[Diagnostic and therapeutic perspectives in RASopathies]

Magy Onkol. 2024 Dec 10;68(4):313. Epub 2024 Nov 19.
[Article in Hungarian]

Abstract

RASopathies are congenital diseases that manifest in childhood with symptoms and potential complications, typically associated with an elevated tumour predisposition risk. The heterogeneous symptoms involve mostly central nervous, cardiovascular, musculoskeletal systems and skin, and modified growth pattern. From molecular perspective, the function of a key protein involved in Ras signalling is impaired, leading to disrupted regulation of cell growth and division. It is crucial to uncover genetic history, analyse tumour and cardiac involvement pattern along four generation pedigree and depict minor anomaly pattern. Upon clinical suspicion a stepwise approach to molecular testing is recommended to confirm or rule out the specific RASopathy. Post-test genetic counselling should address potential complications, developmental and follow-up strategies in line with current guidelines. Cascade pedigree segregation analysis according to the inheritance pattern should be offered to family planning parents and potentially affected family members. In case of certain specific organ involvement or complications, targeted therapeutics are available, highlighting the importance of early diagnosis.

Publication types

  • Review
  • English Abstract

MeSH terms

  • Child
  • Costello Syndrome / diagnosis
  • Costello Syndrome / genetics
  • Costello Syndrome / therapy
  • Female
  • Genetic Counseling*
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Humans
  • Mutation
  • Pedigree
  • Signal Transduction / genetics
  • ras Proteins / genetics
  • von Hippel-Lindau Disease / diagnosis
  • von Hippel-Lindau Disease / genetics
  • von Hippel-Lindau Disease / therapy

Substances

  • ras Proteins