Gain of Chromosome 6p Correlates with Severe Anaplasia, Cellular Hyperchromasia, and Extraocular Spread of Retinoblastoma

Stålhammar, Gustav; Yeung, Aaron M.; Mendoza, Pia R.; Dubovy, Sander R.; Harbour, J. William; Grossniklaus, Hans E.

doi:10.1016/j.xops.2021.100089

Cited by 6 publications

(4 citation statements)

References 51 publications

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“…For instance, Josefina et al documented a 6p gain in 14 out of 16 extraocular RB samples, compared to none in 17 intraocular RB samples using comparative genomic hybridization 29 . Gustav et al found a 6p gain in 5 out of 6 extraocular RB samples against 13 out of 36 intraocular RB samples through whole genome sequencing 30 . Both findings underscore the potential link between 6p gain and the local extension of RB.…”

Section: Discussionmentioning

confidence: 99%

Single-cell transcriptomics enable the characterization of local extension in retinoblastoma

Liu,

Hu,

Xie

et al. 2024

Commun Biol

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Retinoblastoma (RB) is the most prevalent ocular tumor of childhood, and its extraocular invasion significantly increases the risk of metastasis. Nevertheless, a single-cell characterization of RB local extension has been lacking. Here, we perform single-cell RNA sequencing on four RB samples (two from intraocular and two from extraocular RB patients), and integrate public datasets of five normal retina samples, four intraocular samples, and three extraocular RB samples to characterize RB local extension at the single-cell level. A total of 128,454 qualified cells are obtained in nine major cell types. Copy number variation inference reveals chromosome 6p amplification in cells derived from extraocular RB samples. In cellular heterogeneity analysis, we identified 10, 8, and 7 cell subpopulations in cone precursor like cells, retinoma like cells, and MKI67+ photoreceptorness decreased (MKI67+ PhrD) cells, respectively. A high expression level of SOX4 was detected in cells from extraocular samples, especially in MKI67+ PhrD cells, which was verified in additional clinical RB samples. These results suggest that SOX4 might drive RB local extension. Our study presents a single-cell transcriptomic landscape of intraocular and extraocular RB samples, improving our understanding of RB local extension at the single-cell resolution and providing potential therapeutic targets for RB patients.

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Section: Discussionmentioning

confidence: 99%

Single-cell transcriptomics enable the characterization of local extension in retinoblastoma

Liu,

Hu,

Xie

et al. 2024

Commun Biol

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“… 44 Interestingly, 6p gain also associated with high-risk histopathologic features in enucleated eyes. 45 …”

Section: Can Ah Sampling Aid In Prognosis Of Rb?mentioning

confidence: 99%

The Potential of Aqueous Humor Sampling in Diagnosis, Prognosis, and Treatment of Retinoblastoma

Muniyandi,

Jensen,

Devanathan

et al. 2024

Invest. Ophthalmol. Vis. Sci.

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Retinoblastoma (RB) is a rare malignant tumor that arises in the developing retina in one or both eyes of children. Pathogenic variants of the RB1 tumor suppressor gene drive the majority of germline and sporadic RB tumors. Considering the risk of tumor spread, the biopsy of RB tumor tissue is contraindicated. Advancement of chemotherapy has led to preservation of more eye globes. However, this has reduced access to tumor material from enucleation specimens. Recently, liquid biopsy of aqueous humor (AH) has advanced the RB tumor- or eye-specific genetic analysis. In particular, nucleic acid analysis of AH demonstrates the genomic copy number profiles and RB1 pathogenic variants akin to that of enucleated RB eye tissue. This advance reduces the previous limitation that genetic assessment of the primary tumor could be done only after enucleation of the eye. Additionally, nucleic acid evaluation of AH allows the exploration of the genomic landscape of RB tumors at diagnosis and during and after treatment. This review explores how AH sampling and AH nucleic acid analysis in RB patients assist in diagnosis, prognosis, and comprehending the pathophysiology of RB, which will ultimately benefit individualized treatment decisions to carefully manage this ocular cancer in children.

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“…67,68 Gain of chromosome 6p is associated with the risk of intraocular relapse 69 and extraocular disease. 70 Circulating blood RB1-mutant DNA may be associated with extraocular disease. 71 Aberrant methylation portends aggressive tumor behavior.…”

Section: Retinoblastomamentioning

confidence: 99%

“…Recent advances in aqueous humor liquid biopsy (Figure 1) have facilitated the detection of molecular biomarkers in vivo, and there is a growing understanding of their prognostic implications and inter‐eye heterogeneity 67,68 . Gain of chromosome 6p is associated with the risk of intraocular relapse 69 and extraocular disease 70 . Circulating blood RB1‐ mutant DNA may be associated with extraocular disease 71 .…”

Section: Introductionmentioning

confidence: 99%

Children's Oncology Group's 2023 blueprint for research: Rare tumors

Schultz

Chintagumpala

Piao

et al. 2023

Pediatric Blood & Cancer

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The Children's Oncology Group (COG) Rare Tumor Committee includes the Infrequent Tumor and Retinoblastoma subcommittees, encompassing a wide range of extracranial solid tumors that do not fall within another COG disease committee. Current therapeutic trial development focuses on nasopharyngeal carcinoma, adrenocortical carcinoma, pleuropulmonary blastoma, colorectal carcinoma, melanoma, and thyroid carcinoma. Given the rarity of these tumors, novel strategies and international collaborative efforts are necessary to advance research and improve outcomes.

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Gain of Chromosome 6p Correlates with Severe Anaplasia, Cellular Hyperchromasia, and Extraocular Spread of Retinoblastoma

Cited by 6 publications

References 51 publications

Single-cell transcriptomics enable the characterization of local extension in retinoblastoma

Single-cell transcriptomics enable the characterization of local extension in retinoblastoma

The Potential of Aqueous Humor Sampling in Diagnosis, Prognosis, and Treatment of Retinoblastoma

Children's Oncology Group's 2023 blueprint for research: Rare tumors

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