Patients’ characteristics
Of 13 patients, seven were female, and the median age was 28 years old.
Regarding the cancer types, two (15.4%) cases were rhabdomyosarcoma and
two (15.4%) were neuroendocrine tumors, while there was one case each
of neuroblastoma, nephroblastoma, Ewing sarcoma, osteosarcoma, gastric
cancer, rectal cancer, salivary gland cancer, thymic cancer, and adenoid
cystic carcinoma of trachea (Table 1). Eight patients underwent
FoundationOne® CDx and five patients underwent
FoundationOne® Heme. The turnaround time, which is the
period from the submission of the test to the return of the result,
averaged 16.0 days (range, 8–54 days). Frequently altered genes wereCDKN2A (30.8%, 4/13),TP53 (23.1%, 3/13), and MYC (15.4%, 2/13) (Figure 1). On
average, 2.5 mutations were discovered per patient. Most of the
alterations were single nucleotide variants (excluding variants of
uncertain significance (VUS)) (37.5%) followed by amplifications
(27.5%) (Figure 2). TMB, which was defined as the number of somatic,
coding, base substitution, and indel mutations per megabase of genome
examined, averaged 2.8 mur/Mb (range, 0–11 mut/Mb).