Molecular biomarkers detected using fluorescence in situ hybridizationin a Filipino with retinoblastoma

Arnold Dominic A Barzaga; Glenmarie Angelica S Perias; Lia Angela E Reyes; Patrick Gabriel G Moreno; Patrick R Relacion; Richelle Ann M Manalo; Yasmyne C Ronquillo; Francisco M Heralde Iii

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Molecular biomarkers detected using fluorescence in situ hybridizationin a Filipino with retinoblastoma

Author: Arnold Dominic A. Barzaga ¹ ; Glenmarie Angelica S. Perias ¹ ; Lia Angela E. Reyes ¹ ; Patrick Gabriel G. Moreno ¹ ; Patrick R. Relacion ^{1
,

2} ; Richelle Ann M. Manalo ³ ; Yasmyne C. Ronquillo ^{4
,

5} ; Francisco M. Heralde III ¹
Author Information

1. Department of Biochemistry and Molecular Biology, College of Medicine, University of the Philippines Manila
2. Department of Medical Technology, Faculty of Pharmacy, University of Santo Tomas, Manila
3. National Institute of Health, University of the Philippines Manila
4. Hoopes Durrie Rivera Research
5. Department of Biology, University of Utah, Salt Lake City, Utah
Publication Type:Journal Article
Keywords: CD133
MeSH: Retinoblastoma; Biomarkers; In Situ Hybridization
From: Acta Medica Philippina 2024;58(10):99-107
CountryPhilippines
Language:English
Abstract: Background and Objective:Retinoblastoma is one of the most common intraocular cancers among children usually caused by the loss of retinoblastoma protein function. Despite being a highly heritable disease, conventional diagnostic and prognostic methods depend on clinical examination, with limited consideration of cancer genetics in the standard of care. CD133, KRT19, and MUC1 are commonly explored genes for their utility in liquid biopsies of cancer including lung adenocarcinoma. To date, there are few extensive molecular studies on retinoblastoma in Filipino patients. To this end, the study aimed to describe the copy number of CD133, KRT19, and MUC1 in retinoblastoma samples from a Filipino patient and quantitate the respective expression level of these genes.
Methods:Hematoxylin & Eosin (H&E) staining was utilized to characterize the retinoblastoma tissue while fluorescence in situ hybridization (FISH) using probes specific to CD133, KRT19, and MUC1 was performed to determine the copy number of genes in retinoblastoma samples from a Filipino patient (n = 1). The gene expression of CD133, MUC1, and KRT19 was quantitated using RT-qPCR.
Results:The H&E staining in the retinoblastoma tissue shows poorly differentiated cells with prominent basophilic nuclei. CD133 was approximately 1.5-fold overexpressed in the retinoblastoma tissue with respect to the normal tissue, while MUC1 and KRT19 are only slightly expressed. Multiple intense signals of each probe were localized in the same nuclear areas throughout the retinoblastoma tissue, with high background noise.
Conclusion:These findings suggest that CD133 is a potential biomarker for the staging and diagnosis of retinoblastoma in Filipino cancer patients. However, further optimization of the hybridization procedures is recommended.
Full text:20240619142912471497666-Article Text-117250-2-10-20240611.pdf