Actionable NRG1 fusion undetectable by conventional technology

Initial Workup

• 39 year-old female with metastatic lung adenocarcinoma

• IHC:

  • PD-L1 (1% TPS)

  • HER2: 2+

• FISH:

  • Negative for ALK, ROS1

• Extensive molecular testing (ctDNA, DNA- and RNA-based NGS tissue testing and WGS):

  • TP53 and RB1 mutations

  • No actionable drivers

Aventa testing results:

• Noncanonical intergenic-NRG1 fusion that does not create a chimeric transcript

Treatment:

• Zenocutuzumab

Patient outcome:

• Rapid improvement in clinical symptoms and clear radiographic response at 6 weeks

Complete characterization of maxillary sinus tumor enables targeted therapy

Initial Workup:

• RNA sequencing:

  • No reportable somatic alteratives with associated therapies

  • Results inconsistent with clinical suspicion

• FISH:

  • NUTM1 rearrangement in 91% of cells

  • Limited ability to characterize fusion partner

Aventa testing results:

• BRD4:NUTM1 gene fusion identified

Outcome:

• Actionable fusion identified

• Enabled selection of targeted therapy