Contribution of Angiomyolipoma Examination to Prenatal Diagnostics ofTuberous Sclerosis

Overview

Tuberous sclerosis (TSC) is a frequent hereditary autosomal-dominant disease characterised by hamartomas developingin many organs. The disorder is caused by mutations affecting either of the tumor-supressor genes, TSC1 andTSC2. Tumorogenesis is triggered by the loss of second functional gene copy, mostly accompanied by loss ofheterozygosity (LOH) of flanking polymorphic markers. Search for causing mutations is very laborious, timeconsuming and loweffective. Prenatal diagnosis is often hampered by lack of detection of causing mutation.Detectionof LOH in hamartomatous tissue suggests which gene is involved in particular case of disease and specifies whichof homologous chromosomes carries germinal mutation.Examination of LOH is useful for prenatal diagnostics especially when time is lacking due to patient’s pregnancyor in case of mutation screening failure.

Key words:
tuberous sclerosis, TSC, angiomyolipoma, hamartoma, LOH, prenatal diagnostics.