Patients with suspected hereditary tumors
FoundationOne® CDx and Heme cannot compare tumor cells
with normal cells. Thus, hereditary tumors (secondary findings) could
not be diagnosed. In this study, germline aberrations were suspected in
four patients (30.8%) (Table 2). We recommended genetic counseling to
each patient. One patient (#11) with a family history (his father had
leukemia) was diagnosed with rhabdomyosarcoma in which a TP53inactivating mutation was detected. Therefore, we suspected Li-Fraumeni
syndrome. Two patients (#2, #3) were unable to undergo genetic
counseling due to their worsening general condition. One patient (#1)
did not wish to proceed with genetic counseling.