying these inter-eye differences without the need for enucleated tumor tissue may help direct active management of RB, with particular usefulness in bilateral cases.
视网膜母细胞瘤（RB1）肿瘤抑制基因的种系改变使患者易患双眼视网膜母细胞瘤（RB）。虽然每只眼睛接受的治疗相似，但两眼之间的治疗反应往往存在差异。在此，我们使用房水（AH）液体活检来评估一名双侧RB患者每只眼睛的游离肿瘤DNA（ctDNA）。尽管存在相同的种系RB1易感突变，但AH分析在每只眼睛中发现了不同的体细胞RB1突变以及单独且不同的染色体改变。肿瘤分数（TFx）的纵向改变与每只眼睛的治疗反应相对应。该病例表明，双侧RB肿瘤发生了独立的基因组改变，这可能在肿瘤发生和眼球挽救预后中起作用。无需摘除肿瘤组织就能识别两眼之间的这些差异，这可能有助于指导RB的积极管理，在双侧病例中尤其有用。
