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Variant Resolution Through RNA Testing and Affected Tissue Analysis in the Neurofibromatoses: A Case Series.

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RNA testing and tissue analysis resolved variants of uncertain significance in three patients with neurofibromatosis type 1 and schwannomatosis features. These tests clarified diagnoses, impacting clinical care and confirming one patient

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Area of Science:

  • Genetics
  • Molecular Biology
  • Clinical Diagnostics

Background:

  • Neurofibromatosis type 1 (NF1) and schwannomatosis (SWN) have diagnostic criteria that include genetic testing.
  • Variants of uncertain significance (VUSs) can complicate diagnosis when patients do not fully meet clinical criteria.

Purpose of the Study:

  • To report on the resolution of VUSs using RNA testing and tissue analysis in three unrelated individuals with features of NF1 and/or SWN.
  • To highlight the clinical impact of resolving VUSs for accurate diagnosis and patient management.

Main Methods:

  • Genetic testing identified VUSs in three patients presenting with features of NF1 and/or SWN.
  • RNA-based Sanger sequencing and tissue analysis were performed for VUS resolution.
  • Diagnostic criteria were reassessed based on the VUS resolution results.

Main Results:

  • In patient 1, RNA testing and tissue analysis reclassified an NF1 VUS as pathogenic, confirming NF1 diagnosis.
  • In patient 2, RNA testing reclassified an NF2 VUS as likely benign, ruling out germline NF2.
  • In patient 3, RNA testing reclassified a SPRED1 VUS as likely benign, ruling out germline Legius syndrome.

Conclusions:

  • Resolving VUSs through RNA testing and tissue analysis is crucial for accurate diagnosis in patients with features of NF1 and SWN who do not meet full diagnostic criteria.
  • These molecular tests significantly impact clinical care by providing definitive diagnoses or ruling out genetic conditions.
  • The study underscores the clinical utility of advanced molecular testing in complex genetic cases.