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| Open AccessCharacterizing DNA methylation signatures of retinoblastoma using aqueous humor liquid biopsy
Retinoblastoma response to treatment is difficult to predict. Here, the authors show that DNA methylation of cfDNA from aqueous humour is altered in retinoblastoma patients and can be used to identify the molecular subtypes and potentially predict treatment response.
- Hong-Tao Li
- , Liya Xu
- & Jesse L. Berry
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Article
| Open AccessA high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression
Retinoblastoma is the most frequent intraocular paediatric malignancy whose molecular basis remains poorly understood. Here, the authors perform multi-omic analysis and identify two subtypes; one in a cone differentiated state and one more aggressive showing cone dedifferentiation and expressing neuronal markers.
- Jing Liu
- , Daniela Ottaviani
- & François Radvanyi
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Article
| Open AccessLoss of polycomb repressive complex 1 activity and chromosomal instability drive uveal melanoma progression
The molecular underpinnings driving uveal melanoma (UM) progression are unknown. Here the authors show that loss of Polycomb Repressive Complex 1 triggers chromosomal instability, which promotes inflammatory signaling and migration in UM.
- Mathieu F. Bakhoum
- , Jasmine H. Francis
- & Ashley M. Laughney
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| Open AccessSingle-cell analysis reveals new evolutionary complexity in uveal melanoma
Uveal melanoma is highly metastatic and unresponsive to checkpoint immunotherapy. Here, the authors present single-cell transcriptomics of 59,915 cells in 8 primary and 3 metastatic samples, highlighting the diversity of the tumour microenvironment.
- Michael A. Durante
- , Daniel A. Rodriguez
- & J. William Harbour
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Article
| Open AccessOutlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors
Hypermutated tumors respond more favorably to checkpoint inhibitor-based immune therapy. Here, the authors describe a new hypermutated phenotype due to germline mutations and subsequent somatic loss of heterozygosity of MBD4, and a dramatic response to the PD-1 inhibitor pembrolizumab in a patient with a MBD4-inactivated hypermutated uveal melanoma.
- Manuel Rodrigues
- , Lenha Mobuchon
- & Marc-Henri Stern
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| Open AccessPunctuated evolution of canonical genomic aberrations in uveal melanoma
Uveal melanoma (UM), the most common primary eye cancer, is strongly linked to mutations in the tumor suppressor BAP1. Here, the authors analyze 151 primary UM samples to find that BAP1 and other canonical genomic aberrations arise in an early punctuated burst followed by neutral tumor evolution.
- Matthew G. Field
- , Michael A. Durante
- & J. William Harbour