Clinical guidelines for retinoblastoma in children have been updated

According to the definition, retinoblastoma is a malignant tumor of the optical part of the retina (the inner lining of the eye). The pathology has a neuroectodermal origin. It can be caused by both hereditary factors (germinal mutation in one of the alleles of the RB1 gene) and be sporadic (random). The second reason accounts for 60% of cases of the disease. The sporadic form of retinoblastoma is caused by a mutation in both alleles of the RB1 gene only in retinal cells, and is diagnosed at a later age.

The clinical guidelines also present an updated version of the TNM classification for staging retinoblastoma, developed by the American Joint Committee on Cancer in 2018. The classification distinguishes between a primary tumor, an intraocular tumor limited to the retina, with a subretinal fluid level of no more than 5 mm from the base of the formation, a tumor larger than 3 mm in diameter, an advanced intraocular tumor, with atrophy or subatrophy of the eye, and others.

The KR block on the clinical picture of the disease states that the pathology is often asymptomatic and manifests itself when the tumor spreads to the central part of the retina or increases in size, beginning to affect vision. One of the early symptoms of tumor development may be strabismus. The most common sign of the late stage of the pathology is pupillary glow (leukocoria, or the "cat's eye" symptom), the cause of which is the reflection of light from the surface of the tumor focus. In the previous version of the KR, these symptoms were not indicated. The clinical picture describes the main aspects of the manifestation of the disease (early dissemination of tumor cells into the vitreous body and the formation of tumor seedings in it in the form of "stearin drops", etc.).

During diagnostics, doctors are recommended to conduct a molecular genetic study of mutations in the RB1 gene in biopsy material or in blood. This procedure must be performed on patients and all their first-degree relatives (brothers, sisters, parents) in order to identify the hereditary nature of the disease.

The treatment tactics, as specified in the CG, depend on the patient's age, stage of the disease, size and location of the tumor, the nature of its growth, the presence of secondary complications and other factors. For this reason, retinoblastoma therapy should be multidisciplinary. To prescribe chemotherapy, a consultation with a pediatric oncologist is required, for transpupillary thermotherapy - an ophthalmologist, for brachytherapy - a radiotherapist, and so on.

Also, all patients are recommended to have a port system or a central venous catheter inserted through a peripheral vein as an accompanying therapy.

In March 2020, the head of the Russian Ministry of Labor Anton Kotyakov announced the department's plans to establish disability for children with retinoblastoma until they reach the age of 18. At that time, patients were forced to confirm their disability every five years. In April of the same year, the Russian Government approved a thematic resolution . It concerned children "with a malignant neoplasm of the eye after surgery to remove the eyeball." According to the document, such children receive the category of "disabled child" until they reach the age of 18.

The initiative of the Ministry of Labor was formed after Vladimir Putin drew attention to the problem. In January 2020, the President instructed the Government of the Russian Federation to take measures to determine the disability of children with retinoblastoma, as well as to ensure the rehabilitation of such patients, including eye prosthetics. Before that, lawyer Shota Gorgadze pointed out the problems with the disability of such cancer patients. According to him, children were deprived of disability in the event of remission, while they required annual scheduled operations to change the eye prosthesis costing 20-30 thousand rubles, since the child grows up to 18 years.