Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy

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 c...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:NPJ precision oncology 2021-07, Vol.5 (1), p.73-73, Article 73
Hauptverfasser: 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.
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung: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.
ISSN:2397-768X
2397-768X
DOI:10.1038/s41698-021-00212-0