Genetic Characterisation of Retinoblastoma in Latvia from 2000 to 2022

  • Laura Skrabule (Speaker)
  • Mičule, I. (Co-author)
  • Daiga Mūrmane (Co-author)
  • Grīnfelde, I. (Co-author)
  • Sandra Valeiņa (Co-author)
  • Māris Vīksniņš (Co-author)
  • Gita Tauriņa (Co-author)

Activity: Talk or presentation types › Poster presentation

Description

The purpose of the study is to summarize changes in genetic structure of patients with diagnosis of retinoblastoma in Children’s Clinical University Hospital of Latvia since 2000. This 22 -year period is characteristic with wide range spectrum of genetic test availability as well as the changes of genetic testing methods over time. Such description of genetic RB1 gene characterization of Latvian patients with retinoblastoma has not been performed so far. . A retrospective study of all retinoblastoma patients diagnosed and treated in Children's Clinical University Hospital since 2000. Clinical and molecular diagnostics’ findings from 25 patients were collected from medical cards and hospital’s internal data system.. 25 patients were diagnosed with retinoblastoma between 2000 and 2022. RB1 gene was tested for 68,0% (n=17) of them. Genetic testing methods over 22-year period were starting with Sanger sequencing followed by Next generation sequencing (NGS) gene panels with or without Copy number variants (CNV), to NGS testing for single RB1 gene with CNV. In 64,4% (n=11) of tested patients pathogenic or likely pathogenic variant in RB1 gene (RB1 positive) was found – 3 missense, 3 nonsense genetic variants, 3 intragenic deletions/duplications and 2 large deletions including RB1 gene. One missense variant was recurrent for 2 unrelated patients. For 1 affected patient mosaicism of intragenic deletion was found. All patients with bilateral retinoblastoma (n=7) were RB1 gene positive. All RB1 positive patients were younger than 2 years when they were clinically diagnosed. Three families with 2 affected individuals in each family were identified. . Corresponding to literature patients with bilateral retinoblastoma and familial cases are always RB1 gene positive. Even not found in first line investigation it is worth to chek large deletions and duplications or mosaicism. RB1 gene status affects age of onset and disease recurrence rate in the family.
Period29 Mar 2023
Event titleRSU International Research Conference 2023: Knowledge for Use in Practice
Event typeConference
OrganiserRīga Stradiņš University
LocationRiga, LatviaShow on map
Degree of RecognitionInternational

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