Not provided
Not provided
Not provided
| ID | Type | Description | Link |
|---|---|---|---|
| 5R01CA282759-02 | U.S. NIH Grant/Contract | View source | |
| NCI-2024-03774 | Other Identifier | CTRP |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Class |
|---|---|
| National Cancer Institute (NCI) | NIH |
Not provided
Not provided
Not provided
Not provided
Retinoblastoma (RB) is a primary eye cancer that forms in the back of the eye of infants and toddlers. Traditionally, RB is diagnosed without a biopsy; tumor can only be studied once an eye has been surgically removed.
Given this limitation, we use aqueous humor (AH), the clear fluid in the front of the eye to detect specific markers, or information, that comes from the tumor itself.
Retinoblastoma (RB) is a primary intraocular malignancy that forms in the retina of infants and toddlers. Traditionally, RB is diagnosed without tissue as direct tumor biopsy is prohibited due to risk of extraocular spread; tissue can only be obtained once an eye has been surgically removed.
Given this limitation, there are no eye-specific molecular biomarkers in current clinical practice for RB. The lack of in vivo molecular data without removing the eye limits our ability to prognosticate clinical outcomes and develop personalized treatment plans. It also limits our understanding of intratumoral dynamics throughout therapy.
The aqueous humor (AH) is a high-yield source of tumor-derived nucleic acid that can be utilized as a liquid biopsy in eyes with retinoblastoma. Detection of biomarkers from the AH may be used to prognosticate the likelihood of eye salvage and in the future may facilitate targeted, patient-centered therapies based on molecular biomarkers.
OBJECTIVES:
Not provided
Not provided
Not provided
Not provided
| Measure | Description | Time Frame |
|---|---|---|
| Correlation of Ocular Salvage (eye saved) with biomarkers | We aim to evaluate whether any identifiable molecular biomarkers (e.g. chromosomal alterations or tumor fraction) in the aqueous or blood can predict ocular salvage, or the likelihood of saving the eye with therapy | through study completion, a minimum of 12 months after diagnosis and average of 24 months |
| Identification of RB1 (RB Transcriptional Corepressor 1) gene mutations from the AH liquid biopsy | We aim to identify both somatic and germline RB1 gene mutations in the AH | through study completion, a minimum of 12 months after diagnosis and average of 24 months |
| Measure | Description | Time Frame |
|---|---|---|
| Correlation of High-Risk Histopathologic Features with presence of biomarkers | We aim to evaluate whether any identifiable molecular biomarkers in the aqueous or blood can predict the presence of high risk histopathologic features that are known to increase risk of metastatic disease | through study completion, a minimum of 12 months after diagnosis and average of 24 months (only if the eye is enucleated) |
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
All patients, age 0 days to 18 years, with a diagnosis unilateral or bilateral retinoblastoma (RB) treated at CHLA who have biospecimens taken for research during the course of treatment.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Jesse L Berry, MD | Contact | 323-361-4510 | jberry@chla.usc.edu |
| Name | Affiliation | Role |
|---|---|---|
| Jesse L Berry, MD | Children's Hospital Los Angeles | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Phoenix Children's Hospital | Recruiting | Phoenix | Arizona | 85016 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 29049475 | Background | Berry JL, Xu L, Murphree AL, Krishnan S, Stachelek K, Zolfaghari E, McGovern K, Lee TC, Carlsson A, Kuhn P, Kim JW, Cobrinik D, Hicks J. Potential of Aqueous Humor as a Surrogate Tumor Biopsy for Retinoblastoma. JAMA Ophthalmol. 2017 Nov 1;135(11):1221-1230. doi: 10.1001/jamaophthalmol.2017.4097. | |
| 31767439 | Background | Berry JL, Xu L, Polski A, Jubran R, Kuhn P, Kim JW, Hicks J. Aqueous Humor Is Superior to Blood as a Liquid Biopsy for Retinoblastoma. Ophthalmology. 2020 Apr;127(4):552-554. doi: 10.1016/j.ophtha.2019.10.026. Epub 2019 Oct 31. |
Not provided
Not provided
De-identified data will be available to other researchers via NIH GDS/dbGAP controlled databases.
