Clinical Actionability of Comprehensive Genomic Profiling for Management of Rare or Refractory Cancers

the Oncologist

Background. The frequency with which targeted tumor sequencing
results will lead to implemented change in care is unclear.
Prospective assessment of the feasibility and limitations
of using genomic sequencing is critically important.

Methods. A prospective clinical study was conducted on 100
patients with diverse-histology, rare, or poor-prognosis cancers
to evaluate the clinical actionability of a Clinical Laboratory
Improvement Amendments (CLIA)-certified, comprehensive
genomic profiling assay (FoundationOne), using formalin-fixed,
paraffin-embedded tumors. The primary objectives were to
assess utility, feasibility, and limitations of genomic sequencing
for genomically guided therapy or other clinical purpose in the
setting of a multidisciplinary molecular tumor board.....

                         RESULTS
Genomic Spectrum Reflects Both Intertumoral and Tumor Type–Specific Commonalities

Four pediatric and 96 adult patients with rare histology or refractory
cancers underwent tumor genomic profiling for a varied spectrum
of epithelial and mesenchymal origin tumors (supplemental online
Figs. 1, 2; supplemental online Table 1). At enrollment, 91% of
patients were stage IV and had received a mean of 2.5 prior
therapies.....