Molecular diagnosis of retinoblastoma

Molecular diagnosis of retinoblastoma Retinoblastoma, as the most frequent intraocular tumor in children, can be either heritable or non-heritable. An estimated ۸,۰۰۰ new cases of retinoblastoma are detected globally each year, with an incidence of ۱ in ۱۷,۰۰۰ live births. Retinoblastoma molecular diagnosis is essential to comprehending the disease's genetics and patient-specific care. When a vulnerable retinal cell, most likely a cone photoreceptor precursor, has mutations in both of the retinoblastoma gene (RB۱) alleles, the condition develops. Different mutations in RB۱ can affect the penetrance of the disease and require further investigation about this gene and other related genes such as MYCN, BCOR, and CREBBP (Marković et al., ۲۰۲۳). Accurate genetic counseling and more thorough treatment strategies for affected individuals and their families can be made possible with the use of genetic testing for people and families suspected of carrying heritable abnormalities (Smith, B.J., and O'Brien, J.M., ۱۹۹۶). Recent developments in the fields of genetic and epigenetic studies have greatly improved our capacity to identify the disease and forecast its course. Comprehensive mutation detection is made possible by modern diagnostic techniques including multiplex ligation-dependent probe amplification (MLPA) and next-generation sequencing (NGS) (Zelenova et al., ۲۰۲۳). According to Marković et al. (۲۰۲۳), tumor-free DNA from the anterior part of the eye is becoming a potentially useful biomarker for prognostics and diagnostics. Even though Rb is still primarily diagnosed clinically, the recently discovered biomarkers may help with early molecular identification, prompt micrometastasis detection, and the development of new Rb treatment options. The development of tailored medicines is still confined, despite advancements (Marković et al., ۲۰۲۳). To develop successful treatment plans, more investigation into the genetic and epigenetic landscapes of RB is necessary (Aathore et al., ۲۰۲۳) (Satrio, ۲۰۲۳). Even while molecular diagnostics has evolved significantly, there are still obstacles to overcome before these discoveries may be applied in clinical settings, especially in low-resource environments where access to sophisticated genetic testing may be restricted.

کلیدواژه ها:

Retinoblastoma ، Molecular diagnosis ، Cancer