Not provided
October 2023
access via dbgap
Not provided
| ID | Term |
|---|---|
| D012175 | Retinoblastoma |
| ID | Term |
|---|---|
| D018302 | Neoplasms, Neuroepithelial |
| D017599 | Neuroectodermal Tumors |
| D009373 | Neoplasms, Germ Cell and Embryonal |
| D009370 | Neoplasms by Histologic Type |
Not provided
Not provided
Not provided
Not provided
Not provided
Aqueous Humor, Blood, Saliva, Tumor
| Correlation of class of Seeding with presence of biomarkers | We aim to evaluate whether any identifiable molecular biomarkers in the aqueous or blood are associated with the presence of type of seeding | through study completion, a minimum of 12 months after diagnosis and average of 24 months |
| Children's Hospital Los Angeles | Recruiting | Los Angeles | California | 90027 | United States |
|
| Emory University Children's Healthcare of ATL | Recruiting | Atlanta | Georgia | 30322 | United States |
|
| Ann & Robert H. Lurie Children's Hospital of Chicago | Recruiting | Chicago | Illinois | 60611 | United States |
|
| Oregon Health & Science University: Casey Eye Institute | Recruiting | Portland | Oregon | 97239 | United States |
|
| Wills Eye Institute | Recruiting | Philadelphia | Pennsylvania | 19107 | United States |
|
| St. Jude Children's Research Hospital | Recruiting | Memphis | Tennessee | 38105 | United States |
|
| Seattle Children's Hospital; University of Washington | Recruiting | Seattle | Washington | 98101 | United States |
|
| The Hospital for Sick Children (Toronto SickKids) | Recruiting | Toronto | Ontario | M5G 2L3 | Canada |
|
| 30061186 | Result | Berry JL, Xu L, Kooi I, Murphree AL, Prabakar RK, Reid M, Stachelek K, Le BHA, Welter L, Reiser BJ, Chevez-Barrios P, Jubran R, Lee TC, Kim JW, Kuhn P, Cobrinik D, Hicks J. Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma. Mol Cancer Res. 2018 Nov;16(11):1701-1712. doi: 10.1158/1541-7786.MCR-18-0369. Epub 2018 Jul 30. |
| 32434859 | Result | Xu L, Polski A, Prabakar RK, Reid MW, Chevez-Barrios P, Jubran R, Kim JW, Kuhn P, Cobrinik D, Hicks J, Berry JL. Chromosome 6p Amplification in Aqueous Humor Cell-Free DNA Is a Prognostic Biomarker for Retinoblastoma Ocular Survival. Mol Cancer Res. 2020 Aug;18(8):1166-1175. doi: 10.1158/1541-7786.MCR-19-1262. Epub 2020 May 20. |
| 32799607 | Result | Xu L, Shen L, Polski A, Prabakar RK, Shah R, Jubran R, Kim JW, Biegel J, Kuhn P, Cobrinik D, Hicks J, Gai X, Berry JL. Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes. Ophthalmic Genet. 2020 Dec;41(6):526-532. doi: 10.1080/13816810.2020.1799417. Epub 2020 Aug 17. |
| 33062393 | Result | Polski A, Xu L, Prabakar RK, Kim JW, Shah R, Jubran R, Kuhn P, Cobrinik D, Hicks J, Berry JL. Cell-Free DNA Tumor Fraction in the Aqueous Humor Is Associated With Therapeutic Response in Retinoblastoma Patients. Transl Vis Sci Technol. 2020 Sep 30;9(10):30. doi: 10.1167/tvst.9.10.30. eCollection 2020 Sep. |
| 33805776 | Result | Xu L, Kim ME, Polski A, Prabakar RK, Shen L, Peng CC, Reid MW, Chevez-Barrios P, Kim JW, Shah R, Jubran R, Kuhn P, Cobrinik D, Biegel JA, Gai X, Hicks J, Berry JL. Establishing the Clinical Utility of ctDNA Analysis for Diagnosis, Prognosis, and Treatment Monitoring of Retinoblastoma: The Aqueous Humor Liquid Biopsy. Cancers (Basel). 2021 Mar 13;13(6):1282. doi: 10.3390/cancers13061282. |
| D009369 | Neoplasms |
| D009375 | Neoplasms, Glandular and Epithelial |
| D009380 | Neoplasms, Nerve Tissue |
| D019572 | Retinal Neoplasms |
| D005134 | Eye Neoplasms |
| D009371 | Neoplasms by Site |
| D015785 | Eye Diseases, Hereditary |
| D005128 | Eye Diseases |
| D012164 | Retinal Diseases |