檢測關鍵

組織採樣是檢測準確度的關鍵,盡可能採取最大的組織樣本1,2

Limited tissue availability1 Sampling site: metastases are preferred2
  • Single sampling generates a relatively small amount of tissue
    • Sample may contain limited tumor tissue because of the heterogeneity of NSCLC tissue
    • Only one opportunity to fix and process the tissue
  • Amount of tissue available for molecular testing may be limited by priorities of testing:
    1. Histologic diagnosis
    2. IHC for tumor classification
    3. Molecular testing
  • Sampling metastases ensures that the more important fraction of total tumor cell burden is collected
  • This approach also avoids potential heterogeneity problems within the primary tumor

建議事項:

  1. A number of proposed algorithms have been published based on the advantages and characteristics of individual testing methods1-3
  2. There is no standard diagnostic algorithm1
  3. Shown to the right is one example of a proposed algorithm designed to prevent misdiagnoses3

FDA核准的檢測方法:

Vysis ALK Break Apart FISH Probe
  • Vysis ALK Break Apart FISH Probe Kit
    • First FDA-approved companion diagnostic test for detection of ALK rearrangements in NSCLC
    • Detects ALK rearrangements regardless of fusion partner
Ventana ALK (D5F3) IHC CDx Assay Staining
  • Ventana ALK (D5F3) CDx Assay
    • Fully automated IHC diagnostic test
    • FDA-approved diagnostic test for ALK rearrangements (June 2015); previously approved in Europe (2012) and China (2013)
FoundationOne CDx™
  • Approved comprehensive genomic profiling test for solid tumor cancers
  • NGS-based in vitro diagnostic that incorporates multiple companion diagnostics including detection of ALK rearrangements in NSCLC
MSK-IMPACT™
  • First FDA-approved laboratory-developed test (2017)
  • NGS-based in vitro diagnostic with a 468-gene oncopanel, including ALK rearrangements
Oncomine Dx6
  • FDA-approved targeted NGS test for NSCLC that detects 368 variants in 23 cancer-associated genes including ALK mutations, but not ALK fusions/translocations

FDA=US Food and Drug Administration; MSK-IMPACT=Memorial Sloan Kettering Integrated Mutation Profiling of Actionable Cancer Targets.